I have spent the past 25 years in biomedical research, and this potential success is what we all hope and strive for. What phenomenal news! Gene therapy has long been thought to hold the potential for remarkable cures (and terrible abuse), but early trials with other viruses led to some severe reactions and the trials were halted. I would have liked to see the article discuss some of the incredible work that led to the use of better methods to deliver the DNA safely. This ground-breaking work would have been impossible without those other fundamental advances-as is the case in all research.
39
Useful information to include about sickle cell would be that it is a mutation to survive malaria infection, the malaria can't hitch a ride on the sickle cells from the liver to the brain as well when it gets to that stage.
24
ThanhWHS
When I came across this article I immediately wanted to read about it. It was such as amazing article to read about a disease people are able to cure. From my understanding Sickle Cell disease is a much bigger problem in Africa than it is in the United States. When reading this article I can't hope but wonder what other disease could be sure if there were many to fund the researches and the treatment. Some countries don't bother doing the treatments because they felt that it was unnecessary to do so and they would rather focus their money on something else. When reading this story I realized how many technology really is and that I hope people come to the realization that all disease are important.
17
Such an encouraging story, courage, hope, hard work. The best of America and humanity. Meanwhile... can we use the 5.5 billion President Bozo wants to waste on his pet project accelerating research on SSD. Bet you could put a lot of grad students in labs with that kind of $$$.
59
She is absolutely correct. We need moderate Democrats to attract the independents and the many old school socially liberal, fiscally conservative Republicans who are still out there. The country is tired of chaos and political knife fights, it’s exhausting. I think a good sensible moderate candidate from either party might do well in 2020. But they will need to be charismatic and telegenic as well.
11
@Alexandra Hamilton I think America is craving more political knife fights. Misreading the mood in the country could set us up to lose to republicans again.
3
Yes great news, but how will it play among Trump supporters?
3
This is awesome! In my home state of North Carolina, sicle cell disease is common and devastating. Treating the disease with supportive therapy in hosptial settings is already expensive. Why not funnel money that would be spent on fiture hospital stays on gene therapy instead?
21
I’m not sure how much these therapies, once approved, will cost, but no doubt it’s well worth it for the life changing benefits they will bring.
I’d like to raise an obvious issue and a further question. The issue is being sure we can provide nationwide treatment for a population that often includes the underinsured or uninsured. It’s likely the overall economic benefits will exceed the costs, but regardless we shouldn’t let cost be an impediment, especially to treat children.
My question, and it’s meant to be provocative, is whether to consider germ line treatment using CRISPR technology to eliminate this genetic abnormality. Alternatives are in vitro embryo selection and implantation, or variants of this strategy, to decrease this gene frequency in the population. Assuming it can be done safely and reliably, it will be cheaper in the long run to eliminate the issue of sickle cell disease.
6
@Michael Tyndall
Prenatal diagnosis has been possible for decades. Not sure how commonly it is used.
A very sticky wicket indeed.
8
The reason sicklers in African nations are not treated with narcotics is not because they are not necessary, but because, like so much we take for granted in well resourced medical settings, they are not readily available. Anyone who has ever treated someone with a sickle cell crisis who imagines having only acetaminophen and probably no IV fluids to do so knows that is actually the stuff of nightmares, worse nightmares if it is a child. Not all sicklers in the US have substance use disorder or will inevitably develop it. That is a bias, unconscious or otherwise, a lot of medical providers in the US have. Someone with sickle cell disease presenting to an Emergency Dept. in the US with a sickle cell crisis has to deal with both their pain and that bias.
22
@Michael Tyndall
You bring up a very good argument for CRISPR germ line research but as of now Congress has specifically banned funding for it starting in 2015 and has renewed the ban every year: “none of the funds made available by this Act [to the FDA] may be used to review or approve an application for an exemption for investigational use of a drug or biological product… in which a human embryo is intentionally created or modified to include a heritable genetic modification.” A heritable genetic modification is just what is needed for sickle cell, cystic fibrosis, Huntington and other genetic diseases. Other countries are destined to take the lead.
11
My understanding from fellow physicians who have worked in Africa is that sickle-cell crises are not treated with narcotics outside of the USA. This is certainly food for thought, as we certainly do turn our patients into narcotic addicts here in America. We thus saddle them with yet another problem, as if the first weren't bad enough.
Cure(s) for sickle-cell disease will be entirely welcome. They are long overdue, to say the least.
3
@Jim Rosenthal The reason sicklers are not treated with narcotics in African nations is not because they are not necessary but, as with so many things we take for granted in well resourced medical settings like the US, they are not readily available. If you have ever treated someone for a sickle cell crisis you will understand that having only acetaminophen available to do so and probably no IV fluids is actually the stuff of nightmares. Not all sicklers have substance use disorders or will inevitably develop them. It is a bias - unconscious or otherwise a lot of medical providers have.
19
@Jim Rosenthal I went to medical school in Nigeria, and patients are not treated with narcotics but mostly they were wholly undertreated and in constant pain. Not to say that blanket narcotics are the answer either...
13
Erratum
I mean "...more elusive to gene or immune therapies..."
This is terrific news for a horrible disease, but Ms Kolata should know better than using the quote that this would be “the first genetic cure of a common genetic disease.” It's hyperbole for several reasons. First is that hemophilia has been a target for gene therapy for as long or longer that SCD. Several patients in early trials now express enough of the missing clotting factor two years after therapy to prevent any spontaneous bleeding. Second, we don't know if gene therapy is a permanent cure any inherited disease because not all the cells that convert to producing the correct protein are involved. Will the therapy last? We just don't know.
8
@Jim
The gene therapy for SCD is meant to be a cure, you don't need a second treatment. The hemophilia patients require periodic retreatments when their numbers of whatever clotting factor (there are myriad types of hemophilia, pretty much one for every protein in the complicated cascade of clotting) suggest their at risk.
My first thought was actually insulin made via recombinant DNA, I quickly realized that's not a permanent cure but an improvement on how to produce the product needed for daily injections.
4
One problem that sickle cell patients face is that many in healthcare view them as addicts because of their need for medication to mitigate their pain. I worked with these patients for years as a nurse and have witnessed others "slow walking" pain medication while saying that the patient must be an addict. Uninformed moral judgements only add to the obstacles they face in an effort to simply stay alive and have some quality of life.
42
Thank goodness. Sickle disease is single mutation disease thereby amenable to genetic manipulations. In contrast, malignant cells involve multiple gene mutations and translocations. Less elusive to immune or genetic therapies. Sickling of red blood cells is Darwinian defense against malaria in the African continent and to some extent in the Indian continent and Southeast Asia. Malaria parasite propagates in normal red blood cells of humans to complete its life cycle. Malaria disease manifests by destruction or lysis of these normal red blood cells which releases these gazillions young parasites to be sucked by mosquitoes to complete its cycle. The sickling of red blood cells prevents the malaria propagation.This medical breakthrough is small step to humanity's progress.
8
Great news. The suffering associated with SCD is unimaginable. The best defence against sickle cell disease remains awareness. This is a very common ailment in places like Nigeria and the numbers of affected persons has greatly decreased because more people now know that if your genotype is AS, you do not marry another person with the AS genotype. Almost all the churches in Nigeria require a genotype test before conducting a wedding and many churches flat out refuse to marry those whose genotypes are incompatible. I find that many people of African origin in the US and the Caribbean are not aware of the cause of the disease.
18
How do we make donations to advance this new treatment?
22
That is fantastic! Best news story in a long time. I'm so happy for the people who are cured, or appear to be cured.
15
People should give generously to complete this promising research for a merciful cure.
19
Bone marrow transplant cures or treats sickle cell disease but is too expensive? Compared to a lifetime of poor health and disability? People get bone marrow transplants for blood cancers all the time. If a transplant really treated or cured sickle cell disease you would think it would be common.
16
I’m sure cost plays a role in limiting peoples’ access to this treatment, but it’s not the only factor. Bone marrow transplants are pretty risky procedures. They require prolonged hospitalization, cause excruciating side effects, and can have serious (possibly life threatening) complications. You also have to find an matching donor, and you have to be healthy enough to undergo the treatment in the first place. For someone who experiences severe complications of sickle cell disease, the risk may be worth it. It wouldn’t be the first treatment I tried though
4
@MrsDoc Lots of people waiting for bone-marrow transplants, some with diseases much worse than sickle-cell. Like, lymphoma.
1
Thank you Gina Kolata for this important article.
9
Science, again, for the win.
42
" 'I was like, yes, yes, thank you Lord,' Mrs. Roberts said."
I understand, entirely. My son developed Type 1 diabetes when he was 8. Now he's 42, doing ok, with daily insulin injections, etc. Type 1 is the kind where you can die- any day.
I'll be giving thanks too, if/when there is a genetic fix for Type 1 diabetes, and my son is free of it.
One thing, though. Keep in mind the tools the Lord used to cure your son. Seriously.
It wasn't prayer. It was Science.
Please tell that to everyone. Science is from God. Which means- those who hate or fear Science- are from the other side.
41
Not all religious people believe that God and science are at odds.
27
Science is WHY I believe in GOD.
12
For interested patients and caregivers, the trial these brave patients participated in can be referenced here including contact information for further inquiry. The study is still recruiting patient volunteers.
https://clinicaltrials.gov/ct2/show/NCT02140554?term=Lentiglobin&rank=3
29
Such amazing good news! I remember decades ago when "sickle-cell anemia" was a scourge, mainly in the African-American community, and I know it has frustrated doctors, patients, and families for year. I hope one of these new treatments quickly becomes standard of care and that this is no longer a death sentence for children and young adults. It's so inspiring to read of these young people who have been given back their futures!
17
As a parent of two sons with sickle cell disease, it's finally great to read about experimental gene therapy and how it has helped several patients. Not all sickle cell patients will qualify for gene therapy. Sickle cell disease has long been ignored and still does not receive the attention it deserves. Not to mention the money that is needed for further research to improve patient care. Just because a patient is not in crisis does not mean he or she is not in pain. I have watched my sons in the ER in excruciating pain for hours before the pain medicine kicks in to give them relief. There still is much more research that needs to be done. In my state of New York, many patients/families are still fighting legislation to pass two bills in the NYS Assembly/Senate to help sickle cell patients. Maybe if the stigmas and racial barriers that are intertwined with sickle cell disease patients removed then hopefully they can live a better life.
49
@Kate and others who are saying the problem with sickle cell is simply social disparity, I think you have misunderstood how VERY recent advances are being applied almost immediately to sickle cell.
Read carefully: of the three suggested remedies, one is CRISPR, a gene editing technique, and sickle is one of the first human applications. It was invented in the last 10 years or so. There are massive debates about the ethics of human use to alter the germline; the application to sickle is somatic and less contentious.
Another is viruses to deliver the hemoglobin gene; as Ms Kolata says, only recently have vectors been developed to carry an entire hemoglobin gene.
And the third, the ability to prevent the silencing of the fetal hemoglobin gene is still not understood. We tried using the cancer drug, 5-FU for this in the 1980's, and it was largely unsuccessful.
This is an extraordinarily complex problem. The hemoglobin gene has to be tightly regulated, to the correct cells and the correct amount. 14 gm/dl is a normal hemoglobin concentration; 18 causes problems and 9 is barely sufficient. And it all has to be in red blood cells. Expression anywhere else is harmful.
Compare to factor 8 or 9 for hemophilia: "100" is the right amount, "2" makes a huge difference and "300" is not generally a problem. And it doesn't matter what cells make it.
So while vilifying science and pharma is an easy target, this is a remarkable achievement that was not possible even 5 years ago.
43
This is probably a dumb question, but are red blood transfusions possible for these sufferers?
Also, there is synthetic blood plasma, is there anything that could substitute for the red blood cells? Could genetically compatible mothers lacking the disease have their red blood cells cloned, (genetically cloned) and then used for blood transfusions to their ill children?
1
@RR red blood cells have no DNA. Transfusions wouldn’t really help long term. What you describe are donor bone marrow transplants which are done but are extremely risky. High doses of chemotherapy are used to destroy all of the bone marrow before replacing it with donor marrow cells. Then you have to worry about graft vs host where the new cells attack your body as well as rejection of the grafted cells. And finding compatible bone marrow is very difficult.
17
@RR red blood cell transfusions are currently used, and they can reduced symptoms greatly. But the risks of constant transfusions are not small, and they include allergic reactions, difficulty breathing, too much iron (which can ultimately lead to liver cancer), among other issues. Blood transfusions can be great and life-saving but they certainly have side effects. This is generally used acutely in people that are having life threatening sickle cell emergencies like strokes, and chronically in people who have a history of those emergencies, indicating severity. They also typically don't eliminate pain or crises, but they do make them less frequent.
8
Thank you for the article. I was born with sickle cell disease SS, and I am also an activist who works with the NYC medical communities and various youth groups to try and raise awareness and understanding of the disease. And that’s a key yet little talked about part of the battle. Growing up in New York, but also traveling the country and interacting with a variety of people from creative, well informed communities, knowledge of sickle cell always seems to be entirely lacking. There’s just nothing in terms of education or public awareness or a national dialogue.
The last time we talked about sickle cell in any significant way was during the civil rights movement when the Black Panther Party created free health care clinics to treat the disease and President Nixon including it in public health messages that would lead to a 1972 law. There has been no such public message since.
We are bombarded with adverts by Truth and Rise Above. We, rightly, have year round campaigns for breast cancer awareness. We have reduced the stigma and suffering of HIV and AIDS partly through aggressive advertising campaigns. I can’t ride a train or bus or even cross the street in my city without seeing a poster or billboard for one of the above mentioned public health campaigns. For as many Americans suffer from sickle cell, for as many more Americans who might be born with it, and for all the stigma and ignorance around the disease we need strong awareness efforts and a real national dialogue.
44
No mention that sickle cell disease is autosomal recessive. Patients need two copies of the sickle cell gene to have the disease. One copy manifests as sickle cell trait, which is far more innocuous and less likely to trigger heart attacks, strokes, anemia, and other problems related to the propensity for their red blood cells to sluggishly circulate or form clots.
Thus a big preventive step would be simple genetic testing which is done for many other autosomal recessive diseases like Tay-Sachs in the Jewish population. You can't marry the person you love because there's a 1 in 4 chance the child might suffer a terrible disease? Life ain't fair . . .
Also unmentioned is the fascinating aspect that one copy of the sickle cell gene is protective against malaria (somewhat), a fascinating study of evolution being simultaneously beneficial and deleterious. In other words, for populations living in areas where malaria is prevalent, having the trait confers a survival advantage. For those living in areas where malaria isn't a pressing concern, it's always harmful. Furthermore, the true "cure" would be when the gene is altered in the sperm and egg cells, eliminating the transmission of the sickle cell gene to future generations. Otherwise the gene will continue to be transmitted at precisely the same frequency as is currently the case. (Simple math that every med school student is familiar with.)
20
@drdeanster
That is all true, especially genetic testing to identify carriers. Altering the genetics of gametes is a great idea, but the technology does not exist at present. Even altering an early embryo is not possible at this time.
Right now, this is huge breakthrough and life altering/life saving for people with sickle. Let's be happy while the scientist keep working on this technology, we get there someday.
13
@drdeanster I would make one change in the information you provide from years of personal experience. It is not that people who carry "two copies of the 'sickle-cell gene' can't marry. Two people with the possibility of passing sickle-cell along to children should not have children together. It might be easy to require blood tests for people who want to be married, but 40% of children in the US are born out of wedlock. A different set of controls to prevent passing sickle-cell to children must be put in place for children.
This is why education and community information is important to both fundraising for a cure and fundraising for awareness of the importance of genetic testing before having children. This is a public health emergency in many communities; funding has not been available for many reasons, but racism is certainly one reason.
2
@drdeanster
Same with cystic fibrosis. One copy of the mutation is good for the carrier; both copies mutant spells disaster.
The title made me think that the article was about people who had died of sickle cell disease despite the availability of an effective treatment. The truth was infinitely better... but please work on the writing!
8
The lack of progress on sickle cell disease as opposed to Cystic fibrosis has always astounded me and the fact that it is a minority group with no voice and advocates or people with deep pockets generous enough to fund research that has led to this issue . Till now . I hope that the therapy can benefit those who desperately need it !
If this had been a disease that affected Caucasians the way CF does then we would have had way more funding and drive to a cure much ahead in the game .
20
@Matt
Matt you do know that the Africans who suffered this condition were chosen as slaves by the Slave merchants because they were immune to malaria.
The early Americas had malaria, as did Ancient Rome, and it killed everyone in last phase of the Rome Empire.
The original Irish Slaves, not a healthy bunch to begin with, were felled by malaria in the south of what is American.
People are working to eradicate malaria, its carriers and the bacteria in the carriers.
"Dutch scientist Antoine van Leeuwenhoek designed high-powered single lens microscopes in the 1670s. With these he was the first to describe sperm (or spermatozoa) from dogs and humans. He also studied yeast, red blood cells, bacteria from the mouth and protozoa."
Since these defective red cells were seen under a microscope, the association between the suffers and their ability to fend off malaria, was made obvious.
Sickle Cell Anemia is an adaptation to a pervasive disease. It malaria which is attacked.
5
@Matt
This thinking is seriously disturbed and offensive. Sickle cell is a blood disease, and we have to correct it in only one cell type. We have been working on hematopoietic stem cells for over 40 years. It's the only stem cell we know how to manipulate clinically. It follows that sickle cell would be one of the first diseases to be treated with genetic therapy.
Cystic fibrosis is a disease of the whole body, and currently harvesting stem cells from any tissue other than blood is very difficult. There are many scientists working on this difficult problem and there are several approaches that are promising. A quick google search will give you more information.
https://www.sciencedaily.com/releases/2016/09/160920093723.htm
https://labiotech.eu/medical/cystic-fibrosis-gene-therapy/
These are two very different diseases, and hard working scientists and clinicians have and are dedicating their lives to finding treatments and hopefully cures. The race of those affected is at the very bottom of their priorities, and in fact does not exist at all.
11
@Matt
Diseases are not equal. This is science, and each disease is it's own puzzle, some are harder than others. If it was just about spending, we wouldn't have cancer, the common cold, nor the flu.
4
Thanks, NYT for this important story. I live in Atlanta which has a majority black population, and the local paper offers up daily doses of black crime, MLK, disparaging reports of black elected officials, and sports.
7
@Corey Brown. Form your own news.sources, then, to put these sorts of stories, and others, on a more equal footing. Boycott the ones you dislike, and make sure they know WHY and how many people.are upset.
2
Linus Pauling correctly predicted the molecular basis of sickle cell anemia in 1949 before modern genetics. https://paulingblog.wordpress.com/2014/03/05/dr-paulings-prediction-of-a-mutation-in-beta-globin-which-causes-sickle-cell-anemia-and-how-this-prediction-impacted-my-research/
4
I had my first sickle cell related stroke at age 10- I spent a year in rehabilitation and my body was disfigured and will never be the same again. Like the article said, all because of one stupid gene. At 29 I find myself one of the lucky ones to have lived this long but at this point in human history something has to give and there must be a CURE. I always thought that because this is considered a "black disease" that the world would continue to just let us all die- why not when America has left us in historical poverty and the cops kill us in the streets? Clearly our lives just did not matter in this cold world. But stories like Brandon's give me hope- maybe now our suffering will start to matter. It's too late for me but those future sickle cell babies may now have a shot. Good luck!
38
@Keely
Your story is so compelling and I honor the great courage and resilience you have obviously shown over the years.
Please don’t give up hope for yourself!
With all the negative political stuff we read about and experience daily, the medical breakthroughs of our era are a great source of inspiration.
Keep the faith!
16
Big Pharma companies, whose greed and corruption I wrote about in my book “In Jake’s Company,” sell scores of rare-disease treatments for $200,000-$350,000 a year, with insurance companies’ and government funds helping to foot those astronomical costs, for therapies that cost a minuscule fraction of that to make. The companies also get monopolies to do that, because FDA approvals for rare-disease treatments come with market-exclusivity guarantees: no one can compete with them, to bring the costs down! It’s a license to print money. Check out what Genzyme, Amgen, and Biogen charge for their rare-disease drugs - and there are plenty of other biotechs, as well, that exploit rare-disease treatments as cash cows that come with monopolies.
Ms. Kolata correctly, but ever so subtly, makes the point that the slow progress in delivering treatments for sickle cell disease may be attributable to the fact that it occurs in “less affluent” populations, i.e., African-Americans. There is no doubt about it - de facto racism is at play - and the medical advances that could be made via more investment, and actual interest from shamefully rich and profitable Big Pharma and insurance companies, won’t be made until people of prominence have shamed drug companies and insurance companies, publicly, into (1) caring about a disease that overwhelmingly afflicts African-Americans, and (2) coming to the rescue of the patients and families that suffer from this horribly cruel disease. Who will do that?
19
@James Murrow
Yes, thank you. Science at its best when we apply it to disease. Capitalism at its worst when it becomes a rip-off in price gouging and the racial prejudice regarding this disease.
6
@James Murrow
Actually, in African too. It is a genetic modification to the disease of Malaria.
1
@James Murrow. What nonsense. First, the difficulty in progress has been simply that the tools for safe genetic manipulation are still only now being developed. It is not the result of some paranoid conspiracy as you suggest and certainly cannot document. Second, the leading company, Bluebird, is a biotech company, not “big Pharma,” and through private funding and its own dedication has led these advances (and no affiliation). Third, as always, the issue of “cost” ignores the significant uncertainly and risk researchers and companies take in trying to develop new treatments, and it is always an arm-chair quarterback who feels free to opine on what the value ought to be. This is the sort of fact-free canard that one has now come to sadly expect in social media.
13
I had far rather spend $5.7 billion dollars on such as this helping people live normal lives.
77
Interesting commentaries about a common disease, possibly on it's way to extinction (sickle cell disease), but why would it be to save thousands from agony... just for Americans? I trust I didn't read your commentary well.
1
That's a terribly worded headline. It sounds reproachful instead of hopeful. The word "might", there, should be "may"; as it is now, it sounds like they failed to receive the experimental cure.
3
What a wonderful story. So many ignorant people just want to bash the companies and researchers developing life saving cures.
4
This is what modern medicine should be about. I'm hopeful this will be a long lasting fix for a terrible disease.
7
Sickle cell disease confers resistance to the malarial brain lesions and renders the host tolerant to this deadly parasite. For this reason, instead of evolutionary selection breeding sickle cell out of the Sub-Saharan human population, it actually conferred a survival advantage.
This survival advantage translated into making African slave labor economically preferable to Arabic and European slave traders seeking to supply the labor market in regions of the world where malaria is prevalent.
The American South was such a region. European mortality rates from mosquito borne diseases in the Americas was stunning. The consequence of this paradigm translated into an extremely large slave population proportionate to the white, non-slave population and helped determine the inhuman nature of plantation slave culture.
Through a series of genetic experiments, a researcher, Ana Ferreira was able to show that the main player in this protective effect of sickle cell disease v. malaria is heme oxygenase-1 (HO-1), an enzyme whose expression is strongly induced by sickle hemoglobin. This enzyme, that produces the gas carbon monoxide, had been previously shown by the laboratory of Miguel Soares to confer protection against cerebral malaria. This research has displaced earlier speculation that malaria somehow caused resistance to malarial infections. It does not. It simply provides a highly imperfect method of surviving their most harmful effects.
11
As an ER doctor who treats sickle cell patients, I can’t wait to tell my patients this fantastic news.
15
All the more reason to tax the ultra wealthy. This is how our tax dollars should be used.
18
Thank you, Gina, once again, for this important and easily comprehensible article.
4
Wonderful news! Maybe Black Lives Matter after all. This is truly remarkable work. Thank you.
6
“I was like, yes, yes, thank you Lord,” Mrs. Roberts said.
Her thanks are misplaced. Instead, she should be thanking the universities and medical centers where the research is being done, the foundations funding the research, as well as the biomedical researchers and doctors working to further knowledge in this area.
No gods necessary.
11
@Greg and the NIH - the National Institutes of Health - the primary funder of all this University research. The NIH, under the Department of Health and Human Services, is one of the greatest long-term success stories of the US government. Without NIH, none of this exists.
17
I have some basic, layman understanding of the SCD from being an investor in SCD treatments for many years; this article is highly misleading. gene therapy treatments are many years away, expensive (1MM each treatment), will require multiple treatments across years, and have tremendous risks in current phase, including fatalities; I will bet you even a few years from now most hospitals will not be equipped to perform the complicated procedure on a mass scale. I believe a simple, safe, oral tablet that a company that Global Blood Therapeutics is about to get FDA approval upon this year, and which mitigates organ damage, morbidity, and increases lifespan, while costing multiples less (a factor when a hi majority of patients are on medicare/medicaid) will become the workhorse treatment soon for sickle cell; this oral drug, voxelotor, will help hundreds of thousands of patients well before any gene therapy even gets approved. This article should have mentioned that too; the authors should be more patient-centric instead of being enamored purely with science that is years away from mass application in terms of practically helping hundreds of thousands.
7
@Al
Al - genetic engineering over the past 40 years has been working with White Blood Cell, duplication or replication, "cloning" for the purpose of sending out specific White Blood Cells to deliver = pain medicine at the sight of a cancer ( mutant cell which is no cell at all), and poisons, to kill the cancer cell.
We can definitely clone healthy red blood cells. The problem is, can we use them in a person suffering Sickle Cell Anemia?
1
@Al
the pace of progress in gene editing has been very rapid. Stem cell transplant options and gene therapy are also curative, but cost will be a major issue.
This is an exciting era for sickle cell care, as there are several classes of drugs showing promise. However, all of these, including the GBT drug are not cures and will require continuous treatment to provide what help they provide..
@RR @Tom. Thx for replies. I look forward to learning more about SCD. Newer discoveries indicate the disease processes to be more complicated than earlier thought. I believe the road to a cure goes thru GBT's Voxelotor but does not necessarily end there - but I believe what it will do, in agreement with many renowned researchers is that it will mitigate organ damage, stroke risk, and a host of serious issues, and tremendously increase lifespan. Another drug, crizunalab (pardon spelling) from Novartis, can help mitigate sickle cell pain crisis (drug also in late trials like GBT's voxelotor). Both these drugs are not the most "sexy" in terms of CRISPR gene editing/ gene therapy and yet they will carry the workload for most patients over the next decade. And that is my point - until the huge leaps envisioned by gene therapies are perfected in terms of both safety & efficacy, lets not forget that thousands of patients can have life-changing treatments by impending approvals and commercialization of these 2 drugs, etc. A 20 yo patient today might be 35 or older by the time gene therapy is perfected but more practical drugs such as Voxelotor will make the real difference in their lives. This article should have reflected this point as well. When discussing the science of tomorrow, lets also remember the patients of today.
Wonderful. Now if many can read this and send NIH five dollars or more earmarked for sickle cell the ball could be moved. Let’s just do it. !!!
7
Let us hope it is one-hundred percent successful and widely used.
6
Medicine is in a transformative period, where instead of managing symptoms, diseases are being cured. I am on a drug that has kept my cancer at bay, and treatments that are down the line may cure me. (Diffuse B Cell Non Hodgkins Lumphoma, ABC subtype -15 years since diagnosis, 8 years since stem cell transplant, on 4th non-fatal recurrence). In time, the accumulation of cures will reduce the need for hospital beds. I hope to see that trend in my lifetime.
11
@Bruce Maier
No doubt. I see it with metastatic breast cancer. The new treatments try to stay one step ahead of the cancer. The oncologists go from one treatment to the next—many more tricks in their bags than in the old days.
I also see metastatic melanoma pts alive years after diagnosis. In the old days (around 1990) they’d be dead in a few months.
Treatment for lung and colon CA hasn’t advanced as well.
As you well know, treatment of hematopoietic neoplasms has been revolutionized.
Of course the big Kahunas are not in oncology but rather infectious disease. When I trained in the mid-80s HIV was a death sentence. Our pts at UCLA just flat out died. Now it’s more like diabetes.
Treatment and prevention of heart disease, the biggest Kahuna of all, has seen great progress. Just don’t see many 50 year-old men dying at the table any more.
Amazing times for medicine.
2
4 strokes by age 18?! What a horrible disease! I had no idea it was so debilitating.
Bravo to the determined scientists who fought so hard for funding the trial small as it was. I suspect their ambitious research opens the door for changes to the course of medicine that will benefit many if not most of our grand children.
It was very heartwarming to read about Mr.Williams’ and Ms.Duncan’s new found optimism and ambitions. They are both cute as a button and deserve so much more out of their young lives than this awful disease has given them.
7
While it’s always wonderful to see a potential cure, the biology here is very complicated and the cost of a single treatment (after the 41 patient trial and approval of the drug) in the US is expected to be $500,000 or even a million dollars. There is also the possibility mentioned on a number of SCD websites that a single treatment will be insufficient and some patients will require annual infusions. While a number of you will point out this is cheaper than the current alternative with crisis visits to the ER costing millions, I just want to put out there that with CRISPR and immunotherapy, we could be looking at one of the most expensive drug classes ever and something that has the potential to bankrupt our healthcare system.
1
But this isn't like some ultimately futile antibody therapy that costs $500K to prevent a terminally ill person from dying for another four or five months, it's real treatment for otherwise healthy, productive individuals. Besides which, in twenty years it will cost a fraction of what it does now. I remember when Zantac cost $15 per pill, but it was prescribed because it was a revolutionary drug that made a real positive difference to people's lives. Now you can but it at the convenience store for almost nothing. The same will happen with these new revolutionary technologies as well.
13
@PeteH, having dealt with your regulatory body for years, let me just say it’s high unlikely the folks in charge of the Australian healthcare system will ever back a medicine that costs even half of the US cost. It would bankrupt your system in Australia too. Bank on it.
1
This would be so wonderful. All of the hemoglobinopathies, of which Sickle Cell anemia is just one, are devastating to those who inherit them. Mediterranean thalassemia is another that has terminated many lives prematurely. Progress on one of these would likely make progress on the others easier. Its a first step in helping millions of people around the world.
13
Seeing this handsome young man absorbing life around him makes me feel wonderful! I hope that the research continues and that a full rewarding life lives in his future. Bravo scientists! Bravo!
9
What a wonderful article. It is uplifting to read that these men and women now have some hope.
8
If we could just get some sort of gene therapy that would stop people from thanking deities that make these diseases almost impossible to treat, and thank evidence-based medicine, first-rate medical schools, and hard-working bright researchers instead.
33
The iconic Miles Davis had sickle cell anemia. I am not playing the trumpet on stage, he would often turn his back to the audience. He was often criticize for arrogance and disdain for doing this. And I often wondered to let other great creator page he may have attained worry free of this debilitating disease. Now there is some hope, especially for the people of the community who sparked his musical abilities.
5
This is extraordinary! I’m Curious If This Approach Would Work For Patients With Hereditary Spherocytosis HS, which is Another Genetic Blood Disorder. The abnormal erythrocytes are sphere-shaped (spherocytosis) rather than the normal biconcave disk shaped.
6
Thank you to the brave patients and researchers. As a breast cancer survivor, I have greatly benefited from those who went before me with experimental treatments and protocols that have now become standards of care. When reading the article, I was stunned to discover that I never really understood what the actual symptoms of sickle-cell disease entailed until now. This struck me as yet more evidence of how a disease that affects certain populations much more than others has not only received important funding, but little publicity about its very real and damaging effects for the individuals who suffer from its debilitating symptoms. Power and voice are prerequisites to any type of funding and research. It has been far too long that the devastating impacts of sickle-cell disease have been diminished by the disease's lack of representation within the dominant white culture.
10
@Terry S
Correction - this sentence should read:
"This struck me as yet more evidence of how a disease that affects certain populations much more than others has not only NOT received important funding, but little publicity about its very real and damaging effects for the individuals who suffer from its debilitating symptoms."
10
Wonderful news! We are Hispanic, so it is not a population that most doctors associate with Sickle-Cell decease, or the Sickle-Cell trait.
My husband was diagnosed with the trait in the 1970's. My daughter inherited the trait, and so did one of her twin daughters. My son did not.
Even though they only have the trait, it does affect them somewhat. Traveling to high altitude places like Denver or Mexico City will trigger an episode. High stress, even near sea level, may cause symptoms too. They will become jaundiced, and suffer from tremendous spleen pain.
It is great that children are screened at birth now. My blond blue-eyed granddaughter would probably never had known she had the trait unless she exhibited symptoms, which she hasn't yet.
My husband kept getting treated for Hepatitis in the beginning, since he did not fit the segment of the population who might have the trait. It took a brilliant Hematologist at Stanford Medical Center to figure out that my husband's jaundice and paint was not Hepatitis at all, but unrecognized Sickle-Cell trait.
20
I am a nurse practitioner at Mount Sinai in NYC in the Adult Program for Sickle Cell. Disease. Every day at work -- I encounter suffering. Usually, it is the acute and excruciating pain from sickle cell, but often it is the emotional pain that this disease also causes. Sickle cell disrupts the best made plans -- like starting college and having to drop out because a professor won't let a student make-up an exam, or a newly hired employee is fired because sickle cell pain strikes and hospitalization ensues right after starting. Employers have little understanding and little tolerance for missed days by new--or frequently long-term employees. Not to mention vacations and kid's birthday parties are also often missed. And, the financial toll is devastating -- patients who are able to work often make too much money for Medicaid, but commercial health plans are too expensive to buy, or if obtained, required copays for office visits and medications are too high to afford. Individuals living with SCD are resilient and should receive needed accommodations to lead full and productive lives -- just like anyone else.
As a clinician -- I am thankful to the investigators who are developing these therapies but I am most especially thankful to the individuals with sickle cell disease who are participating in these trials. This group of men and women are truly medical pioneers--and hopefully, sooner than late, these treatments will finally end the terrible suffering endured by so many.
63
@Jena
When I retired from nursing 7 years ago, weekly red blood cell transfusions were ordered to wash out sickle cell clumps that caused excruciating pain. The only progress towards cure was bone marrow transplantation.
I remember encouraging patients to use the incentive spirometer and replacing the pulse oximetry they kept peeling off.
4
It is heartwarming to see how technological advances in basic biology can lead to treatments that cure diseases.
The key is that NIH and NSF fund basic biology research, not knowing which project will breakthrough.
CRISPR, one of the techniques discussed in this article, comes from bacterial cells. Scientists studying the basics of these cells were not doing research that was directly related to human health. But they stumbled on a system that they realized had very broad applications.
However, you can imagine how the original basic biology research could have been misinterpreted as unnecessary by those who object to any government funding. "Scientists waste money figuring out how bacteria chop up DNA".
It is critical that NIH and NSF continue to fund basic biology research. We don't know a priori what research will lead to breakthroughs. But the breakthroughs can be life-saving.
38
@HN
Very well said. "Breakthroughs" are typically the result of many years of basic research (generally NIH-funded) that allow us to learn about the world, our environment and our bodies. It is critical that we maintain and increase funding for basic science.
10
We hope and pray that this will be a cure but we fear that it will be too expensive for those who need to to access this treatment. The US is more interested in tax breaks for billionaires and ensuring that they can buy 2 or more private planes than providing health care for its people. We need to change so that this hopefor cure as well as insulin and other drugs and treatments will be available to all!
25
This should be available to all the same as dialysis.
3
Science is truly wonderful. Great job by brave startups, NIH and new Novartis that are focused on curing diseases rather than finding pills that patients have to take for their whole lives.
11
A promising article and for years of research it is exciting that movement is being made with a cure for this disease, For many of us who have felt that diseases associated with minorities never get funding we saw for once that minority diseases are on the radar.
Thank you for an insightful article which brighten our day.
17
This white girl of northern European people learned about SCD about 60 years ago when one of my mother's secretaries had it. The woman died in her thirties. Mother, normally a pretty cope with anything person who had seen a lot in her social work career, was devastated. Another way in which black lives should matter more than they do.
30
This disease can strike anyone with Mediterranean roots - which is why all children are screened at birth.
5
This is truly amazing. I work in pharma and know how hard it is to find breakthrough treatments, this is incredible.
13
This is wonderful news. One has to wonder though how many therapies are held back for the money or research dollars every year. Huge amount of public money goes into research for new therapies given to drug companies who contract with universities or research facilities, who later patent them and then charge outrageous amounts for the treatment even though public tax dollars are used to test these therapies.
The same could be said of autism which is growing rapidly among our young populations and other genetic diseases that have been passed on to future generations that may have been caused by other pharmaceutical drugs given to parents or grandparents, altering the genes of their children or grandparents...
Isn't the health and well being of our young populations worth the price of "no price attached" for all therapies that will pay enormous benefits to our society in the long run.
We should join with the international research communities to find cures for all genetic conditions and fund completely the research and distribution of those therapies through an international body like the U.N. without private companies who only see $$$$ over pain and suffering.
8
This is super fantastic news. I hope with all my heart that this therapy will work as a cure, not simply temporary relief from symptoms.
14
I'm just a scientist. But as a professional I have clients: data. In my field I have witnessed many medical product failures because the potential cure was not given sufficient time in clinical trials to reveal its long term effects. I have to fight for the data to be fully tested to be true to the scientific requirements of research; I win no popularity contests with this stance. The reward is evidence-based confidence in the products that show positive results. Yet, as a patient I would want my doc to fight for my cure. I am her client. If the tests showed promise and my life were on the line I would want that treatment. I would not want my doc to act the scientist. This is the ethical dilemma all us scientists live with. It is hypocrisy to be sure. We need to include these realizations in our discussions to avoid overreacting. It makes ethics courses necessary.
18
@Howard Winet
Very true data is extremely important and we don’t want to get overexcited but it was a bit of good news. Maybe like Alzheimer’s we can’t pass the important clinical trials but for a day we were in the news.
For people who suffer it’s uplifting to be in the conversation . However you are absolutely correct about data and that is reality.
5
@Howard Winet It seems to me that there needs to be a balance here.
The idea that nothing can be put to use by more people before it is "fully tested" (whatever that means, since nothing is truly ever fully tested) does not seem right. People who live in pain and misery ought to be able to decide for themselves to "roll the dice" if the treatment is potentially promising. Assuming they are fully informed of the risks and uncertainties, which probably requires some actual education, not just signing a form that asserts they are informed of and accept the risks and uncertainties.
That said, the clinical trials ought to continue. While it is true that some particular patients may not have "sufficient time" we as a society should have sufficient time to get the data we need.
This is not really an ethical dilemma. It is just a false dichotomy, though one that might be reinforced not just by opinion, but also law and regulations. The idea is that data gathering somehow conflicts with use. That things must be strictly ordered. If anything, to the extent that a treatment is starting to be used, that would seem to call for more research and data collection, not less. These things ought to go together.
The reason your view is unpopular is not because people are opposed to more data or decreasing uncertainty, but because they believe it will delay treatment options. The solution may not lie in ethics courses, but in reforming the balance reflected in law and regulation.
4
In an increasingly difficult and negative news cycle, it is with great joy to read about a groundbreaking therapy to cure such a devastating disease. The photo of Ms. Roberts and Mr. Williams is beautiful.
42
It's a beautiful thing to see this therapy working. Thanks for the interesting article.
18
Miles Davis, the great Jazz trumpet player and band leader, had sickle-cell disease. He traveled around the world and did some boxing also. He died at age 61. I went to his concerts at Birdland, The Village Vanguard, Blue Coronet in Brooklyn.
10
@Tonjo I did not know this. What a brave man. My opinion of him is completely changed now. Could this explain the genius's reputation for being not a nice person, because he was in constant pain? Thank you for letting us know.
9
@Tonjo
I wonder if the pain of the disease contributed to his addictions.
2
The picture of Ms. Roberts and her son, Brandon Williams, conveys a sense of joy for life that is nearly palpable.
This is wonderful news. Thank you.
25
This is amazing. Brave new world - for the good for a change! Could have mentioned the fact that the sickle cell mutation persists in Africa because those who have one copy of the sickle gene can survive malaria better (natural selection); two copies of the gene, of course, result in early death after severe health problems.
16
This is such heartwarming news. I hope the current gene therapy continues to work well and bring much needed relief to the millions of people suffering with this devastating disease.
15
This was the most hopeful thing I've read in a long, long while.
Thank you for making me smile, through tears.
41
Thank you for reporting on a disease that has caused pain and heartache in the African-American community for generations. I hope these results prove to be true. More importantly, once confirmed, I hope the cost to cure will be realistic and within reach for the families that need it.
44
This was the first article I read today after scanning headlines. Thank goodness for this therapy and I hope that they can make it accessible to all patients with sickle cell disease. Eliminating those previous healthcare costs coupled with now productive, healthy individuals working and living normal lives will make the price worth it!
30
Thank you NIH for funding research that made these therapies possible. This is a great example of our taxpayer dollars working to save lives.
163
@Erin Absolutely and now let’s make sure every American who needs it will be able to have it! No more gouging.
4
I have cared for sickle cell patients for over 20 years and this is the most exciting therapy we have ever had. Stem cell transplant is available to a small percentage of patients. Though new methods such as haplo-identical (from a parent) transplants may provide an option to many more, there are significant immune risks with this therapy.
Gene-editing using offers the chance to produce non-sickling hemoglobin in a patients own cells without the long-term immune suppression.
People with sickle cell suffer terrible pain and progressive organ damage, but are often judged by healthcare system as drug-seekers. Many suffer significant depression - another major complication.
I discuss gene therapy with most of my patients so they see that long-overdue cures may soon be available, hoping it can help them continue to fight this devastating illness.
107
@Tom Thank you for writing from the front lines. When physicians find out about new therapies for their patients, and hope that they will be able to help them, it must be so rewarding.
2
I can’t imagine the hopelessness the moms and dads of these kids have felt. So glad there is a promise for a better tomorrow
33
Sounds good. Keep going and keep reporting. Thank you.
14
This truly is great news, however, it is bittersweet. Sickle cell disease was the first disease to be molecularly identified in the 40's/50s and yet there was no approved drug until the 90s. It took another 20 years just to get a second drug approved. It has been well documented how research and philanthropy dollars have been severely denied for sickle cell disease, as noted by Dr. Williams in this story. This includes funding by the NIH. While this research is important, it does not help prevent the stigma of sickle cell disease amongst the public, among legislators who fund programs for the care of sickle cell disease, both federal and state, and the huge bias and discrimination against sickle cell disease in ERs and hospitals across the country. Patients need relief now!!! For over 7 years there has been a sickle cell bill to help do this in the NYS legislature, but has never been funded or passed, and NYS has about 10% of the nation's sickle cell disease patients. It is the most costly disease/patient to NYS medicaid, so it seems to be a no brainer to fund care to improve lives now and save money to NYS Medicaid. Let's see what the Gov. and the legislators do this year. Let's see if philanthropy will increase for sickle cell disease.
151
@Thomas Moulton, MD I hadn't heard of this, might you be able to give the name(s) of those introducing the bill?
I agree that medical care should not depend on either one's income or the lottery of one's genes. Until the NY Health Act is passed — a bill that will provide comprehensive care to all New Yorkers while removing financial obstacles to getting that care, while costing NYS (and taxpayers) less than 90% of us pay now — half of us are only one medical catastrophe away from financial jeopardy or ruin.
At least 8 million New Yorkers assume that because they have insurance through work, and employment, they are safe. They are not. Almost all medical bankruptcies had insurance and work prior to their medical issues. Severe illness or accident changes the calculus, as NYTimes has regularly reported.
We need universal healthcare — it costs less than we're paying now, wastes far less money, controls future costs better — and benefits both patients or providers. (Over half of MDs support it, and 70% of all Americans do.)
Until we get universal (single-payer, "Improved Medicare for All," NY Health), excluding SC from Medicare coverage is just one more inequity in a healthcare system filled with disparities and inequities.
In our current system 30% of healthcare dollars do not benefit healthcare. Let's end the waste and improve our own lives — and the lives of all our neighbors and their families.
16
And now instead of using your tax dollars perhaps Mr Zuckerberg or another one of your tax dodging billionaires can fund more research and treatment for all.
It’s a shame all that outsized money could be “earned”/transferred to a few, when it could help the many.
42
@Eric Blair Look up CZI. Zuckerberg is already funding one of the biggest private philanthropic scientific initiatives in history, to bring cutting edge engineering approaches to health and science. Wish other philanthropists would follow, like that guy who just bought the most expensive apartment in NYC.
5
@Eric Blair
Here's a story about CZI. It sounds like, thanks to his science background, Zuckerberg was able to choose the right advisors to identify some promising areas of research. https://www.cnbc.com/2018/09/14/chan-zuckerberg-initiative-what-is-it-doing-so-far.html
Bill Gates also donated a lot of money to a well-chosen important area of public health, AIDS and emerging diseases.
With Gates, the motivation was clearer. People hated him, because of his monopoly position in software, particularly after his congressional testimony came off so poorly.
Gates hired a good PR firm, they got good scientific advisors to recommend some of the best areas to fund research and public health initiatives, for the best return on the dollar.
It worked. The Gates Foundation really saved huge numbers of lives. It improved his image. He deserved it. Now everybody likes Bill Gates. Even me.
Unfortunately, for his next initiative, his advisors sold him on charter schools and high-stakes testing, as part of what Diane Ravitch called "the billionaire boys club," which arguably did more harm than good.
I think the lesson is that oligarchs can sometimes do good, but they can also do harm, and they need the oversight of democratic institutions.
Give Gates and Zuckerberg credit where credit is due. But I still think they should pay a 70% marginal tax, so we can pay for the National Science Foundation and Department of Education ourselves.
8
@Eric Blair. Gates Foundation recently donated 1.5 million to Boston's Children for gene therapy research. Let's hope others follow suit.
4
my son has the treat not the disease. Millions of Americans are affected by this disease and so little is known, none speaks about it. This article is important to show what research does, the challenges faced by patients and most of all that it is absolutely insane not to have universal health coverage.. look at the cost of treatement! insane
21
As someone who has lived in a malaria-endemic region of Africa, I'm appalled that this article refers to the sickle-cell gene as an'error' and 'errant'. The sickle-cell gene is a mutation to adapt to a highly malarial environment, and the sickled cells are vital in preventing a malarial infection from taking hold. While the excess of sickle cells in the bloodstream is tragic, it is not an error of genetics, but the body's natural evolution to protect itself. This is why the gene is prevalent in populations which experienced endemic malaria for thousands of years.
48
@Josh
Although you are technically correct, it’s only those who inherit a single copy of the mutation are protected from malaria without developing sickle cell disease. Those folks live healthy lives and go on to pass this mutation on to offspring. Those that inherit two (one from each parent) may also be protected from malaria, but they will also develop sickle cell disease, which is an agonizing and painful death sentence in early childhood outside the first world. So, it may be ‘natural selection’ (as you infer), but that does not mean it is free of negative consequences.
72
@Josh
Heterozygosity is adaptive in malarial areas, homozygosity is always and everywhere deleterious in SCD. It’s a balanced polymorphism. The thalassemias are similar in that respect.
15
@vbering You do know that only ten people understand what you just wrote and I am not one of them. But I am thankful that you can write this way and others understand showing a level of understanding allowing for change.
5
The mile-wide smiles of Carmen Duncan and Brandon Williams say it all. Thank you for a story filled with hope for those who suffer from a cruel disease. And thank you to those who have used their gift of brain-power to figure out how to relieve suffering.
42
When politics has me in despair, science give me hope. Kudos to the scientists and engineers getting on with it and making this world a better place!
37
@B
I don’t advise reading Blood Meridian if you want to keep your faith in science.
It is maddening that America has people suffering without healthcare. The new cures developing to cure SCD are exciting. Once perfected, they should be widely available.
Hard to believe SCD patients struggle to get on Social Security disability. SSA should list SCD as a compassionate allowance. If SCD was listed, folks with the disease would per se be awarded disability. Unfortunately, SSI only pays $771 but it comes with Medicaid. Of course, Medicaid limits the number of doctor visits a patient can have, but it is better than nothing.
What a cruel country we live in.
87
@Kitty P
People who have never worked under Social Security are not eligible to receive Social Security Disability payments. They are eligible to receive Supplemental Security Income payments, which are part of a federal welfare program, which automatically gives them Medicaid. Where is your beef?
In states that have not expanded Medicaid, children are still universally covered if their parents cannot afford $10,000 plus per year in medical costs. Obamacare cancelled their federally subsidized insurance, so they had a gap, but the Republicans restored their funding in 2015 when they gained a majority in the Senate.
In states that have not expanded Medicaid, adults who are sick are covered unless they are wealthy. Once again, where is your beef?
The technology for a cure is only now available, as is the case with Hepatitis C. It is good news that we live in a country that is wealthy enough to fund medical research. Unlike cruel socialist medicine countries.
1
@ebmem
The beef is that people w/SCD are almost always denied both Soc Sc disability payments, and welfare-based ones (many are young adults w/no work history, due to their frequently medical problems).
I live in one of those 'cruel socialist medicine countries'. Believe me, Canada, Germany, Sweden, Britain... we do MORE medical research than the US, proportional to population.
20
@ebmem, By the cruel socialist medicine countries I guess you mean Italy, Denmark, Sweden, Finland, Germany and Norway where a great deal of the world's medical research takes place.
27
Fantastic and amazing new technology that can literally cure genetic diseases like nothing we've seen before. But there's something so much cheaper and so much easier that could dramatically reduce the number of cases. It's called screening! By testing large numbers of asymptomatic individuals, it's possible to determine who is a carrier and then counsel them as to the risk of having children who might go on to develop the disease. Screening has been amazingly successful for Tay Sachs disease, with a dramatic reduction in cases over the decades. Unfortunately, for genetic screening to be effective, it requires a motivated and educated patient population, something not easy to guarantee.
15
all children born in this country are screened for hemoglobin mutations, part of newborn screening, so the parents all know if their baby has trait, the problem is that the message often is your child has trait, no problem, so the child grows up never being told and winds up having a baby with someone else with trait who also didn't know and then they have a baby with disease. the answer is to have better education about this devastating disease
10
@Jonathan V
With a cure available, why would screening be necessary? As mentioned by an earlier poster, a carrier has protection against malaria, so it would not be in the interests of civilization to eradicate the gene by suppressing reproduction.
@grodh2
Screening for Tay Sachs is applied before people have kids, not once the child is born. In at-risk communities, every adult knows their own T-S status. They can then make informed choices about who to have kids with, and how (ie; IVF w/zygote selection, donor sperm, adoption etc if both potential parents carry the gene).
Massive investment in screening and education and medically-assisted reproduction are necessary for this to work. And it doesn't help those currently affected.
5
Thank you Gina for such wonderful stories you research. Always look forward to reading you.
I worked in the Kidney unit of a major hospital and we had several sickle-cell patients that the sickling blood cells destroyed their kidneys. So happy they are finally finding gene therapy that will ease their suffering. It should be free for all, after all private and government paid for the research, and most of these patients would not be able to afford it.
Here's hoping for success and Medicaid for all.
Retired RN
65
@Joy B
People with employer provided health insurance are not interested in Medicaid as a substitute. Those who advocate Medicaid for all do not recognize that they are part of "all" and to fund the scheme requires they relinquish their current insurance.
Great news that a cure appears almost ready for widespread use. An interesting fact is that although the government paid grants to fund the research, the patents involved are owned by the academic researchers, and they will profit when the process becomes commercial.
2
@ebmem
When you or your family member has a disease and could die we should all read your statement. Life is all about dollar and cents and like educators some are good and some are bad. Some doctors care and others do not. life and death is not a tv show. These artificial barriers are just what they are artificial. Life should mean more than a dollar sign but in America it doesn’t.
2
@Joy B Agree about Gina — and about federal "Improved Medicare for All" and NY Health Act.
Our healthcare system is so broken — allowing
SC patients to languish ... and families to face financial ruin because of medical crises (1/3 of all GoFundMe campaigns); 2/3 of all bankruptcies (almost all of which had jobs/insurance prior to illness/accident); 1/3 of us foregoing care for cost; 2nd-world health metrics, costing twice as much.
My employer changed my policy options at will — so I regularly "lost" and "gained" policies, requiring me to find new MDs in "new" networks (that cut my employer's cost but eliminated continuity of care for me).
It's a myth that most people with employee-provided insurance are happy — yes, they need insurance, but almost everyone has stories about how it failed a family member or required Herculean efforts to keep it from failing them.
NY Health — "Improved Medicare for All New Yorkers" — will provide ALL essential care: ALL coverage currently provided by any NYS public or private insurer will be included. AND it will save us money.
How? By cutting the 30% of costs that don't benefit HC — not to mention saving forests of trees. Anyone who says, "but taxes!" is ignoring how much all of us are paying now: for premiums, deductibles, not-covered drugs/therapies. A progressive HC tax will mean you don't pay more until you earn more — 95% of NYers will pay less; NYS will get an economic stimulus and better public health. NYHCampaign.org
5
Having worked in drug development for both Sickle Cell Disease (SCD) and Cystic Fibrosis (CF), I was maddened by the racial disparity between how the two diseases are viewed. Both are inherited diseases affecting about the same number of patients, both cause irreparable childhood organ damage, both require multiple and prolonged hospitalizations, and both shorten lifespan. But the SCD Association of America struggles for funding while the CF Foundation has sufficient money to bankroll clinical trials. SCD patients are frequently accused of being drug seekers when they go to the ER in excruciating painful crisis. No such judgements are made when a CF patient seeks medical care. There currently is no approved drug to address the cause of SCD, but a CF drug was approved 7 years ago with fast track status. Not to diminish the life-changing help for CF patients, but it's great news to hear that SCD patients might finally be able to break the cycle of pain and marginalization and begin to lead powerful lives.
259
@Kate: you said it. the social aspect of SCD and how neglected it has been is now well recognized by professional societies and policy makers. We have lost decades but better late than never i guess.
20
@Kate
one correction. The diseases do not affect the same number of patients. Sickle cell disease affects about 100,000 people in the US while CF affects about 30,000 patients in the US, 1/3 of sickle cell disease. So the funding disparities/patient are even greater. CF has a registry so will have more accurate numbers, SSD does not.
42
@Thomas Moulton, MD
So sounds like a very good step would be for some organization to establish a registry.
6
Reading about the experiences of the families in this article and getting a sense of the devastation caused by the disease is humbling and heart-searing. Such joy to know hope is on the horizon and already transforming sufferers' lives. As the new therapies become sound--let's make them available on a mass scale for those in need.
52
When I was a hematology RN we were taught that red blood cells sickled in aAfrica as an evolutionary response to prevent malarial mosquitoes from biting.
Another grave threat is that cycled red blood cells clumping in the lungs cause deoxygenation and pneumonia. Immediate ER treatment is oxygen, morphine, non steroidal anti inflammatory meds, and a small plastic device called incentive spirometer. Inhaling through the spirometer a few times every hour inflates the lungs and prevents pneumonia.
10
@Michael shenk
a theory is that heterozygous carriers of the sickle cell gene mutations are more resistant to malarial infection; while heterozygous carriers of the cystic fibrosis gene mutations are thought to have had historic increased survival in response to cholera infection. These theories indicate a mechanism for the high prevalence of these mutations in particular human populations.
11
Back in the late 70s, JJ, born with sickle cell disease used to come into our ER almost every week. His chart was thicker than two Manhattan phone books. The ER staff knew him so well with the oxygen in nasal prongs and shots of morphine to ease the pain. We were always debating whether it was his sickle cell pain or his addiction to narcotics that drove his weekly visits. So many conversations with him made you realize he was a life with so much potential trapped in a body that was destroying him.
To read these success stories (so far) of possibly curing sickle cell made me think of JJ. Born too early to benefit, I could not be more elated to know that future sickle cell patients could be cured of this horrible disease. This is a miracle.
129
@macman2
I think it's sad that the assumption was he was possibly drug seeking instead of needing treatment for an identified, horrible disease. I have a genetic disorder and there were so many times that my parents were told I was faking symptoms. This resulted in permenate damage, delayed surgeries (on top of the ones that just weren't performed well), and mental trauma. As an adult I am assumed to be a drug seeker, lazy, or mentally ill despite the many surgeries I was forced to endure as a guinea pig for curious surgeons and the clear progression charted in my MRIs and CT scans of damage from those surgeries. I have lost so much because of medical incompetence but it is made so much worse by the fact that I have to fight for even basic medical care and can't assume that I will receive appropriate treatment. If I had listened to the "professionals" in the past I could very well be dead by now (told to me by a doctor who did listen). So much of medicine seems to be about propping up medical egos instead of helping patients and it makes me sick.
8
Sounds like all we need is money too turn this around.
1
@macman2: It would make sense to think that someone in so much pain could become addicted to the narcotics that eased his suffering. As we have learned, even people in real pain can easily become addicted to opioids. There is no reason why the same would not be the case for people being treated with other narcotic pain medication.
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This is promising news and hopefully the options become mainstream and affordable .
After reading the recent article about how hard it has become to get insulin these days,I am not exactly jumping up and down with optimism,but hopeful.
Btw,treatment options for sickle cell disease would be ‘reparations’ in the truest sense.
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What a wonderfully happy story to read on Sunday morning after a bleak month of government shutdown. People don't realize how many of our tax dollars go to vital and needed research like this. It changes peoples lives.
Thank you researchers and good luck to all of the trial participants and victims of this dreadful disease. A cure may be near for you. Hang in there!
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Congratulations to the survivors and to the hard working and devoted global biotech research community!
Decades of hard work continuing to reach fruition. The faces tell the story of what it is worth.
Keep up that fine research, team - and to those who do this: keep that funding flowing.... there's more hard an expensive work ahead.
Politicians please don't stand in the way.
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What a beautiful and hope filled story. I hope the therapy becomes available soon, to all sufferers of this serious disease.
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What an incredible story. Thank you,Gina, for sharing it. I hope there will be a reasonably priced cure at the end of all of the trials.
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At last, a positive use for gene therapy that doesn't involve making perfect babies. Glad progress is finally being made in the treatment of this long overlooked disease. The smiles of these patients are worth all the money in the world.
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What a great story of dedication to purpose, hope and inspiration. These doctors and research scientists are the true heroes in our society. Kudos and awards to them.
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