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CUMC Professor Discovers Genetic Basis for Hair Loss

Despite the fact that many people feel that hair loss is simply a cosmetic disease, if you look carefully at the literature on what we call the burden of skin diseases, meaning how much patients are affected by their given disease, you’ll find that the category of hair diseases is the most burdensome from the patient’s perspective. The reason for that I think is because most people have a very strong relationship with their hair and it in some ways defines their self-image so when that’s threatened or when people feel not confident about the way they look particularly in children it has a devastating impact, far more than one would predict if one was not affected.

You probably know that I have alopecia areata myself, so I learned firsthand what that actually means and that was really the motivation for us starting these studies in the first place. We believe, and I think many do now, that until we know the genes that control these different types of hair loss, that we will not be able to develop what we call rational targets for therapy, meaning that unless we have a road map of what’s actually going wrong in the disease how can we strategically block or influence those different processes in the hair cycle or in hair growth? For years we believed that alopecia areata would look the most like psoriasis and vitiligo at the gene level and so because those are other complex diseases in dermatology that that was the assumption so we’ve always tested psoriasis drugs in alopecia areata because we thought that was the most sensible thing to do.

As it turns out only one or two of our genes actually overlap with those diseases, so perhaps it’s not surprising that we didn’t see the kind of benefit that we might have hoped from those studies. However, the fact that almost all of our genes align with Type 1 diabetes, rheumatoid arthritis, and celiac disease puts us in wonderful company because a lot of drug development has gone on in those diseases that we can really reap the benefits of. A few weeks before our paper came out I had the opportunity to speak at the annual patient conference for alopecia areata, and I told them a little bit about the findings and they know that I’m a patient myself so they give me a standing ovation at the end of my lecture which has never happened to me before. But the level of emotion about these findings is very personal to people, to patients, and so we’ve gotten thousands, literally, of e-mails from people thanking us and just wanting to be part of it and can we come and be in your clinical trial and it’s something that people care a lot about and they’ve been waiting a long time I think to see their disease really come to the forefront of genetics to where it should be today so for me personally and scientifically that has been unexpected and tremendously rewarding.

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