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Feb 2020 News Spotlight

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February 2020
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Dr. Ed Schuchman

Genetic Disease Foundation – Francis Crick Professor

Vice Chair for Research Department of Genetics & Genomic Sciences Mount Sinai School of Medicine

NNPDF Scientific Advisory Board

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Dr. Schuchman is The Genetic Disease Foundation – Francis Crick Professor & Vice Chairman for Research in the Department of Genetics & Genomic Sciences of the Icahn School of Medicine at Mount Sinai in New York. He received his Ph.D. in Human Genetics from Mount Sinai in 1983, and after completing a postdoctoral fellowship in molecular genetics at Yale University, returned to Mount Sinai as a faculty member in 1986. His laboratory has been studying the biology of lysosomal enzymes and storage diseases for over 30 years, resulting in the first isolation of the genes encoding several lysosomal enzymes, including acid sphingomyelinase (ASM), and the first DNA-based screening for ASMD. Based on his work, clinical trials of ERT for ASMD are also underway. He also co-founded Plexcera Therapeutics, where he served as the Chief Scientific Officer and developed the first ERT for Farber disease (acid ceramidase deficiency). Together with his wife, Dr. Calogera Simonaro, Dr. Schuchman also re-purposed a drug called pentosan polysulfate (PPS) for the mucopolysaccharidoses. The National Institutes of Health and other organizations have continuously funded Dr. Schuchman’s research since 1986, and he is the recipient of an NIH MERIT award for his work on ASMD. He has published over 225 peer-reviewed basic research articles and 50 reviews in the area of lysosomal biology and disease, and frequently lectures around the world on these topics.

What inspired you to begin working in the field of Niemann-Pick disease?
I was first inspired to work on Niemann-Pick disease in 1986 as a new faculty member at Mount Sinai when I was introduced to a child with NPC. This left a profound impression on me, and shortly thereafter I began reading about the disease. From this I realized that the biology of NPD was very poorly understood, and that there were only a small handful of laboratories in the world investigating it. Even the relationship of what we now know as ASMD and NPC was not clearly understood at that time. This presented a remarkably interesting scientific challenge to me, and one where I could see that with some hard work and luck my research might make a difference.

What changes have you seen in the field of NP research throughout your career?
Having worked on NPD for over 30 years, the changes I have seen are nothing short of remarkable. As mentioned above, when I first started in this field we still did not have a clear understanding of the difference between ASMD and NPC, and there were no reliable tests to diagnose patients. Of course, the genes had not yet been isolated for either disease, there was no animal model for ASMD (only a mouse model existed for NPC), and no disease specific treatments were being developed. This has all changed, first with the isolation of the genes and identification of mutations, followed by the production of the recombinant ASM and NPC1 proteins, the construction and further development of animal models, and the use of these animal models to evaluate new treatments. Along with these developments came commercial interest and partnerships, which led to clinical trials and has transformed the field of NPD research to where it is today.

How did you come to be involved with the NNPDF?
I first became involved with the NNPDF in the late 1980s, right around the time the organization was being formed and coming into its own. By then my research had begun to focus on ASMD, and as one of the only individuals working on this disease I was in contact with many patients and families from around the world to help educate them about the disease and offer assistance. Many were frustrated because of the small number of family support groups and the lack of information that existed at that time, and in particular the ASMD families often felt alone since most of the groups were focused on NPC and it was very difficult for them to find information and support on ASMD. This led to my early involvement as one of the first scientific advisors to the NNPDF and the UK NPD Group, and later to a large number of the other international NPD family support groups, with the goal of bringing the ASMD and NPC communities under one umbrella.

What do you enjoy the most about your professional role and your volunteer role with NNPDF?
Without a doubt it is coming to know the patients and families and developing long lasting relationships with many of them. This is something that as a laboratory scientist many of us do not have the opportunity to do. I have always found these relationships incredibly motivational to me, and something that I relate to as a father with a child with a chronic disease. I have also felt very satisfied that for the most part the NPD support groups around the world have taken our advice and included ASMD under their umbrellas. I continue to believe that this is extremely important from a support, advocacy and fund-raising perspective, especially for extremely rare diseases such as ASMD and NPC, since there is power in numbers and the NPD community can have much greater influence working together rather than apart.

What do you think the future of NPD looks like?
I strongly believe that we are entering an era where disease-modifying therapies for these diseases will become a reality. However, it is also unlikely that any one therapy will address all aspects of these highly complex diseases, so we will continue to see new research aimed at improving these therapies and examining combinations of drugs in controlled preclinical and clinical trials. This will require continued funding, and for this the NNPDF and other family organizations will continue to play an incredibly important advocacy and educational role. I also believe that newborn screening for these diseases is likely to be implemented, which is important from a treatment perspective but also presents a challenge to understand when treatments should be initiated and to justify this to the reimbursement agencies. This is likely to be an important area of clinical research in the future.