We are kicking off Rare Disease Month by talking about Wilson’s disease, a rare, inherited disorder that causes copper to accumulate in the liver, brain, and other vital organs. It is inherited in an autosomal recessive pattern and left untreated, Wilson’s disease can be fatal. Joining us for this episode is Naseem Amin, the CEO of Orphalan, which develops and commercializes treatments for orphan/rare diseases. In this episode we are exploring Wilson’s disease and the FDA-approved treatment, Cuvrior.

Naseem Amin (he/him) joined Orphalan in 2017 bringing thirty years of international industry experience in Research and Development, Corporate and Business Development, Venture Capital and Marketing. Naseem previously served as Executive Chairman at Arix Bioscience Plc, listed on the LSE, Venture Partner at Advent Life Sciences, Chief Scientific Officer at Smith and Nephew, where he oversaw corporate R&D, divisional manufacturing, QA/QC and product development functions. Prior to Smith and Nephew, Naseem led the business development functions at both Biogen and Genzyme Therapeutics. For both companies, he initiated and executed a number of transformative acquisitions and transactions.

Naseem has also led the clinical development of five currently marketed therapeutic products. He started his career at Baxter Healthcare where he had executive roles in marketing, product development and clinical research. In addition to his role at Orphalan, Naseem currently serves as a board member and advisor to several not for profit organizations, and a publicly listed biotechnology company listed on the NASDAQ. Naseem is a qualified medical doctor, from the University College Medical School, London and has an MBA from Kellogg Graduate School of Management at Northwestern University.

On This Episode We Discuss:

Differences in metabolism in individuals with Wilson’s disease (WD)
How an accumulation of copper affects the body and body systems that are most affected
How and when WD is diagnosed

Signs that someone may have WD
Pathogenic variants (mutations) that have been identified in the ATP7B gene
The number of people affected by WD

Current/standard treatment recommendations for people with WD and how Cuvrior differs from these treatments
When Cuvrior, now FDA-approved, is officially launching in the US
When it is appropriate for people with WD to start taking Cuvrior
Long-term studies and documented benefits of starting the medication earlier in life

To learn more about Wilson’s disease and find patient information, visit Orphalan's website.

You can also learn more about Cuprior (the name of Cuvrior in Europe with EMA approval) here.

Stay tuned for the next new episode of DNA Today on February 10th! New episodes are released every Friday. In the meantime, you can binge over 220 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel.

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As a listener of DNA Today, you probably heard me talk about NIPT, non-invasive prenatal screening, that looks for extra or missing chromosome conditions during pregnancy. But did you know there is one that can also screen for recessive disorders (like cystic fibrosis) and fetal antigens? BillionToOne offers UNITY Screen, which does all this from one blood draw from a pregnant person. Visit unityscreen.com for more info. And stay tuned for our upcoming episodes with BillionToOne exploring non-invasive prenatal screening for recessive conditions and red blood cell fetal antigens (Sponsored)

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