Manage episode 301130962 series 99915
Karen Chen is the Chief Executive Officer of the Spinal Muscular Atrophy Foundation. With a background in drug development having worked in pharma and biotech in neurodegenerative diseases like Alzheimer's and Parkinson's, Karen brings a deep understanding of the value of treating rare diseases that are genetically defined.
Karen explains, "The foundation is a little unusual as far as a nonprofit because we are really focused on our sole mission, which is to accelerate the development of treatments for SMA. And unlike other organizations, we're really not focused on raising awareness or raising funds as much as some of our sister SMA nonprofits. So we have really partnered with biotech and pharmaceutical companies to develop drugs for SMA. And SMA is one of the leading genetic causes of death in young children. It's actually the leading genetic killer of children."
"So even though there are three types, four if you include the adult form of SMA, it's all caused by the same underlying missing gene. The differences in severity are really a result of this backup gene that I talked about, SMN2."
#SMA #SpinalMuscularAtrophy #RareDisease #SMN2 #Evrysdi #Spinraza #Genentech #Biogen #SMAAwarenessMonth