Scientific Updates on Organic Acidemias and Homocystinurias - Session 3

The National Human Genome Research Institute (NHGRI) and the National Center for Advancing Translational Sciences (NCATS) at the National Institutes of Health co-hosted a virtual meeting on “Scientific Updates on Organic Acidemias and Homocystinurias.” This meeting brought together researchers, clinicians, families and patient advocates from around the world to discuss the natural history, disease pathophysiology, genetics and treatments for rare inborn metabolic errors. Opportunities and challenges that patients and their physicians face in several upcoming small molecule, enzyme replacement and genomic phase I/II clinical trials were also discussed.

About the meeting:

Moderator: Elizabeth Ottinger, , Head of Project Management, Therapeutics Development Branch, NCATS

0:00 - Introduction (Elizabeth Ottinger)
0:47 - Machine Learning for Biomarker Data Mining in Organic Acidemias (Oleg Shchelochkov)
14:18 - Q&A with Oleg Shchelochkov
22:32 - Hepatocyte-Based Models and Small Molecule Therapies for MMA/PA (Kimberly Chapman)
36:46 - Q&A with Kimberly Chapman
41:42 - Systemic AAV gene therapy for propionic acidemia (Randy Chandler)
55:55 - Q&A with Randy Chandler
1:02:47 - Pave-GT Program for Organic Acidemias (PJ Brooks)
1:21:59 - Q&A with PJ Brooks
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