Scientific Updates on Organic Acidemias and Homocystinurias - Session 1
Channel: National Human Genome Research Institute
Date: 2021-08-02

The National Human Genome Research Institute (NHGRI) and the National Center for Advancing Translational Sciences (NCATS) at the National Institutes of Health co-hosts a virtual meeting on “Scientific Updates on Organic Acidemias and Homocystinurias.”  This meeting brings 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 are also discussed.

About the meeting: https://www.genome.gov/event-calendar/Scientific-Updates-on-Organic-Acidemias-and-Homocystinurias

Chapters: 
0:00 - Introduction/Opening Remarks (Charles Venditti)
2:48 - Genomic Therapies for Methylmalonic and Propionic Acidemia (Charles Venditti)
28:05 - Q&A with Charles Venditti
32:31 - Liver Transplantation in Methylmalonic and Propionic Acidemia (Jerry Vockley)
58:35 - MMA and PA: First Guidelines Revision and Towards Novel Evidence (Patrick Forny)
1:22:40 - Q&A with Patrick Forny
1:29:29 - Role of Mitophagy in Methylmalonic Acidemia (Alessandro Luciani)
1:54:37 - Q&A with Alessandro Luciani