Saturday, May 28, 2022
Mitochondrial Health

Scientific Updates on Organic Acidemias and Homocystinurias – Session 6

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: Jamie L. Fraser, M.D., Ph.D., Director of Myelin Disorders Program and Fetal Genetics, Assistant Professor of Pediatrics, CNMC

0:00 – Introduction (Jamie L. Fraser)
0:31 – Enzyme Therapy for Homocystinuria: Research & Pre-clinical Development of PEG-CBS (OT-58, TVT-058) (Tomas Majtan)
16:26 – Q&A with Tomas Majtan
21:13 – How Elucidating Regulatory Cross-Talk Between Folate and Thiol Metabolism Can Lead to Improved Treatment in Classical Homocystinuria: A Possible Route to the End of Methionine Restriction? (Ken MacLean)
37:34 – Q&A with Ken MacLean
40:48 – Testing All Possible Amino Acid Changes in the Homocystinuria Proteins CBS and MTHFR (Frederick (Fritz) Roth)
1:06:46 – Q&A with Fritz Roth


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