@ganetzky.bsky.social
Mito physician scientist, clinical geneticist & educator. Parent/Baker/Former Computer Scientist & All-around nerd
Really delighted to see this paper out: Always a pleasure to collaborate with the CHAMP foundation. I think we have a really important message about how rare disease researchers can collaborate with families to identify outcomes that matter to real-life families
link.springer.com/article/10.1...
link.springer.com/article/10.1...
Single large-scale mitochondrial DNA deletion syndromes: scientific and family conference optimizes the collection of rare disease research outcomes - Orphanet Journal of Rare Diseases
Background The SLSMDS Research Network is a collaborative network comprising patient advocates, researchers, clinicians, and affected families seeking to improve outcomes for individuals with single l...
link.springer.com
August 5, 2025 at 1:03 PM
Really delighted to see this paper out: Always a pleasure to collaborate with the CHAMP foundation. I think we have a really important message about how rare disease researchers can collaborate with families to identify outcomes that matter to real-life families
link.springer.com/article/10.1...
link.springer.com/article/10.1...
I am less than 20 pages into @emilytesh.net’s brilliant new novel, Incandescent, and my mind is racing about how problematic my habit of giving the TCA cycle enzymes their own little personalities would be in that world.
May 17, 2025 at 1:28 AM
I am less than 20 pages into @emilytesh.net’s brilliant new novel, Incandescent, and my mind is racing about how problematic my habit of giving the TCA cycle enzymes their own little personalities would be in that world.