ACMG2026 in Baltimore, MD. Always a wonderful conference and my pleasure to be part of the amazing genetics community! @TheACMG#MedicalGeneticsAwareness
Bianca Seminotti, PhD is the 2026 recipient of the #ACMGFoundation Early Career Travel Award, selected for her abstract on congenital NAD deficiency due to biallelic NADSYN1 variants, to be presented at #ACMG26. Details: https://t.co/eCfZr3RMXT @ChildrensPgh
A Tree of Life: The Pittsburgh Synagogue Shooting recounts the deadliest antisemitic attack in American history and the community that came together in its aftermath. #ATreeofLifeDoc premieres October 26 on @HBOMax
For our 'something borrowed' we have:
Mitochondrial energetics is impaired in very long-chain acyl-CoA dehydrogenase deficiency and can be rescued by treatment with mitochondria-targeted electron scavengers
Seminotti, @Guilhian05 et al
https://t.co/bcbgUeEsWV
Although US cases are down 17% in the past week, and hospitalizations are on the decline, the death toll of this 4th wave is profound. And still rising.
3,226 reported today.
Most (>3,000) of these lives would have been saved with prior vaccination.
Remembering Dr Stephen Irwin Goodman, MD, an innovator and pioneer in the field of inborn errors of metabolism, a mentor for numerous colleagues, and a friend for the people around him.
https://t.co/Y6hgWon2pJ
Also a keen photographer:
https://t.co/aoqsZ88MNJ
Our study shows promising beneficial effects of JP4-039 against sulfite, a major metabolite accumulated in isolated sulfite oxidase and molybdenum cofactor deficiencies.
Another fantastic author @NicolasGlanzel made this #visualabstract
The mitochondrial‐targeted reactive species scavenger JP4‐039 prevents sulfite‐induced alterations in antioxidant defenses, energy transfer, and cell death signaling in striatum of rats
https://t.co/BhjQELjfFe
2nd new Accepted Article in last 24 hours:
The mitochondrial‐targeted reactive species scavenger JP4‐039 prevents sulfite‐induced alterations in antioxidant defenses, energy transfer and cell death signaling in striatum of rats
Glänzel et al
https://t.co/BhjQELjfFe
Olha que lindo o decotelli desse vestido que usei na minha formatura em Harvard! O diploma do pós-doc na LSE, em home economics, ainda não fui buscar, em função da pandemia.