by Ethan Perlstein | Oct 25, 2018 | NGLY1 |
This past summer was a rare disease conference-palooza. In July, I attended the 2018 NGLY1 Conference, hosted by Grace Science Foundation (GSF) in Palo Alto. It was the 5th gathering of families and scientists from around the world, united behind one goal: to find a...
by Ethan Perlstein | Sep 20, 2018 | PMM2-CDG |
Last week, we posted a preprint describing new yeast models of Phosphomannomutase 2 Deficiency, or PMM2-CDG, the most common congenital disorder of glycosylation in the world. This PMM2 model preprint is our second preprint on bioRxiv which, for the uninitiated, is...
by Ethan Perlstein | Sep 7, 2018 | Rare Diseases |
Earlier this summer, I attended the Mitochondrial Medicine 2018 conference in Nashville. Hosted by the United Mitochondrial Disease Foundation (UMDF), the conference had attendees from almost every state in the US, and more than 15 countries around the world. A few...
by Ethan Perlstein | Aug 11, 2018 | Rare Diseases |
In late June, I attended the Mucolipidosis Type IV Foundation’s ML4 Family and Research Conference in Atlanta. It was my first time attending and presenting at this intimate, biennial gathering of families, scientists and physician scientists, some of whom have known...
by Ethan Perlstein | Jul 31, 2018 | Pancreatitis |
Earlier this month we announced our 7th PerlQuest! Our new Pancreatitis PerlQuest partnership is with Mission: Cure, a nonprofit organization whose mission is to find a cure and improve the quality of life of those affected by pancreatitis and, in the process,...
