Excited for the second installment of this collaboration between SIMD and our colleagues at the FDA. Hope to see many of you virtually!
16.05.2025 23:06 β π 0 π 0 π¬ 0 π 0
Register today for the 5/28/25 SIMD Webinar
Regulatory Perspectives: Clinical Outcome Assessments in Clinical Trials for IEM
speakers-
Maura Ruzhnikov, MD, FACMG, FDA
and
Naomi Knoble, PhD, FDA
Register here: us02web.zoom.us/webinar/regi...
#inbornerrorsofmetabolism
#inheritedmetabolicdisorders
16.05.2025 22:28 β π 0 π 1 π¬ 1 π 0
Honored to talk with Ben about homocystinuria, genetic testing, and stake holder engagement in science. It was an amazing way to celebrate Rare Disease Day. hcunetworkamerica.org/hcu-podcast/
28.02.2025 21:28 β π 1 π 0 π¬ 0 π 0
It's worth celebrating all the good news in science. Proud to watch Nicole Garcia Tubens (HMGGP PhD student) present her rotation project on lysine metabolism
It's worth celebrating all the good news in science. Proud to watch Nicole Garcia Tubens (HMGGP PhD student) present her rotation project on lysine metabolism
25.02.2025 03:29 β π 5 π 0 π¬ 0 π 0
15.02.2025 23:29 β π 2 π 1 π¬ 0 π 0
Dietary management is the mainstay of therapy for a significant number of IMD which can lead to disruption of breast feeding but, aside from classic galactosemia, it is at least feasible
read on: doi.org/10.1002/jimd...
#visualabstract #breastfeeding
07.02.2025 09:27 β π 5 π 2 π¬ 1 π 0
The call for proposals is open for the 2026 SIMD meeting in Rio Grande, Puerto Rico. This is a great opportunity to help shape the scientific content of the annual meeting. For more information visit simd.org
25.01.2025 20:09 β π 0 π 0 π¬ 0 π 0
From everyone at the JIMD we're sending Season's Greetings and wishing you all the best for 2025.
25.12.2024 11:45 β π 8 π 1 π¬ 0 π 0
We are excited to share our work on newborn screening for #PDE, which was just published in Mol Genet Metab. This is a treatable disorder and a delay in diagnosis and treatment occurs far too often.
#rarediseases
16.12.2024 19:09 β π 5 π 0 π¬ 0 π 0
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