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

I was honored to join Anna Sowa, from CurePDE, and Kristy McKay on the CTI podcast. We talk about PDE and Rare Disease Advocacy in general. What a great way to celebrate Rare Disease Day

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/

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

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

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

From everyone at the JIMD we're sending Season's Greetings and wishing you all the best for 2025.

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