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It’s really important to have all stakeholders in the same room. Thanks for hosting and including our UCDC and NUCDF partners

Great Neurogenetics SIG at ANA: Beyond the mouse:The future of preclinical trials in Neurogenetic Disease. Thanks to the speakers and my co chair, Gemma Carvill

Last day on site. Saying goodbye to colleagues and patients. Bittersweet. Same ID photo for last 12 years

Proud of this young man with a rare metabolic disease. He is living his best life. I was privileged to care for him for 15 years. The field has come a long way but still looking for a cure.

Thanks everyone for a wonderful tribute ! instagram.com/p/DAY9htVSqgn/…

Hi fellow Neurogeneticists and those interested in NG and future of the field, our NG SIG at the CNSAM is November 13th, 6:00 pm - 7:00 pm Marina Kitchen PDR Child Neurology Society St. Jude Research

So excited to receive my endowed chair last night at the St Jude Annual endowed chair ceremony! ⁦St. Jude⁩

Having a great ASHG with my mentees!!

Attending my first faculty retreat at St Jude #StJudeRrsearch

#StJudeResearch

Wow! So much potential collaboration for metabolism and rare cancer#StJudeResearch

I am honored and humbled to be this year’s CNS Hower awardee. Thank you to the awards committee and those who nominated me.

Rare isn’t rare in child neurology. Half of the 30M+ people with a rare disease are children, and many remain undiagnosed. On #RAREDiseaseDay, CNF strengthens the systems that support these families. Awareness is just the start—action makes the difference. 💜 #CNFCommunity

It’s #RareDiseaseDay! With ~1 in 12 affected, RDs represent a significant healthcare burden. The RD diagnostic odyssey is a call for improved RD awareness. The fact that still, only 5% of RDs have a therapy is a sobering reminder of the work we have to do. #RareDiseaseIsNotRare

It was an honor to be part of #RareDiseaseDay2025 at #seattlechildren’s and #PacificNorwestResearchInstitute to recount our incredible journey with #NUCDF as we find cures for #ureacycledisorders #UCDC

It was an honor working on this latest addition with great editors and authors. Check out the new chapter videos and many new, junior faculty authors.

Congratulations Maria Jose on publication of your paper based on your MPH thesis. It was an honor to be part of your thesis committee. Assessing Environmental Justice in Mexico: How Polluting Industries and Healthcare Disparities Impact Congenital He… pubmed.ncbi.nlm.nih.gov/40079194/

Neurology Podcast: Dr. Andrea Gropman and Dr. Stefan Pulst discuss the significant advancements in Neurology® Genetics over the past decade. Listen now: hubs.la/Q03dL-RH0 #NeuroTwitter #NeuroGenetics Andrea Gropman

My daughter’s first oral presentation at an international autism meeting.

In a new editorial, Andrea Gropman, MD, and Alexis C. Komor, PhD (Komor Lab), describe the foundations of an N-of-1 gene-editing study to treat an infant with a urea-cycle disorder. Read the editorial: nej.md/430hLWR #ASGCT2025 | ASGCT