I am honored to receive the Hower Award from the Child Neurology Society, an award representing not only personal achievement, but the collective journey of many extraordinary people who shaped my path, working together to make a difference for those with rare disease

Coffee break with my amazing mentees at CNSAM#neurogenetics-thinktank#CNS2025

🧠 Dive into the legacy of the Human Genome Project, the Undiagnosed Diseases Network, eponymous syndromes & newborn screening—and how they shaped modern neurogenetics. Join our @AANmember webinar 🔗 Register: https://t.co/qeshTWIvxX

In a new editorial, @AndreaGropman, MD, and Alexis C. Komor, PhD (@KomorLab), describe the foundations of an N-of-1 gene-editing study to treat an infant with a urea-cycle disorder. Read the editorial: https://t.co/DGBBKbEX2r #ASGCT2025 | @ASGCTherapy

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

Neurology Podcast: Dr. Andrea Gropman and Dr. Stefan Pulst discuss the significant advancements in Neurology® Genetics over the past decade. Listen now: https://t.co/Tz5Z6POiql #NeuroTwitter #NeuroGenetics @AndreaGropman

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…

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.

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’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

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

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

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

#StJudeResearch

Attending my first faculty retreat at St Jude #StJudeRrsearch

Having a great ASHG with my mentees!!

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

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 @ChildNeuroSoc @StJudeResearch

Thanks everyone for a wonderful tribute !

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.