iiinova — where your digital self keeps evolving

Jamie Fraser, MD, PhD @neurometabolism.bsky.social · 14/04/2026

Had the privilege to hear @peterhotezmdphd.bsky.social speak today as part of the @childrensnational.bsky.social Research, Education, & Innovation Week! What an incredible educator, thinker, and physician-scientist! Thank you, Peter, for returning to DC and for all you do!

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Jamie Fraser, MD, PhD @neurometabolism.bsky.social · 29/10/2025

With the federal government shutdown, NIH research is paused, but so are their comms offices. The hard work to treat this #raredisease was done by #NIH researchers & paid for by federal tax dollars. Now, there’s excellent data to support FDA approval! www.nih.gov/news-events/...

- The CALIBRATE study of encaleret for patients with ADH1 met all pre-specified primary and key secondary efficacy endpoints

- The primary endpoint was met with 76% of participants administered encaleret achieving both serum and urine calcium within the respective target ranges at Week 24 compared to 4% when on conventional therapy at Week 4 (p<0.0001)

- In a key secondary analysis, 91% of participants administered encaleret achieved intact PTH above the lower limit of the reference range at Week 24 compared to 7% of participants when on conventional therapy at Week 4 (p<0.0001)

- Encaleret was well-tolerated with no discontinuations related to study drug

- NDA submission planned in the first half of 2026 to support full approval

- BridgeBio plans to initiate registrational studies of encaleret in chronic hypoparathyroidism and pediatric ADH1 in 2026

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Jamie Fraser, MD, PhD @neurometabolism.bsky.social · 29/08/2025

Reposting - please throw me a referral!!!

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Jamie Fraser, MD, PhD @neurometabolism.bsky.social · 24/04/2025

The ACHDNC provides essential guidance and expertise to help protect newborns from ~treatable~ disorders that would otherwise cause severe, debilitating outcomes, including death. Newborn screening saves newborns’ lives and futures.

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Jamie Fraser, MD, PhD @neurometabolism.bsky.social · 24/04/2025

For #RareDisease advocates, please read below. Please reach out to your legislators to express your concerns.

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Reposted by Jamie Fraser, MD, PhD

Pam Herd @pamherd.bsky.social · 24/04/2025

An update to show the seismic crash in NIH funding. The left side shows NIH has issued almost no "new" awards since Trump took office. Even renewals (you receive a 5 year award, but each year they renew it), which should be mushed into the lines above it, is shockingly low.

Figures showing NIH funding over time on new and renewals grants. We've basically never seen funding this low (and by a large amount)

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Reposted by Jamie Fraser, MD, PhD

Shematologist, MD @shematologist.medsky.social · 14/02/2025

Polycythemia makes you red, Methemoglobinemia makes you blue. Your body makes 2 million red blood cells per second, Happy Valentines Day to you!

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Jamie Fraser, MD, PhD @neurometabolism.bsky.social · 30/01/2025

Individuals with disabilities or differences can and do perform complex professional duties inside and outside of government service as well or better than those without obvious disabilities or differences.

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Jamie Fraser, MD, PhD @neurometabolism.bsky.social · 30/01/2025

Our family and community grieve for the families of those lost in last night’s horrific tragedy.

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Reposted by Jamie Fraser, MD, PhD

Susanne Ahmari @ahmarilab.bsky.social · 22/01/2025

🚨🗣️Put together a PA senator/rep call-script re: #NIH (thx @vscooper.micropopbio.org+@nanopharmnc.bsky.social!) "I work at a university but I’m essentially an entrepreneur running a small business. I currently employ 8 people at good wages, ranging from $XX-$XX, and also pay my own salary.

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Reposted by Jamie Fraser, MD, PhD

Chris Pickett @chrispickett5.bsky.social · 22/01/2025

Two things concerned scientists can do: 1. Call your members of Congress and explain how disruptions in funding would be disastrous for jobs and research in their district/state. 2a. Call your dept. chair and express your concern. The goal is to end the convo w/…

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Reposted by Jamie Fraser, MD, PhD

BWJones @bwjones.bsky.social · 22/01/2025

Most folks do not understand how far in advance the planning and logistics of NIH grants take. We prepare for months or years for these submissions for one of 3 cycles per year. This study section cancellation delays grants by at least 6 months when study sections are cancelled.

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Jamie Fraser, MD, PhD @neurometabolism.bsky.social · 15/01/2025

Does anyone in the #Neuroskyence or #WomenInStem community have a strong recommendation for someone to build a lab 👩🏻‍💻website? Would be grateful for referrals and for examples of their work! Please link your lab’s page if you love it!

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Jamie Fraser, MD, PhD @neurometabolism.bsky.social · 29/12/2024

A good and humble man, faithful husband, dedicated American, brave nuclear submariner, an ethical president, and the embodiment of his faith. Rest easy, Mr. President. I hope you and Rosalyn are holding hands on the other side… www.ajc.com/news/former-...

ajc.com

Former U.S. President Jimmy Carter, 100, dies

Former U.S. President Jimmy Carter has died at home in Georgia.

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Jamie Fraser, MD, PhD @neurometabolism.bsky.social · 29/12/2024

And beyond children’s oncology programs, most pediatric hospitals rely on philanthropy to support our care for children with rare diseases and medical complexity of all types!

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Jamie Fraser, MD, PhD @neurometabolism.bsky.social · 26/12/2024

Happiest of holidays to all! Grateful for my loving family, amazing friends, wonderful 📚 books, some downtime from work, time for fun and self-care, and great science.

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Jamie Fraser, MD, PhD @neurometabolism.bsky.social · 26/12/2024

Thrilled to share that our lab received notice of award for a grant to identify and validate biomarkers of disease in LCC/Labrune syndrome 🧠 from the United Leukodystrophy Foundation! Grateful for strong advocacy partners in the quest for new therapeutic advances! #RareDisease

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Jamie Fraser, MD, PhD @neurometabolism.bsky.social · 12/11/2024

Updating BlueSky with some recent 🧬🧠🧪 wins! 🧵in progress… doi.org/10.1212/WNL....

Photo of the title and abstract of a manuscript published in the journal Neurology entitled “Fetal Brain MRI Abnormalities in Pyruvate Dehydrogenase Complex Deficiency”. The post contains a link to the article with the abstract accessible.

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Jamie Fraser, MD, PhD @neurometabolism.bsky.social · 10/11/2024

I’m Jamie, a physician 👩🏻‍⚕️ scientist 👩🏻‍🔬 who studies the mechanisms by which rare genetic 🧬and metabolic disorders cause neurological 🧠 disease! I use 🐁, 🧫, 🧪, and 🔬. I’m a wife and a mom to 2 awesome future STEMinists 👧🏼👩🏻. I overuse emojis. @ Neurometabolism on most platforms….

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Jamie Fraser, MD, PhD @neurometabolism.bsky.social · 13/03/2024

It’s time for #ACMG2024!!! Stoked for 🧬 🤓 times! Any 🧬 pals on BlueSky yet?

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Jamie Fraser, MD, PhD @neurometabolism.bsky.social · 12/02/2024

@thesiswhisperer.bsky.social & @drjd.bsky.social great first pod of S5! Inger, as an academic MD, PhD with all the usual demands: teaching, meetings, running a research lab, etc. I would ❤️ if the survey on ND academics includes ? for 👩🏻‍⚕️👩🏻‍🔬 as we have demands of patient care, which must be 1st. Thanks!

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Jamie Fraser, MD, PhD @neurometabolism.bsky.social · 05/02/2024

GenX Grammy music was the vibe I needed today! Love that Tracy felt the love. Love that Luke Combs respected Tracy Chapman and the music. Love that the stars loved it as much as I did. Loved Taylor for enjoying the moment. Today’s going to slay as I write my grants to good 🎶!

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Jamie Fraser, MD, PhD @neurometabolism.bsky.social · 18/11/2023

6 (!) lab group abstracts submitted to 🧬 ACMG for #ACMG2024 before the deadline! 🤞#ProudPI

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