Jamie Fraser, MD, PhD

- 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

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/...

Reposting - please throw me a referral!!!

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.

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

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.

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

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.

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

🚨🗣️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.

All of this.

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/…

Welcome! So glad you’re here! Now I can maintain my pecan fix!

Please 🙏 contact your legislators (senators and congressional rep!)! Our colleagues in the federal civil service want to work really hard for the American people!

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.

I would hope to see WHO or CDC verification given the current source. Critical evaluation of source credibility is of profound importance given the pervasiveness of misinformation.

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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Have you curated some lists of topics you find interesting? That has helped me find the old MedTwitter crowd. There are Peds specific skeeters as well. It takes time. I, too, have cut back on all social media time. It’s maybe a good habit to break….

It’s been a minute, but the slopes around Salt Lake City are amazing: Alta and Brighton especially. Park City gets all the attention, but the other 2 are personal favorites with so many wonderful memories.

Former U.S. President Jimmy Carter, 100, dies Former U.S. President Jimmy Carter has died at home in Georgia.

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-...

In the Southern US, we have “Fried Pies” (they can be baked or fried), which are essentially thinly rolled pie crust or biscuit dough stuffed w delicious pie fillings from fruit to chocolate!

Yes!!! I totally agree!!! Our children’s hospitals need local support!

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!

Michigan cherries 🍒 are some of the best! Comparable to our amazing GA peaches and pecans.

I’ve been in the “so many tabs I can’t find anything” situation so many times. Now I use the Pocket extension to save the important ones!

Thank you so much!

Yes! Love the BuJo!!

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.

bsky.app/profile/neur...