Jamie Fraser, MD, PhD
@neurometabolism.bsky.social
Clinical-Translational Physician-Scientist 🧫🐭🔬🧬🧠 MSTP trained, Fmr NIH fellow in #MedicalGenetics
Researching #Rare Disease, #Neuroscience
#LCC #LabruneSyndrome
#MPAN #Leukodystrophy
#WomenInSTEM #WomenInMedicine
Likes/Posts ≠ Medical Advice
Researching #Rare Disease, #Neuroscience
#LCC #LabruneSyndrome
#MPAN #Leukodystrophy
#WomenInSTEM #WomenInMedicine
Likes/Posts ≠ Medical Advice
Pinned
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….
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/...
www.nih.gov/news-events/...
October 29, 2025 at 1:03 PM
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/...
www.nih.gov/news-events/...
Reposting - please throw me a referral!!!
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!
August 29, 2025 at 12:10 PM
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.
My op-ed about the federal government's termination of the ACHDNC was just published on @statnews.com! I was driven to write this because newborn screening changed the course of my life forever. Please read and repost. www.statnews.com/2025/04/24/a...
#raredisease #raredisorder #newbornscreening
#raredisease #raredisorder #newbornscreening
The volunteer committee advising on newborn screening must be reinstated
Cutting the federal newborn screening advisory committee either demonstrates a lack of understanding of the group’s function or represents a worrisome policy shift.
www.statnews.com
April 24, 2025 at 8:59 PM
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.
A new evolving outrage…
Damaging of the NIH Rare Diseases Clinical Research Network
Damaging of the NIH Rare Diseases Clinical Research Network
a cartoon of homer simpson holding a card
ALT: a cartoon of homer simpson holding a card
media.tenor.com
April 24, 2025 at 7:25 PM
For #RareDisease advocates, please read below. Please reach out to your legislators to express your concerns.
Reposted by Jamie Fraser, MD, PhD
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.
April 24, 2025 at 1:53 PM
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.
Reposted by Jamie Fraser, MD, PhD
Polycythemia makes you red,
Methemoglobinemia makes you blue.
Your body makes 2 million red blood cells per second,
Happy Valentines Day to you!
Methemoglobinemia makes you blue.
Your body makes 2 million red blood cells per second,
Happy Valentines Day to you!
February 14, 2025 at 1:25 PM
Polycythemia makes you red,
Methemoglobinemia makes you blue.
Your body makes 2 million red blood cells per second,
Happy Valentines Day to you!
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.
January 30, 2025 at 5:11 PM
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.
January 30, 2025 at 5:07 PM
Our family and community grieve for the families of those lost in last night’s horrific tragedy.
Reposted by Jamie Fraser, MD, PhD
🚨🗣️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.
"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.
January 22, 2025 at 10:43 PM
🚨🗣️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.
"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.
Reposted by Jamie Fraser, MD, PhD
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/…
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/…
January 22, 2025 at 10:26 PM
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/…
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/…
Reposted by Jamie Fraser, MD, PhD
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.
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.
January 22, 2025 at 11:44 PM
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.
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.
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!
January 15, 2025 at 3:30 PM
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!
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-...
www.ajc.com/news/former-...
Former U.S. President Jimmy Carter, 100, dies
Former U.S. President Jimmy Carter has died at home in Georgia.
www.ajc.com
December 29, 2024 at 9:11 PM
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-...
www.ajc.com/news/former-...
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!
Many pediatric oncology programs rely on philanthropy and have just a small fraction of the resources that St Jude has.
If you’d like to support children with cancer, especially those in your area, consider donating to your local children’s hospital.
If you’d like to support children with cancer, especially those in your area, consider donating to your local children’s hospital.
December 29, 2024 at 1:58 AM
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!
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.
December 26, 2024 at 4:03 AM
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.
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
December 26, 2024 at 3:49 AM
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
November 12, 2024 at 11:44 AM
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….
November 10, 2024 at 4:35 PM
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….
@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!
February 12, 2024 at 1:29 PM
@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!
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 🎶!
February 5, 2024 at 1:22 PM
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 🎶!