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Monday, January 15, 2018
A father of a USP7 patient shares his daughter's medical journey.
Wednesday, December 6, 2017
Find out how the Undiagnosed Disease Network identified a novel "gain-of-function" mutation in calcium channel gene (CACNA1A), which could help to diagnose and potentially treat many children like her.
Tuesday, December 5, 2017
Charif Souki donates 10 million dollars to the Jan and Dan Duncan Neurological Research Institute to support neurological research.
Friday, October 27, 2017
NRI physician-scientist, Dr. Hsiao-Tuan Chao receives the 2017 STAT Wunderkind Award.
Monday, October 9, 2017
Dr. Huda Zoghbi receives this year's George Jacoby Lectureship.
Wednesday, September 20, 2017
Two sisters suffering from an identical mystery disorder identified to carry a rare SCN4 mutation by the Undiagnosed Disease Network.
Tuesday, September 5, 2017
Inagural recipient of the NRI Zoghbi Scholar Award announced.
Saturday, September 2, 2017
The honor is given annually to Baylor College of Medicine faculty who have made the most significant published scientific contribution to clinical or basic biomedical research during the past three years.
Friday, August 25, 2017
NRI, Baylor College of Medicine, Texas Children's Hospital and Alzheimer's Association to host the 2017 Congressional update
Wednesday, August 2, 2017
Bristol was recently diagnosed with a neurodevelopmental condition, a disorder so new she is the first patient to be identified with it at Texas Children’s or anywhere else in the world!
Wednesday, July 26, 2017
Out of nearly 200 applicants, Holder is one of 17 physician/scientists across the United States who were selected for the award.
Wednesday, May 24, 2017
Named for the late Dr. Harold Weintraub, the award honors Weintraub's scientific leadership in the field of molecular biology and his legacy as an extraordinary mentor, colleague, collaborator and friend.
Tuesday, May 16, 2017
For most of our 7-year-old daughter Tess's life, we've been on our own. Her ultra-rare mutation in her USP7 gene has no awareness day, bumper sticker or fun run.
Wednesday, May 3, 2017
The American Academy of Neurology is the world's largest association of neurologists and neuroscience professionals, with 32,000 members.
Wednesday, May 3, 2017
USP7 is like the rheostat that controls your lights, in one key way: it allows precise fine-tuning within those cells, so the protein recycling happens just right.
Tuesday, March 28, 2017
This award recognizes some of the most significant medical discoveries from around the world.
Wednesday, March 22, 2017
Reagan was diagnosed with a catastrophic seizure disorder called infantile spasms, for which there is no cure.
Tuesday, March 21, 2017
This article, titled, "Meet the newest contestant in the scientific rat race" was first published in the Spectrum, a leading source of news and expert opinion on autism and republished in The Atlantic.
Wednesday, February 15, 2017
For six months now, I have been doing research on Angelman Syndrome. I have learned advanced laboratory techniques, received hands-on experience with mice and conducted an experiment that I submitted for the school science fair.
Tuesday, January 24, 2017
Most people have never heard of Phelan-McDermid syndrome. Several years ago, I had never heard of it either, but today, finding a cure for this disease has become my life’s mission.