News
NRI, Baylor and Texas Children's partner with Alzheimer’s Association to host the 2017 Alzheimer’s Congressional update
NRI, Baylor College of Medicine, Texas Children's Hospital and Alzheimer's Association to host the 2017 Congressional update
How fruit flies helped to find a diagnosis for my daughter
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!
Dr. Holder receives Doris Duke Charitable Foundation's 2017 Clinical Scientist Award
Out of nearly 200 applicants, Holder is one of 17 physician/scientists across the United States who were selected for the award.
Bellen Lab researcher receives the Harold M. Weintraub Graduate Student Award
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.
We have our USP7 family
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.
NRI physician-scientists receive prestigious research scholarships from the American Academy of Neurology
The American Academy of Neurology is the world's largest association of neurologists and neuroscience professionals, with 32,000 members.
Now there are eight
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.
Dr. Zoghbi honored with the 2017 Gairdner Canada International Award
This award recognizes some of the most significant medical discoveries from around the world.
Reagan's story
Reagan was diagnosed with a catastrophic seizure disorder called infantile spasms, for which there is no cure.
NRI researchers featured in Spectrum News and The Atlantic
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.
My journey from a patient to a scientist
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.
Why I am a passionate advocate for research in rare diseases
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.
Our long journey to a SON diagnosis
In 2013, we met and consulted with Dr. Christian Schaaf. Recently, he had identified genetic mutations responsible for two new neurological disorders, and we felt very hopeful that he may be able to find an answer for Kylie’s mysterious condition.
Huda Zoghbi awarded the Shaw Prize in Life Science and Medicine 2016
The prize honors individuals, regardless of race, nationality, gender and religious belief, who have achieved significant breakthrough in academic and scientific research or applications and whose work has resulted in a positive and profound impact on mankind.
Dr. Huda Zoghbi - An Advisor to the Exciting New Chan Zuckerberg Initiative
Mark Zuckerberg, Facebook's chief executive, and his wife, Dr. Priscilla Chan, founders of the Chan Zuckerberg Initiative, announced a $3-billion-dollar pledge to go towards an ambitious goal of preventing, curing or managing all diseases by the end of the century.
Dr. Christian Schaaf featured in TMC News
Read an amazing story in TMC Pulse about the powerful impact of social media on modern medicine.
Dr. Van Den Veyver begins her term as the president of International Society for Prenatal Diagnosis
Established in 1996, the mission of the ISPD is to offer the best prenatal diagnosis and fetal care, with a large focus on prenatal genetics.
Neurological Research Institute hosts a unique symposium on Neurodegeneration
Recently, 400 people from around the world gathered at the Baylor College of Medicine’s Cullen Auditorium to attend an exciting two-day symposium organized by the Neurological Research Institute (NRI) at Texas Children’s Hospital and Baylor College of Medicine.
#FightingForMaya
In 2014, our daughter Maya was diagnosed with Atypical TPP1 Deficiency (aka SCAR 7). At the time of her diagnosis, she was the eighth reported case in the world.
Dr. Christian Schaaf featured on NPR
The journey of Milo Lorentzen reveals what Dr. Christian Schaaf says are two major inadequacies in genetic medicine — the absence of support for families whose kids are ill but don't yet have a diagnosis, and the lack of a clearinghouse where families and researchers can find one another.