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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.
Monday, October 10, 2016
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.
Wednesday, September 28, 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.
Thursday, September 22, 2016
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.
Tuesday, September 6, 2016
Read an amazing story in TMC Pulse about the powerful impact of social media on modern medicine.
Monday, September 5, 2016
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.
Monday, July 11, 2016
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.
Friday, June 10, 2016
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.
Sunday, June 5, 2016
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.
Friday, April 22, 2016
CAREER awards support the research and educational development of young scholars who are likely to become leaders in their field.
Friday, March 4, 2016
Dr. Sillitoe combines molecular genetics, neuroanatomical tract tracing, biochemistry, and imaging to investigate the developmental origins of disorders that affect circuit formation.
Thursday, February 25, 2016
The Seldin-Smith Award was established by the American Society for Clinical Investigation (ASCI) to recognize the most promising young physician-scientists in the country.