Autor: Clinical genetics

Sarah Urbut, MD, Ph.D., of the Mass General Brigham Heart and Vascular Institute, is the lead author of a paper published in Nature, «A Bayesian framework for longitudinal EHR and genetic discovery.» Pradeep Natarajan, MD, MMSc, also of the Heart and V…

Sarah Urbut, MD, Ph.D., of the Mass General Brigham Heart and Vascular Institute, is the lead author of a paper published in Nature, «A Bayesian framework for longitudinal EHR and genetic discovery.» Pradeep Natarajan, MD, MMSc, also of the Heart and V…

Scientists at Children’s Medical Center Research Institute at UT Southwestern (CRI) have discovered why babies born with a rare inborn error of metabolism called GPT2 deficiency suffer from severe neurological impairment. Using their newly developed bi…

Scientists at Children’s Medical Center Research Institute at UT Southwestern (CRI) have discovered why babies born with a rare inborn error of metabolism called GPT2 deficiency suffer from severe neurological impairment. Using their newly developed bi…

Researchers have uncovered a novel biological pathway that can lead to seizures when disrupted. The findings also provide a new approach to improve the diagnosis of epilepsy, for which a genetic cause cannot be found in about 50% of individuals with th…

Researchers have uncovered a novel biological pathway that can lead to seizures when disrupted. The findings also provide a new approach to improve the diagnosis of epilepsy, for which a genetic cause cannot be found in about 50% of individuals with th…

Parkinson’s disease is the second most common neurodegenerative disease worldwide after Alzheimer’s disease and, according to the World Health Organization, one of the fastest-growing neurological disorders. Yet genetic research into the disease has so…

Parkinson’s disease is the second most common neurodegenerative disease worldwide after Alzheimer’s disease and, according to the World Health Organization, one of the fastest-growing neurological disorders. Yet genetic research into the disease has so…

«I think you always believe it’s never going to happen to me.» That is how one parent described learning that their newborn baby had been identified as being at possible risk of a rare genetic condition through routine newborn screening.

«I think you always believe it’s never going to happen to me.» That is how one parent described learning that their newborn baby had been identified as being at possible risk of a rare genetic condition through routine newborn screening.