Children's Hospital (Boston, Massachusetts)
A groundbreaking case study published by researchers at Boston Children's Hospital sheds new light on the long-term prognosis of individuals with a specific genetic variant. A 71-year-old female patient with a history of intellectual disabilities, schizoaffective disorder, and psychosis was found to have a novel, heterozygous, predicted loss-of-function
Children's Hospital (Boston, Massachusetts)
A groundbreaking case study published by researchers at Boston Children's Hospital sheds new light on the long-term prognosis of individuals with a specific genetic variant. A 71-year-old female patient with a history of intellectual disabilities, schizoaffective disorder, and psychosis was found to have a novel, heterozygous, predicted loss-of-function
Children's Hospital (Boston, Massachusetts)
A groundbreaking case study published by researchers at Boston Children's Hospital sheds new light on the long-term prognosis of individuals with a specific genetic variant. A 71-year-old female patient with a history of intellectual disabilities, schizoaffective disorder, and psychosis was found to have a novel, heterozygous, predicted loss-of-function
Attention deficit hyperactivity disorder
A comprehensive study on the genetics of Attention Deficit Hyperactivity Disorder (ADHD) has shed new light on the condition's complex genetic architecture. Researchers at Boston Children's Hospital have analyzed the genomes of 150 pediatric ADHD cases and 370 controls, revealing distinct genetic pathways that contribute to
Brain
Boston Children's Hospital announced a donation of $35 million from Hansjeorg Wyss, through the Wyss Medical Foundation, building on a previous transformative gift from his late wife, Rosamund Stone Zander. With this new gift, the Rosamund Stone Zander and Hansjeorg Wyss Translational Neuroscience Center will expand its translational
Child health
Data from Boston Children's Hospital suggest that spinal injuries in children pose a significant clinical challenge for emergency medicine providers, with both rare occurrences and potential for severe morbidity and mortality. Contrary to the notion that spinal injuries are rare, children are at an increased risk for serious
Children's Hospital (Boston, Massachusetts)
In a new study from Boston Children's Hospital, investigators have shed light on the phenotypic spectrum of thyroid-stimulating hormone (TSH) receptor (TSHR) pathogenic variants leading to hyperthyroidism. According to the research, two unrelated individuals, each with a distinct monoallelic de novo TSHR pathogenic variant, developed severe congenital hyperthyroidism
