Through our new collaboration with Oxford Nanopore Technologies, the Molecular Genetics Core is offering advanced, real-time, long-read sequencing services designed to meet the needs of startups and scientific teams tackling complex genomics challenges. The PromethION 24 enables deep genomic insight with scalability and speed—unlocking structural variants, repeat expansions, and previously inaccessible regions of the genome.

In a recent interview, Dr. Sid Srivastava sheds light on the critical challenges facing access to genetic testing for neurodevelopmental disorders (NDDs). Despite the growing number of genes linked to these conditions and the rise of targeted treatments, inconsistencies in genetic testing practices pose significant barriers to precision medicine. A working group from the National Intellectual and Developmental Disabilities Research Center has tackled this issue in their study, “Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders,” published in the Annals of Neurology. Their research emphasizes the need for unified national guidelines to reduce confusion, improve access and enhance precision medicine in this field. In the article, the group has put forth a series of recommendations to address these challenges.

Genetic counselor, Matt Burgess delves into Dr. Maya Chopra's captivating journey of researching rare and complex disorders, providing an intriguing insight into the intersection of research and clinical practice. Listen to Demystifyng Genetics podcast as they explore the crucial role of clinical geneticists in the fast-paced world of gene therapy.

Catherine Browning's research focuses on gene discovery for several severe genetic disorders including very early onset psychosis, intellectual disability, autism spectrum disorder, and hypophosphatemic rickets. Recently, her work has focused on women’s genetic syndromes as well as access to genetic medicine by underrepresented groups. While not in the lab, Dr. Brownstein loves to travel and adores her pets. Including a surprise aquatic specimen brought home by her kids.

How do relatively so few genes control the development of the highly complex nervous system and ensure its healthy diverse functions, and which genes are drivers of neurological/psychiatric disease or disease risk? Dr. Clifford Woolf discusses how state-of-the-art gene-editing and gene-manipulation technology helps our understanding of pain, the formation of neural circuits during development, and the failure of regeneration of the adult CNS.

The Rosamund Stone Zander Translational Neuroscience Center at Boston Children's Hospital will transform the field as the first of its kind pediatric-focused translational neuroscience center.