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.

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.

Large and small scale structural variants in the human genome might modulate gene expression in ways that influences physiological response and/or the clinical course of disease. Many of these structural variants go unrecognized using standard Next Generation Sequencing (NGS). The Bionano Genomics Saphyr System overcomes these limitations. Bionano Saphyr and one of the only OGM systems in Boston.

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.

Promising Gene Therapy Pathways for Combating Central Nervous System Diseases. Dr. Zhigang He, Professor of Neurology and Ophthalmology, Harvard Medical School, discusses how developing efficient BBB-penetrating recombinant AAV vectors shows great promise for enabling gene therapy for treating Central Nervous System (CNS) diseases including those relating to intellectual and developmental disabilities.

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.