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Dr. Talkowski to become the new CGM Director

We are delighted to announce that Michael E. Talkowski, PhD, has been selected to become the next Director of the Center for Genomic Medicine (CGM) at MGH beginning on September 1, 2020. Dr. Talkowski will be the third CGM Director, following two world-class scientists, Dr. Sekar Kathiresan and founding director Dr. James Gusella. With his [...]

XDP study published in Cell

X-linked Dystonia-Parkinsonism (XDP), is a rare Mendelian disorder predominantly observed on Panay island in the Philippines. The clinical phenotype most frequently combines features of dystonia and parkinsonism in a characteristic temporal progression. A region of the X-chromosome was linked to the disorder, yet the pathogenic mechanism has remained elusive. We demonstrate that this disorder is [...]

Chelsea Lowther joins the Talkowski Lab

Chelsea joined the Talkowski laboratory in September 2017 as a postdoctoral fellow, after completing her PhD in Medical Science with Anne Bassett at the University of Toronto in Canada. In the Talkowski laboratory Chelsea will be working on the Developmental Genome Anatomy Project (DGAP) using whole-genome sequencing and computational tools to help identify new genetic [...]

Strategy to recreate large DNA changes linked to autism

Derek Tai, a Postdoctoral Fellow in the Talkowski Lab since 2013 comments on the lab's most recent Nature Neuroscience paper of which he is first author: "Recently, we developed a new CRISPR approach which can directly target perfectly homologous sequences in the segmental duplications and model the reciprocal dosage imbalances that occur via NAHR mechanisms. [...]

Ryan Collins to join PhD program at Harvard Medical School in Fall 2016

Ryan has accepted an offer to join the Bioinformatics and Integrative Genomics (BIG) PhD program at Harvard Medical School. He will be starting his PhD at HMS in fall 2016 and intends to continue his research on structural variation and genome architecture in human diseases into this next career stage as a PhD student.

Discovery of a new class of complex genomic variation that is remarkably common

In a recently published manuscript, we demonstrated the potential impact of complex and cryptic chromosomal abnormalities in children with early onset neuropsychiatric disorders. In this study, we find that the mainstay of genetic testing for prenatal and pediatric developmental anomalies of unknown etiology, clinical microarray to detect copy number variants (CNVs), is insufficient to detect [...]