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 [...]
The Genome Aggregation Database (gnomAD) has published a collection of research articles and related content in Nature that describe and analyze human genetic variation. The Talkowski lab contributed to the flagship paper in addition to publishing our own contributing paper.
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 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 [...]
Xuefang joined the Talkowski lab in June 2017 as a postdoc fellow after receiving a Ph.D in Bioinformatics and a Masters in Statistics from the University of Michigan at Ann Arbor. She will be working as a member of the structural variation team pursuing applications of structural variation methods development to human disease cohort, with [...]
The Talkowski Lab is thrilled to announce the awarding of a fellowship grant to two of our PhD students, Ryan Collins and Kiana Mohajeri. Both Kiana and Ryan were awarded the Graduate Research Fellowship from the NSF in the field of genomics. Ryan and Kiana were chosen out of over 13,000 applications. There were a [...]
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 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.
Joseph Glessner has been awarded the Executive Committee On Research (ECOR) Tosteson & Fund for Medical Discovery (FMD) Postdoctoral Fellowship Award (15-2) for 9/1/2015-8/31/2016.
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 [...]