talkowski

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About talkowski

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So far has created 12 blog entries.
2202, 2018

XDP study published in Cell

By |February 22nd, 2018|Talkowski Laboratory|0 Comments

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 […]

1110, 2017

Chelsea Lowther joins the Talkowski Lab

By |October 11th, 2017|Talkowski Laboratory|0 Comments

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 […]

1110, 2017

Xuefang Zhao joins the Talkowski Lab

By |October 11th, 2017|Talkowski Laboratory|0 Comments

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 […]

2803, 2017

Kiana Mohajeri and Ryan Collins both awarded NSF Graduate Research Fellowships in genomics

By |March 28th, 2017|Talkowski Laboratory|0 Comments

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 […]

903, 2016

Strategy to recreate large DNA changes linked to autism

By |March 9th, 2016|Talkowski Laboratory|0 Comments

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. […]

2902, 2016

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

By |February 29th, 2016|Talkowski Laboratory|0 Comments

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.

2902, 2016

Joseph Glessner awarded 2015 FMD Fellowship

By |February 29th, 2016|Talkowski Laboratory|0 Comments

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.

1910, 2015

Claire Redin at ASHG 2015

By |October 19th, 2015|Events, Talkowski Laboratory|0 Comments

Selected for a Plenary Talk, Claire presented the latest results from the DGAP study.

“By mapping the breakpoints, we were able to identify genes that were disrupted in patients with birth defects, which suggests that these genes play a key role in normal brain development. ¬†Our eventual goal is to be able to predict the effects of […]

2508, 2015

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

By |August 25th, 2015|Talkowski Laboratory|0 Comments

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 […]

2507, 2015

Characterizing the functional genomic consequences of a new autism gene

By |July 25th, 2015|Talkowski Laboratory|0 Comments

We previously published a paper that described the discovery of many new genes contributing to autism and neurodevelopment (Talkowski et al., 2012, Cell). Among these loci was a series of genes involved in chromatin modification and transcriptional regulation, which proposed a new pathway of genes involved in autism and neurodevelopment. Most prominent among […]