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Work on genetic risk factors for Tourette disorder hailed as one of Neuron's top papers for 2016-2017

By Nicholas Weiler and Nicholas Roznovsky

The work of a multi-institution research team led in part by UC San Francisco Department of Psychiatry scientists has been recognized by Neuron with inclusion on the journal's “Best of 2016-2017” list.

Their paper, "De Novo Coding Variants Are Strongly Associated With Tourette Disorder," was cited as one of the five most accessed research papers during the final quarter of 2016 and first three quarters of 2017. Written by a group of top researchers from UCSF, Rutgers University, Massachusetts General Hospital,... Read more ...

While many genomes from healthy humans and patients have been sequenced, we still lack a systematic understanding how human genes function in health and disease, and how they interact in pathways. Interactions of human genes can be elucidated using systematic genetic interaction maps, using an approach pioneered by IND faculty Dr. Martin Kampmann and colleagues at UCSF. In a new publication in Nature Biotechnology, the Kampmann lab teamed up with the McManus lab at UCSF to establish a strategy to determine directional pathways from genetic interaction maps. This innovative platform combines two uses of CRISPR/Cas9 technology in the same cell: activation of genes using CRISPRa (previously co-developed by Dr. Kampmann) and inactivation of genes using CRISPR knockout. The development of the quantitative approach that enables the reconstruction... Read more ...

UCSF colleagues Dr. Martin Kampmann and Dr. James Fraser were awarded a New Frontier Research Award from the Program for Breakthrough Biomedical Research to pioneer a new technology platform. Using deep mutational scanning for the first time in human neurons, they will investigate how sequence variation in proteins affects their aggregation and toxicity, processes relevant to neurodegenerative diseases. Specific mutations in proteins such as tau and alpha-synuclein are known to cause heritable forms of diseases like Alzheimer’s disease and Parkinson’s disease. The proposed platform will make it possible to systematically uncover the significance of all possible mutations. Biophysical and structural approaches will be used... Read more ...

Edited by Dr. Stanley Prusiner, Prion Biology and Prion Diseases is the most comprehensive reference collection on prions to date, with contributions from over 120 authors across the field. These volumes have been greatly expanded from the previous book, Prion Biology and Diseases, published in 2004, and extensively discuss the evolving knowledge and increasing role of various prions in human health and disease. These essential volumes are available from Cold Spring Harbor Laboratory Press and Amazon.

Thank you to the many contributors, who have brought this vast work to fruition.

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