Newly identified genetic mutation results in intellectual disability and developmental delay April 12, 2018 Scientists have identified a new illness caused by a genetic mutation that gives rise to a wide range of symptoms including intellectual disability
New method can more precisely determine when a cell has ‘cashed’ RNA ‘checks’ written by active genes January 26, 2018 CSHL scientists have designed software that enables biologists to determine with unprecedented accuracy how much protein a given cell is making.
From phages to faces June 15, 2016 In the pilot episode of Base Pairs, two stories of DNA research that show how far the field has come
Discovery of a new X-linked intellectual disability syndrome is aided by web communication tools December 3, 2015 A geneticist uses social media and online tools to help confirm, document and describe in precise clinical detail a new genetic syndrome in young
A shift in the code: New method reveals hidden genetic landscape August 18, 2014 Scientists develop algorithm to uncover genomic insertions and deletions involved in autism, OCD
Team demonstrates power of precision medicine in successful treatment of patient with disabling OCD October 3, 2013 Psychiatrist, geneticist, neurosurgeon & genome sequencers generate data on one patient, with powerful implications for care and counseling.
