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With $3.2M from NIH, Hopkins, Chicago Researchers Embark on Autism Genotyping Study

NEW YORK, Oct. 12 (GenomeWeb News) - Researchers led by Johns Hopkins University and the University of Chicago have won a three-year, $3.2 million grant from the National Institute of Mental Health to study the genetics of autism, Hopkins said today.


Using Affymetrix microarrays, the scientists plan to study SNPs at 500,000 locations in samples from 465 affected families, including 979 individuals with autism. The samples are provided by the Autism Genetics Initiative Data Archive and the Autism Genetic Resource Exchange.


In addition, the researchers plan to look for genes that are present in extra copies, using digital karyotyping, a technique that looks for additional copies of about 400,000 short stretches of DNA.

The Scan

Drug Response Variants May Be Distinct in Somatic, Germline Samples

Based on variants from across 21 drug response genes, researchers in The Pharmacogenomics Journal suspect that tumor-only DNA sequences may miss drug response clues found in the germline.

Breast Cancer Risk Gene Candidates Found by Multi-Ancestry Low-Frequency Variant Analysis

Researchers narrowed in on new and known risk gene candidates with variant profiles for almost 83,500 individuals with breast cancer and 59,199 unaffected controls in Genome Medicine.

Health-Related Quality of Life Gets Boost After Microbiome-Based Treatment for Recurrent C. Diff

A secondary analysis of Phase 3 clinical trial data in JAMA Network Open suggests an investigational oral microbiome-based drug may lead to enhanced quality of life measures.

Study Follows Consequences of Early Confirmatory Trials for Accelerated Approval Indications

Time to traditional approval or withdrawal was shorter when confirmatory trials started prior to accelerated approval, though overall regulatory outcomes remained similar, a JAMA study finds.