Mutations in the WDR26 gene appear to contribute to a condition marked by intellectual disability, facial dysmorphism, and movement problems.
In PLOS this week: common variants linked to neuroblastoma susceptibility, rabies virus phylogeography, and more.
The study will use NantHealth's GPS Cancer test to help treat adult and pediatric brain cancer patients.
The researchers plan to investigate whether whole-genome sequencing can cost-effectively improve the diagnostic rate for leukodsystrophy patients.
The study, which is still ongoing, also provided support for a separate Phase 2/3 trial of a targeted treatment for the neurodevelopmental disorder.
NantHealth, CHOP, and their collaborators intend to release genomic, transcriptomic, and proteomic data from 1,600 patients in the next six months
Called the Roberts Collaborative for Genetics and Individualized Medicine, the program was established with a $25 million gift from Comcast CEO Brian Roberts and members of his family.
Scientists introduced an indel to a promoter region to mimic a benign, naturally-occurring mutation that activated fetal hemoglobin production.
The recommendations resulted from two meetings that brought together physicians, lab workers, researchers, genetic counselors, and patient families from the US and Canada.
Cavatica is a project of CHOP's Center for Data Driven Discovery in Biomedicine and is part of its commitment to the Precision Medicine Initiative.
The Washington Post reports that a Russian Academy of Sciences commission has led to the retraction of hundreds of scientific papers.
The Los Angeles Times' Daily Pilot reports the chief executive of Vantari Genetics has pleaded guilty in a kickback scheme.
News 4 Jax reports that a Florida bill to prevent life and long-term care insurers from using genetic information in their coverage decisions has easily passed one committee.
In Science this week: potentially pathogenic mutations found in hematopoietic stem cells from young healthy donors, and more.