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Jul 06, 2017

Single Gene Mutations Implicated in New Intellectual Disability Syndrome

Mutations in the WDR26 gene appear to contribute to a condition marked by intellectual disability, facial dysmorphism, and movement problems.

May 22, 2017

This Week in PLOS: May 22, 2017

In PLOS this week: common variants linked to neuroblastoma susceptibility, rabies virus phylogeography, and more.

Feb 03, 2017

Brain Cancer Coalition Plans Precision Medicine Study

The study will use NantHealth's GPS Cancer test to help treat adult and pediatric brain cancer patients.

Jan 24, 2017

Leukodystrophy Trial Aims to Establish Whole-Genome Sequencing as First-Tier Diagnostic

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The researchers plan to investigate whether whole-genome sequencing can cost-effectively improve the diagnostic rate for leukodsystrophy patients.

Dec 08, 2016

Pediatric ADHD Study Shows Rare Genetic Mutation Underlies Condition in Some Patients

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The study, which is still ongoing, also provided support for a separate Phase 2/3 trial of a targeted treatment for the neurodevelopmental disorder.

Oct 28, 2016

Pediatric Cancer Moonshot Consortium Receives $20M to Study Brain Tumors in Children

NantHealth, CHOP, and their collaborators intend to release genomic, transcriptomic, and proteomic data from 1,600 patients in the next six months

Sep 23, 2016

CHOP Establishes $50M Pediatric Genetics Research Initiative

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.

Aug 15, 2016

St. Jude Study Reshapes Hemoglobin Genetic Disorders With CRISPR/Cas9 Editing

Scientists introduced an indel to a promoter region to mimic a benign, naturally-occurring mutation that activated fetal hemoglobin production.

Jun 03, 2016

Clinical Genetics Experts Offer Advice for Implementing Diagnostic Exome, Genome Sequencing

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The recommendations resulted from two meetings that brought together physicians, lab workers, researchers, genetic counselors, and patient families from the US and Canada.

Mar 03, 2016

CHOP Partners With Seven Bridges to Develop Pediatric Cancer Cloud

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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.

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The Scan

Hundreds and Hundreds Retracted

The Washington Post reports that a Russian Academy of Sciences commission has led to the retraction of hundreds of scientific papers.

Guilty Plea in Kickback Case

The Los Angeles Times' Daily Pilot reports the chief executive of Vantari Genetics has pleaded guilty in a kickback scheme.

Florida Bill Moves Ahead

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.

Science Presents Studies Into Disease-Causing Mutations Among Bone Marrow Donors; Links Between Heavy Drinking, Other Disease

In Science this week: potentially pathogenic mutations found in hematopoietic stem cells from young healthy donors, and more.

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  1. Rare CNVs Associated With Major Disease Categories in Large Study of European Subjects

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