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Novel computational approach helps find genetic causes of severe childhood brain disorders

Novel computational approach helps find genetic causes of severe childhood brain disorders

A team of researchers at Children's Hospital of Philadelphia affiliated with the CHOP Epilepsy Neurogenetics Initiative (ENGIN) have combined clinical information with large-scale genomic data to successfully link characteristic presentations of childhood epilepsies with specific genetic variants.

27 Aug 2020

Identifying a new genetic cause of inherited neuropathy

Identifying a new genetic cause of inherited neuropathy

Inherited mutations in a gene that keeps nerve cells intact were shown, for the first time, to be a driver of neuropathy known as Charcot-Marie-Tooth disease.

4 Aug 2020

Researchers create a new mouse model for studying glioblastoma

Researchers create a new mouse model for studying glioblastoma

More than 200 genes with novel and known roles in glioblastoma - the most aggressive type of brain cancer - offer promising new drug targets.

30 Jul 2020

Integrating metabolomics and genomics to improve patient diagnosis

Integrating metabolomics and genomics to improve patient diagnosis

A patient and family walk into a doctor's office. They hope that the latest tests will reveal what is causing the patient's illness and end the diagnostic odyssey they have been going through for years.

8 Jul 2020

Online tool to refine results from RNA sequencing from clinically accessible tissues

Online tool to refine results from RNA sequencing from clinically accessible tissues

DNA sequencing has turned out to be a common method for diagnosing diseases and enhancing precision medicine.

9 Apr 2020

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