Tag Archive: gene sequencing

Mar 02 2015

Finding New Genetic Syndrome Ends Medical Odyssey for Families

CHOP medical geneticist and researcher Ian Krantz, MD, has been a tireless detective in his efforts to find out what genetic syndrome could be behind Leta’s constellation of symptoms.

Permanent link to this article: http://blog.research.chop.edu/finding-new-genetic-syndrome-ends-medical-odyssey-families/

Mar 17 2014

New Gene Sequencing Test to Speed Donor Matching, Research

Genetics experts at The Children’s Hospital of Philadelphia have developed a unique test to characterize the genes that encode HLA molecules.

Permanent link to this article: http://blog.research.chop.edu/new-gene-sequencing-test-speed-donor-matching-research/

Feb 14 2013

Unlocking the Secrets of Mitochondria

A team led by CHOP’s Marni J. Falk, MD, has expanded next-generation gene tools designed to sequence nuclear DNA to analyze a separate source of DNA — that found within mitochondria. Mitochondria are key suppliers of the energy needed for the multiple functions of our cells. Mitochondria contain their own DNA, and play a pivotal role in human health and disease.

Permanent link to this article: http://blog.research.chop.edu/unlocking-the-secrets-of-mitochondria/