Tag Archive: DNA

Feb 12 2019

Informatics Driven Clinical Genomics: Q&A With Mahdi Sarmady, PhD

Scientists are driving new discoveries about the role of genetic variation in specific human disorders at an exciting and unprecedented pace, and physicians are increasingly incorporating genetic tests into pediatric clinics as a diagnostic tool. But with high-throughput sequencing methods continuously yielding floods of new information, how can clinicians keep up with updated data for patients who have already received genetic test results?

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Oct 29 2014

Mitochondria Study Offers Insights into Diseases’ Underlying Causes

mitochondriaRecent work by a mitochondrial medicine pioneer from The Children’s Hospital of Philadelphia details how subtle changes in mitochondrial function may cause a broad range of common metabolic and degenerative diseases.

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Jan 16 2014

Repairing DNA, One Cell at a Time

blindnessHigh is one of the world’s leading experts in gene therapy, which has long been a “next big thing” in medicine: Take a person with a devastating genetic disease and replace their nonfunctional gene with a normal one — a cure built right into your DNA.

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Jul 16 2013

CHOP Research Announces New DNA-Protein Interaction Affinity Group

DNA-Protein InteractionSince the completion of the Human Genome Project, there has been a natural surge in biomedical research aimed at gene discovery. Using genome-wide association studies (GWAS), bioinformatics, and other approaches, this process has focused largely on determining what genes are implicated in specific diseases.

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Feb 14 2013

Unlocking the Secrets of Mitochondria

mitochondriaA 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.

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