Tag Archive: Next Generation Sequencing

Nov 22 2016

Leukodystrophy Research, Advocacy Mission Critical for New Program Director

LeukodystrophyDr. Vanderver, a child neurologist and geneticist, helped to pinpoint a rare subtype of leukodystrophy, a group of inherited degenerative diseases that affect the white matter in the brain and spinal cord.

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Aug 4 2015

New Ways Needed to Predict, Treat Relapsed Leukemia

leukemiaDespite advances in T-cell acute lymphoblastic leukemia treatment, between 15 and 20 percent of children who achieve an initial complete remission will relapse. They may need more intensive therapy or alternative approaches, but physicians do not yet have a reliable way of predicting which patients are at high-risk of relapse.

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Feb 26 2013

Using Next-Generation Sequencing to Understand and Treat Disease

next-generation sequencingHow time flies! It seems almost impossible that the many events of 2003 are now almost ten years in the past. It’s also hard to believe that the completion of the Human Genome Project, a government-led initiative involving researchers from all around the world, was nearly a decade ago.

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Jan 25 2013

CHOP Geneticists to Be Featured on Religion & Ethics Newsweekly

Stay tuned! The work of married CHOP geneticists Ian D. Krantz, MD, and Nancy B. Spinner, PhD, will be featured on PBS’s Religion & Ethics Newsweekly this Friday, January 25. The program will air online ahead of its being shown on television.

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Dec 21 2012

CHOP Researchers’ DNA Work Highlighted in Time

Time_cover_12.24.12After a decade of work and at an expense of nearly $3 billion, the sequencing of the human genome was completed in 2003. Advances since then have made individual sequencing much more widely available — an individual’s genome can now be sequenced in months, for a few thousand dollars.

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Dec 6 2012

CHOP Researchers Identify Two Gene Mutations Linked to Neuroblastoma

NeuroblastomaFor decades, researchers at The Children’s Hospital of Philadelphia have worked to better understand and treat neuroblastoma, a cancer of nerve tissue.Neuroblastoma is frequently aggressive, causing approximately 12 percent of all childhood cancer deaths. In high-risk forms of the disease, the cancer tends to return after initial treatment, often with deadly results.

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