Category Archive: Genetics

Jan 16 2013

CHOP Researchers Find New Gene Variants Related to Autism Spectrum Disorders

Genetics researchers at The Children’s Hospital of Philadelphia have found 25 “high impact” gene variants that occur in some patients with autism. Although rare individually, each genetic variant has a strong effect in raising a person’s autism risk. These findings could be incorporated into clinical tests for evaluating children for autism spectrum disorders.

Permanent link to this article: http://www.research.chop.edu/blog/chop-researchers-find-new-gene-variants-related-to-autism-spectrum-disorders-2/

Jan 11 2013

Childhood Brain Tumors at Center of New Research Collaboration

The Children’s Hospital of Philadelphia and China-based BGI-Shenzhen are now collaborating on research into next-generation sequencing to analyze pediatric brain tumors.

Permanent link to this article: http://www.research.chop.edu/blog/childhood-brain-tumors-at-center-of-new-research-collaboration/

Dec 28 2012

Gene Therapy Shows Promise For Helping Children With Canavan Disease

Canavan disease is a rare inherited neurological disorder with devastating effect. The lack of a specific enzyme, called aspartoacylase, causes the body’s central nervous system to break down. The disease is usually fatal before a child reaches the teenage years.

Permanent link to this article: http://www.research.chop.edu/blog/gene-therapy-shows-promise-for-helping-children-with-canavan-disease/

Dec 21 2012

CHOP Researchers’ DNA Work Highlighted in Time

After 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.

Permanent link to this article: http://www.research.chop.edu/blog/chop-researchers-dna-work-highlighted-in-time/

Dec 12 2012

A Year in Review

The holiday season is once again upon us! While it’s a time for family and friends to gather, indulge in traditions, and celebrate this season of giving, it’s also hard to believe another year has passed. In another “I can’t believe it’s already here” tradition, the new edition of the Children’s Hospital of Philadelphia Research …

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Permanent link to this article: http://www.research.chop.edu/blog/a-year-in-review/

Dec 06 2012

CHOP Researchers Identify Two Gene Mutations Linked to Neuroblastoma

For 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. Using powerful gene-analysis …

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Permanent link to this article: http://www.research.chop.edu/blog/chop-researchers-identify-two-gene-mutations-linked-to-neuroblastoma/

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