Category Archive: Genetics

Apr 16 2013

Marketplace Report on DNA Sequencing Features CHOP Doc

A report on American Public Media’s Marketplace on DNA sequencing and its effect on (and creation of) personalized medicine — “the next big thing in health care” — featured input from CHOP’s Nancy B. Spinner, PhD.

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Permanent link to this article: http://www.research.chop.edu/blog/marketplace-report-on-dna-sequencing-features-chop-doc/

Apr 08 2013

Cast Your Vote for Ian Krantz and Nancy Spinner for the Time 100!

Please vote for CHOP scientists Ian Krantz and Nancy Spinner, who are in the running for the Time 100–Time Magazine’s annual list of influential people from around the world.

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Permanent link to this article: http://www.research.chop.edu/blog/cast-your-vote-for-ian-krantz-and-nancy-spinner-for-the-time-100/

Feb 19 2013

Study Finds Link Between Genes and Lifespan

Several gene variants can influence a person’s potential lifespan by either raising the probability of developing a disease or by providing protection from disease, according to new research from The Children’s Hospital of Philadelphia.

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Permanent link to this article: http://www.research.chop.edu/blog/chop-study-finds-link-between-genes-and-lifespan/

Feb 07 2013

The Cornerstone of Personalized Medicine

The idea of “personalized” medicine isn’t just about a one-on-one encounter with a doctor, the use of sophisticated mobile applications, or heightened access to healthcare providers, medical records, and services. Personalized medicine also extends into the depths of who each of us are at our essence — to our individual genetic makeup.

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Permanent link to this article: http://www.research.chop.edu/blog/the-cornerstone-of-personalized-medicine/

Jan 28 2013

Religion and Ethics Newsweekly on Genetic Testing

As promised, here is PBS’s Religion and Ethics Newsweekly’s piece on the work of Drs. Ian D. Krantz and Nancy B. Spinner. Enjoy!

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Permanent link to this article: http://www.research.chop.edu/blog/religion-and-ethics-newsweekly-on-genetic-testing/

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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Permanent link to this article: http://www.research.chop.edu/blog/chop-geneticists-to-be-featured-on-religion-ethics-newsweekly/

Jan 24 2013

Study Shows Neuroblastoma Evolves Rapidly, Limiting Treatment Targets

A recent genomic study of neuroblastoma reinforces the challenges of treating the most aggressive forms of this disease. Contrary to expectations, the researchers found relatively few recurrent gene mutations — mutations that would suggest new targets for neuroblastoma treatment. Instead, the investigators have refocused on how neuroblastoma tumors evolve in response to medicine and other factors.

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Permanent link to this article: http://www.research.chop.edu/blog/study-shows-neuroblastoma-evolves-rapidly-limiting-treatment-targets/

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.

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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.

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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.

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

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