Tag Archive: genetics

Apr 25 2013

Genetic Study Offers Clues About Rare Liver Disease Biliary Atresia

A new genetic study may shed light on the causes of the rare childhood disease biliary atresia. The leading cause of liver transplantation in children, biliary atresia (BA) is a rare, life-threatening condition in which the ducts that carry bile from the liver to the gallbladder become blocked. Children’s Hospital’s Randy Matthews, MD, PhD, led …

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Permanent link to this article: http://www.research.chop.edu/blog/genetic-study-offers-clues-about-rare-liver-disease-biliary-atresia/

Apr 23 2013

Genetic Study Suggests Fine-Tuning Drugs for Pediatric Brain Tumors

A new genetic study offers glimpses into how scientists might use gene-sequencing data to customize pediatric patients’ cancer treatments.

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Permanent link to this article: http://www.research.chop.edu/blog/genetic-study-suggests-fine-tuning-drugs-for-pediatric-brain-tumors/

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 26 2013

Using Next-Generation Sequencing to Understand and Treat Disease

How 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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Permanent link to this article: http://www.research.chop.edu/blog/using-next-generation-sequencing-to-understand-and-treat-disease/

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 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/

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.

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