Tag Archive: genetics

Oct 06 2014

Genetic Study Gives Clues to Cognitive Abilities

A large genetic study conducted by experts at The Children’s Hospital of Philadelphia and University of Pennsylvania’s Perelman School of Medicine represents a first step in discerning the overall genetic architecture of cognitive abilities.

Permanent link to this article: http://www.research.chop.edu/blog/genetic-study-gives-clues-cognitive-abilities/

Apr 22 2014

Rare Disease Project Makes Progress, Empowers

In the U.S., a disease is considered rare if it affects fewer than 200,000 people. Many rare diseases have genetic origins, and almost 70 percent of Americans affected by a rare disease are children, according to the National Organization for Rare Disorders (NORD).

Permanent link to this article: http://www.research.chop.edu/blog/rare-disease-project-makes-progress-empowers/

Jan 09 2014

CHOP Genetics Expert Edits Book Examining Genetics and Obesity

A recently published book edited by The Children’s Hospital of Philadelphia’s Struan F.A. Grant, PhD, examines the role genetic variants play in causing or raising the risk of obesity.

Permanent link to this article: http://www.research.chop.edu/blog/chop-genetics-expert-edits-book-examining-genetics-obesity/

Dec 11 2013

CHOP Hematologist and Gene Therapy Researcher Honored

For her pioneering hemophilia and gene therapy research, Children’s Hospital hematologist Katherine A. High, MD, director of the Center for Cellular and Molecular Therapeutics (CCMT), was recently honored with the 2013 E. Donnall Thomas Lecture and Prize at the American Society of Hematology (ASH) Annual Meeting.

Permanent link to this article: http://www.research.chop.edu/blog/chop-hematologist-gene-therapy-researcher-honored/

Oct 15 2013

CHOP Genetics Expert Co-Leads Large New NIH Grant on Psychiatric Illnesses in Patients with Deletion Syndrome

An international collaboration will delve into why patients with chromosome 22q11.2 deletion syndrome have an elevated risk of schizophrenia and other psychiatric illnesses.

Permanent link to this article: http://www.research.chop.edu/blog/chop-genetics-expert-co-leads-large-new-nih-grant-psychiatric-illnesses-patients-deletion-syndrome/

Aug 08 2013

CHOP Researcher Helps Discover a Cause for Abnormal Heart Vessels

A pediatric cardiologist at The Children’s Hospital of Philadelphia is a first author of new research identifying a mutation that disrupts the formation of veins bringing blood to the heart very early in development.

Permanent link to this article: http://www.research.chop.edu/blog/chop-researcher-helps-discover-a-cause-for-abnormal-heart-vessels/

Jun 27 2013

CHOP Scientist Collaborates in Key Gene Findings in Pediatric Heart Disease

A physician-scientist from The Children’s Hospital of Philadelphia, Elizabeth Goldmuntz, MD, is one of the senior leaders of a research consortium reporting important gene changes that may help explain why children are born with heart defects.

Permanent link to this article: http://www.research.chop.edu/blog/chop-scientist-collaborates-in-key-gene-findings-in-pediatric-heart-disease/

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.

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.

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

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