Category Archive: Center for Applied Genomics
Researchers from the Center for Applied Genomics at The Children’s Hospital of Philadelphia investigating a serious, rare disease called common variable immunodeficiency have discovered a gene linked to immune defense.
Permanent link to this article: http://www.research.chop.edu/blog/study-of-rare-disease-reveals-gene-crucial-to-immune-defense/
Scientists have identified four new genes associated with the severe food allergy eosinophilic esophagitis (EoE).
Permanent link to this article: http://www.research.chop.edu/blog/genetic-clues-found-food-allergy-eosinophilic-esophagitis/
The Precision Medicine Initiative, which President Obama first announced in his 2015 State of the Union speech, calls for new funding to build a national infrastructure to help sophisticated biomedical data flow from health clinics to DNA sequencing labs and back again as innovative treatments.
Permanent link to this article: http://www.research.chop.edu/blog/chop-invited-president-obamas-precision-medicine-announcement/
An international team of gene experts has identified a mutation that causes aplastic anemia, a serious blood disorder in which the bone marrow fails to produce normal amounts of blood cells.
Permanent link to this article: http://www.research.chop.edu/blog/international-team-finds-blood-disorder-mutation/
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/
Researchers at The Children’s Hospital of Philadelphia are investigating why some of us seem to need more sleep than others.
Permanent link to this article: http://www.research.chop.edu/blog/gene-mutation-helps-explain-body-clock-set/
In the first genome-wide analysis of postsurgical pain in children, pediatric researchers identified variations in genes that affect a child’s need for pain-control drugs.
Permanent link to this article: http://www.research.chop.edu/blog/chop-researchers-discover-postsurgical-pain-gene-variants/
After analyzing the DNA from thousands of patients, investigators from Children’s Hospital have uncovered several gene networks that may play important roles in autism.
Permanent link to this article: http://www.research.chop.edu/blog/autism-gene-networks-offer-treatment-targets/
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/
Two recent studies expand the list of genes associated with body fat and body mass index (BMI), and their connection to heart disease, high blood pressure, and diabetes.
Permanent link to this article: http://www.research.chop.edu/blog/studies-find-genes-linked-bmi-cardiovascular-health/