CHOP Research Institute

Center for Applied Genomics

Today's Research Becomes Tomorrows Cure

Three scientists at Children’s Hospital of Philadelphia who identified and studied a genetic disease have been recognized by having their names attached to the disorder.
Article by: Science Daily; March 27, 2017

Medgenics focuses on genomic medicine with a partnership with Center for Applied Genomics at The Children's Hospital of Philadelphia (CHOP).
Article by: SeekingAlpha; October 27, 2016

Researchers have discovered a gene region that raises the risk a child will have a middle ear infection, known to doctors as acute otitis media (AOM) -- and known to parents as one reason for a screaming, unhappy preschooler. The finding may offer an early clue to helping doctors develop more effective treatments to prevent one of the most common childhood illnesses.
Article by: ScienceDaily; October 06, 2016

A core team of proteins involved in learning may play an important role in autism, according to a new study.
Article by: Spectrum; September 29, 2016

An international team of researchers who discovered a new gene disorder that causes severe childhood epilepsy leveraged that finding to reduce seizures in two children. The collaborators’ case report reflects the potential of precision medicine -- applying basic science knowledge to individualize treatment to a patient’s unique genetic profile.
Article by: ScienceDaily; September 20, 2016

Meeting Features Academic, Industry Leaders in Applying New Gene Research Tools to Health and Medicine.
Article by: Newswise; September 07, 2016

Analyzing whole-genome sequences, researchers found that any given individual carries more than 5,000 variants that delete, duplicate, invert, insert or otherwise scramble segments of DNA. Traditional methods miss a large proportion of these variants, the researchers say.
Article by: Spectrum; April 14, 2016

A mutation to the TBCK gene causes the syndrome, which causes moderate to severe developmental delays, low muscle tone and seizures.
Article by: UPI Health News; April 04, 2016

Researchers at The Children's Hospital of Philadelphia (CHOP) say they identified a gene that looks like it plays a significant role in raising a person's risk of having more severe subtypes of autism that co-occur with other genetic diseases, such as the chromosomal disorder 22q11.2 deletion syndrome. Variations in this gene, RANBP1, may disrupt brain signaling in different neuropsychiatric conditions, a finding that could open new research opportunities for treatment for multiple neurological diseases, according to the scientists.
Article by: Genetic Engineering and Biotechnology News; January 20, 2016

The results from this study enable us to better understand the genetic component of these diseases and how they are genetically related to each other, thereby explaining why different autoimmune disorders often run in the same family.
Article by: ScienceLine; Novermber 13, 2015