CHOP Research Institute

Center for Applied Genomics

Today's Research Becomes Tomorrows Cure

Aevi Genomic Medicine reports a trial investigating a personalized drug for attention deficit hyperactivity disorder.
Article by: GenomeWeb; April 21, 2017

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