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.
Category Archive: Genetics
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.
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!
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.
A recent genomic study of neuroblastoma reinforces the challenges of treating the most aggressive forms of this disease. Contrary to expectations, the researchers found relatively few recurrent gene mutations — mutations that would suggest new targets for neuroblastoma treatment. Instead, the investigators have refocused on how neuroblastoma tumors evolve in response to medicine and other factors.
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.
The Children’s Hospital of Philadelphia and China-based BGI-Shenzhen are now collaborating on research into next-generation sequencing to analyze pediatric brain tumors.
Canavan disease is a rare inherited neurological disorder with devastating effect. The lack of a specific enzyme, called aspartoacylase, causes the body’s central nervous system to break down. The disease is usually fatal before a child reaches the teenage years.
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.
The holiday season is once again upon us! While it’s a time for family and friends to gather, indulge in traditions, and celebrate this season of giving, it’s also hard to believe another year has passed.
In another “I can’t believe it’s already here” tradition, the new edition of the Children’s Hospital of Philadelphia Research Institute’s annual report is now available! The 2012 Research Annual Report details some of the many discoveries and accomplishments made at the Research Institute during fiscal year 2012. The report is available both as a PDF and as an interactive Web site.