Tag Archive: rare disease

Feb 28 2018

Better Biobanking a Best Bet for Rare Disease Research

Editor’s Note: Families facing a rare disease diagnosis often do not know where to turn first in their search for the most advanced treatments and potentially a cure for their children. Only 5 percent of rare diseases have a treatment approved by the Food and Drug Administration, according to the National Organization for Rare Disorders. This is due in part to the lack of high quality biospecimens for research.

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Dec 15 2017

Brain Plasticity, Hemophilia B Gene Therapy, Stem Cells and SCD, Medical Cannabis for Autism, PA Rare Disease Advisory Council

The year 2017 might be coming to a close, but research continues to ramp up at Children’s Hospital of Philadelphia, with exciting developments in the fields of brain science, hemophilia, gene therapy, and more. In this week’s roundup of headlines, we take a look at remarkable reports from CHOP and Penn Medicine about the brain’s ability to reorganize itself after limb amputation, the first U.S. effort to observe the use of medical cannabis for children with autism, and exciting innovations to improve sickle cell disease treatment presented at the 59th American Society of Hematology Annual Meeting and Exposition. Read on to discover more about these brilliant breakthroughs. 

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Sep 29 2017

Researchers Win Grants to Explore New Drug Targets for Childhood Cancers

National Childhood Cancer Awareness Month is coming to a close, but new research endeavors are continuing the momentum and driving toward better treatment options.

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May 9 2017

Scientific Symposium Emphasizes Future Directions of Research Institute

symposiumSynapses were firing throughout the conference room in the Colket Translational Research Building as attendees at the 2017 Research Institute Scientific Symposium held May 2 learned about their colleagues’ intriguing research endeavors.

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Mar 13 2015

Study of Rare Disease Reveals Gene Crucial to Immune Defense

rare diseaseResearchers 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.

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Mar 2 2015

Device Invented by CHOP Expert “Flips” Rare Disease Survival

LWWUS_BPO_jpo-11428 1..15A device created by a CHOP expert is changing the lives of children with a debilitating rare disease, offering hope of drastically improved outcomes.

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Oct 8 2014

Experts’ Research Leads to Rare Disease Clinical Trial

rare diseaseAs rare pediatric diseases go, Fibrodysplasia Ossificans Progressiva (FOP) is about as rare and debilitating as they come, affecting roughly one in two million people around the world.

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May 8 2014

Rare Disease Study Could Broaden Tumor Development Understanding

tumor developmentDr. Kalish recently received an award from the Alex’s Lemonade Stand Foundation to investigate tumor development associated with the rare childhood overgrowth disease Beckwith-Wiedemann Syndrome.

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Apr 22 2014

Rare Disease Project Makes Progress, Empowers

rare diseaseIn 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).

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