Tag Archive: rare disease

Mar 13 2015

Study of Rare Disease Reveals Gene Crucial to Immune Defense

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/

Mar 02 2015

Device Invented by CHOP Expert “Flips” Rare Disease Survival

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

Permanent link to this article: http://www.research.chop.edu/blog/device-invented-by-chop-expert-flips-rare-disease-survival/

Oct 08 2014

Experts’ Research Leads to Rare Disease Clinical Trial

As 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.

Permanent link to this article: http://www.research.chop.edu/blog/experts-research-leads-rare-disease-clinical-trial/

May 08 2014

Rare Disease Study Could Broaden Tumor Development Understanding

Dr. 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.

Permanent link to this article: http://www.research.chop.edu/blog/rare-disease-study-broaden-tumor-development-understanding/

Apr 22 2014

Rare Disease Project Makes Progress, Empowers

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/