Understanding X-Linked Retinoschisis (XLRS)

David G. Birch, PhD, Chief Scientific and Executive Officer and Director of the Rose-Silverthorne Retinal Degenerations Laboratory, Retina Foundation of the Southwest discusses X-Linked Retinoschisis (XLRS). X-linked retinoschisis (XLRS) is an inherited early onset...

Rett Syndrome: Burden of Disease Study

Newron Pharmaceuticals is sponsoring a study to evaluate the burden of disease experienced by patients with Rett syndrome and their families. The announcement was made during the international 2016 Rettsyndrome.org Research Symposium, held in Itasca, Illinois, USA,...

Lupus Overview

Lupus erythematosus is a name given to a collection of autoimmune diseases in which the human immune system becomes hyperactive and attacks healthy tissues.[1] Symptoms of these diseases can affect many different body systems, including joints, skin, kidneys, blood...

Understanding Fragile X

This educational video is produced by Fragile X Association and covers symptoms, diagnosis, and treatments of this rare...

Biomarkers for Type 1 Gaucher Disease | Video

The use of biomarkers can provide valuable insight into the molecular pathogenesis of lysosomal storage diseases such as Gaucher disease and Fabry disease. Dr. Pramod Mistry discusses biomarkers as they pertain to patients with type 1 Gaucher disease. In Gaucher...

Schnitzler syndrome: What you need to know – Mayo Clinic

Discussion of  Schnitzler Syndrome – Video Schnitzler syndrome is a rare disease characterized by a chronic urticarial rash that resists most types of standard therapy. Other symptoms may include fever; bone and joint pain; muscle aches; enlarged lymph nodes,...
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