Diagnosing Rett Syndrome

Laura Mamounas, PhD, Program Director at the National Institute of Neurological Disorder and Stroke (NINDS) at the NIH in Bethesda, discusses the challenges of diagnosing Rett syndrome.     At the time of diagnosis, the average age of patients with typical...

A New Test for Patient-Reporting of Mastocytosis Control

In patients with mastocytosis, mast cells expand and accumulate throughout the skin, bone marrow, and internal organs, such as the gastrointestinal tract.1 The uncontrolled growth of these abnormal mast cells results in skin lesions with diffuse thickening in its...