by CheckRare Staff | Dec 21, 2023
Project FIND-OUT enables the rapid detection of rare genetic neurodevelopmental disorders (RGND) in babies aged 3-12 months who present symptoms. Image Source: Pixabay The goal of Project FIND-OUT is to offer whole genome sequencing (WGS) to babies who...
by CheckRare Staff | Dec 20, 2023
Alpha-mannosidosis is a rare genetic disorder characterized by a deficiency of the enzyme alpha-D-mannosidase. Alpha-mannosidosis is best thought of as a continuum of disease that is generally broken down into three forms: a mild, slowly progressive form (type 1); a...
by CheckRare Staff | Dec 19, 2023
Dr. Tuan Vu, of the University of South Florida, explains the evolving treatments for advances managing patients with myasthenia gravis Transcription: My name is Tuan Vu. I’m a professor of neurology at the University of South Florida in...
by CheckRare Staff | Dec 18, 2023
Rare diseases present a significant challenge in the field of medicine. Due to their limited understanding, diagnosing and treating these conditions can be a daunting task for healthcare professionals. However, recent advancements in artificial intelligence (AI) and...
by CheckRare Staff | Dec 15, 2023
Robert J. Pignolo, MD, Professor at Mayo Clinic, Rochester, MN, discusses fibrodysplasia ossificans progressiva (FOP), a rare genetic disorder characterized by the organization of heterotopic hard tissues within the soft tissues, such as ligaments, tendons, and...
