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UrduThere is currently no cure for the rare neurodegenerative disorder multiple system atrophy (MSA), and its rarity has made it difficult to understand how the disease progresses. Now a research team has created a successful mouse model of aggressive cerebellar-type…
Tag: rare disease research
Aerobic Exercise May Help More than Balance Training to Hold Off Symptoms of Cerebellar Ataxia
Currently, no medications exist to combat spinocerebellar ataxias, debilitating neurodegenerative diseases that cause loss of balance and coordination. Physicians recommend balance training to improve symptoms, but a new study suggests that rigorous aerobic exercise may provide greater benefit for adults…
National Organization for Rare Disorders Designates The Mount Sinai Hospital as a Center of Excellence
The National Organization for Rare Disorders (NORD) has designated the Division of Medical Genetics and Genomics at The Mount Sinai Hospital as a Rare Disease Center of Excellence.
Innovative Gene Therapy ‘Reprograms’ Cells To Reverse Neurological Deficiencies
A new method of gene therapy is helping children born with a rare genetic disorder called AADC deficiency that causes severe physical and developmental disabilities. The study was led by researchers at The Ohio State University Wexner Medical Center and The Ohio State University College of Medicine.
Positive Data Reported in a Multinational Clinical Trial Investigating New Treatment of Niemann-Pick disease Type C
A multinational clinical trial of for the treatment of Niemann-Pick disease Type C (NPC) demonstrated a statistically significant and clinically meaningful improvement in symptoms, functioning, and quality of life in both primary and topline secondary endpoints for both pediatric and adult patients with NPC.
New Collection of Rett Syndrome Stem Cells Available from Coriell Institute for Medical Research
The Coriell Institute for Medical Research has added a new collection of stem cells to its biobank offerings. The new collection is a result of a collaboration between Coriell and the Rett Syndrome Research Trust (RSRT) and consists of 10 lines of human induced pluripotent stem cells created from blood donated by individuals with Rett syndrome.
Seaver Autism Center For Research and Treatment at Mount Sinai Launches First Drug Trial for ADNP Syndrome
Researchers at the Seaver Autism Center for Research and Treatment at Mount Sinai have started recruiting participants for a new clinical trial to evaluate the safety, tolerability, and efficacy of a low dose of ketamine in children diagnosed with ADNP syndrome (also known as Helsmoortel-VanDerAa syndrome), a rare neurodevelopmental disorder caused by mutations in the activity dependent neuroprotective protein (ADNP) gene.