Author Archives: Patricia Inacio PhD

CMT Association, Applied Team Up on Therapy for New Subtype

A new partnership is seeking to identify people with a mutation in the sorbitol dehydrogenase (SORD) gene — the cause of a newly identified type of Charcot-Marie-Tooth disease (CMT) — who may be eligible for clinical trials investigating potential treatments for this recessive subtype. In this collaboration, the Charcot–Marie–Tooth…

Research Alliance to Test CMT1A Oral Therapy in Preclinical Studies

The Charcot-Marie-Tooth Association (CMTA) and Addex Therapeutics are teaming up to investigate a potential oral therapy for Charcot-Marie-Tooth disease type 1A (CMT1A), in rodent models of the disease. Established under the association’s Strategy to Accelerate Research (STAR), the collaboration’s goal is to study the benefits of Addex’s proprietary technology —…

CMT2D Mutation Halts Early Steps of Protein Production

Mutations in the GARS gene — found in people with Charcot-Marie-Tooth disease type 2D (CMT2D) — halt the first steps of protein production, new research shows. Specifically, the mutations cause ribosomes — the factories where proteins are assembled — to stall protein production. Therapies that can overcome this ribosome-pausing…

Grant Will Help Scientist Develop MRI Biomarkers of CMT1A

Scientist Jun Li has won a $246,172 grant to develop new MRI biomarkers to assess disease progression and response to treatment in people with Charcot-Marie-Tooth disease type 1A (CMT1A). The grant, from the National Center for Advancing Translational Sciences of the National Institutes of Health, will fund a project…

New Partnership to Test Promising Therapies for CMT4B1

The CMT Research Foundation has teamed up with AcuraStem and scientist Alessandra Bolino, PhD, to test potential new therapies for Charcot-Marie-Tooth disease type 4B1 (CMT4B1), a severe form of the disease with early onset. CMT4B1 is caused by mutations in the gene MTMR2, which is involved in the…