Researchers at the Perelman School of Medicine at the University of Pennsylvania have discovered new disrupted genes and an unexpected molecular pattern in Fragile X Syndrome (FXS), a genetic disorder that causes the most common form of intellectual disability. The researchers showed that editing the length of the unexpected molecular…

New research by Massachusetts General Hospital (MGH) has identified a potential method for treating Fragile X syndrome, a leading cause of autism spectrum disorders that is characterized by an inherited repeat of certain nucleotides within the DNA sequence of the FMR1 gene. The researchers found that stimulating cells’ DNA repair…

Mental healthcare company Wellbeing Digital Sciences and its subsidiary KGK Science announced today it received an exemption under Canada’s Controlled Drugs and Substances Act to begin with its partner Nova Mentis Life Science. The company says this is the first-ever Phase IIa clinical trial assessing the efficacy of repetitive, oral…

Scientists in Canada have discovered a treatment than can temporarily reverse symptoms of Fragile X syndrome in a mouse model of the inherited condition. Fragile X syndrome is a genetic condition that mostly affects men and boys, due to its X-linked, dominant inheritance pattern. It is caused by loss of…

Novel findings on how fragile X-associated tremor/ataxia syndrome (FXTAS) first develops may point to new ways to study the disease and possibly potential therapies for it. FXTAS, caused by “premutation” expansions of the FMR1 gene, to date has no approved treatments. The study was published in the Journal of Neurodevelopmental Disorders. The work was led…

Rutgers researchers have linked the genetic disorders Fragile X and SHANK3 deletion syndrome to specific walking patterns by examining patients’ microscopic movements. The researchers used special motion-sensor enabled sneakers and a simple walking task to measure micro-fluctuations in biorhythmic motions. According to their new study in the journal Scientific Reports, the approach detects…

For this issue of Inside Precision Medicine focused on gender medicine, I was asked to write a piece about overlooked diseases that affect women. This list is long and includes, among others, endometriosis, polycystic ovary syndrome, fibromyalgia, chronic fatigue syndrome, irritable bowel syndrome, and several autoimmune disorders like lupus and…

Ovid Therapeutics has announced it will partner with U.K.-based artificial intelligence (AI) biotech Healx to develop and bring better treatments for Fragile X syndrome to the clinic. Ovid is based in New York and specializes in rare neurological disease treatments. It has several in the pipeline and has already had…

Results from a Phase II study, run by Rush University Medical Center and U.S. biotech Tetra Therapeutics, show promising results for an experimental drug designed to treat cognitive symptoms in patients with Fragile X syndrome. Fragile X is the most common genetic cause of autism and intellectual disability. Individuals with…

Scientists report that a pharmacological strategy can alleviate multiple behavioral and cellular deficiencies in a mouse model of fragile X syndrome (FXS), the most common inherited form of intellectual disability and a major single-gene cause of autism spectrum disorders. The study (“Isoform-selective phosphoinositide 3-kinase inhibition ameliorates a broad range of fragile…

Scientists at the National Institutes of Health (NIH) have developed a set of assays that they say are robust, inexpensive, and suitable for initial patient screening of patients with Fragile X-related disorders. The specifics of new diagnostic tests for Fragile X syndrome, the most common heritable cause of intellectual disability and…

Harmony Biosciences announced it will acquire Zynerba Pharmaceuticals, a pioneer in transdermal cannabinoid therapies for orphan neuropsychiatric disorders, including Fragile X syndrome (FXS). Harmony will pay up to $200M. “This acquisition affords us the opportunity to advance the development and delivery of a potentially transformative treatment for the symptoms of…

Research carried out by the Genomics England Research Consortium supports the implementation of whole genome sequencing (WGS) for diagnosing neurological repeat expansion disorders. The study, which was published in The Lancet Neurology, showed that WGS was highly accurate at detecting repeat expansions compared with standard tests and even picked up…

A large study led by the University College London and Queen Mary University of London shows that repeat expansion disorders are a lot more common than previously thought meaning that many people with these conditions probably evade diagnosis. As reported in the journal Nature Medicine, lead author Arianna Tucci, PhD,…

New research by the EveryLife Foundation for Rare Diseases, in one of the first studies of healthcare utilization and costs for patients with a rare disease, has found that early rare disease diagnosis could save as much as $500,000 per patient. The report, “The Cost of Delayed Diagnosis in Rare…