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September 10, 2019September 10, 2019

Taurine Supplementation Improves Testes Function in Fragile X Mice, Early Study Suggests

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Supplementation with taurine — a natural amino acid that plays an important role in the brain, heart, and muscles — can partially correct the production of two proteins found ... Read more

September 5, 2019September 5, 2019

Antipsychotics Most Common Prescription for Aggressive Behaviors in Fragile X Patients, Study Reveals

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Treatment for irritability, aggression, agitation and self-injury (IAAS) behaviors in people with fragile X syndrome most often includes antipsychotics, a new has study found. The research, “Pharmacologic Interventions for ... Read more

September 4, 2019September 4, 2019

Profile of Premutation Carriers Reflects Increased Risk of Mental Health Disorders, Study Says

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The clinical profile of FMR1 premutation carriers — individuals who have 55 to 200 CGG repeats in their fragile X mental retardation 1 gene sequence instead of the normal ... Read more

September 2, 2019August 30, 2019

‘Disorder’ Film Festival Offers Look at Siblings Touched by Rare Diseases

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Rare diseases deeply affect not only the children who experience them, but also their healthy brothers and sisters, as their parents can attest. Two entries in November’s “Disorder: ... Read more

August 29, 2019August 28, 2019

At NY Genome Center, Legal Expert Presents Ethical Dilemmas in Gene Editing

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Developing gene therapies for rare diseases is one thing. Creating gene-edited “designer babies” is quite another. German legal expert Timo Minssen outlined the potentially explosive ethical landmines surrounding such ... Read more

August 27, 2019August 27, 2019

Revised Scales Better – But Not Enough – for Diagnosing Autism in Fragile X, Study Finds

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Researchers adapted two scales commonly used to screen for autism spectrum disorder (ASD) — the social communication questionnaire (SCQ) and the social responsiveness scale (SRS-2) — with the aim ... Read more

August 22, 2019August 22, 2019

Children with FXS Have Difficulty Fixing Visual Attention, Study Finds

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Young children with fragile X syndrome have trouble fixing their attention in a visual clue compared to typically developing children, a study has found. Researchers believe problems in a cognitive ... Read more

August 20, 2019August 20, 2019

Adequate Preventive Care for Young Patients Linked to Health, Demographics, Study Finds

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The proportion of young patients with fragile X syndrome who meet basic recommendations for preventive care varies depending on their health condition and demographics, according to a recent study. ... Read more

August 20, 2019

Nebraska’s Neena Nizar Seeks Cure for Jansen’s, One of World’s Rarest Diseases

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Imagine living your whole life with a painful disease so rare that only 25 others worldwide have what you have. And that you’re one of just six such people ... Read more

August 13, 2019August 13, 2019

Studies to Test Diabetes Treatment, Metformin, on Fragile X Patients Now Enrolling in US and Canada

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An upcoming clinical trial will examine if a diabetes medicine has behavioral and cognitive effects on children and young adults with fragile X syndrome. Treating the symptoms of fragile ... Read more

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