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September 19, 2019September 19, 2019

Signaling Cascade Discovered in Fruit Flies May Be Promising Target for FXS Therapy

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Scientists have discovered a signaling cascade in fruit flies that may be a promising therapeutic target for treating fragile X syndrome in humans. The study with that finding, “Wnd/DLK Is ... Read more

September 17, 2019September 17, 2019

AGG Triplets in FMR1 Linked to Number of CGG Repeats, Consanguinity, Study Finds

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The presence of AGG triplets in the FMR1 gene sequence may be linked to the number of CGG repeats — the genetic cause underlying fragile X syndrome — and ... Read more

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

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