Updates

September 19, 2019September 19, 2019
Signaling Cascade Discovered in Fruit Flies May Be Promising Target for FXS Therapy

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 ... Read more
September 17, 2019September 17, 2019
AGG Triplets in FMR1 Linked to Number of CGG Repeats, Consanguinity, Study Finds

The presence of AGG triplets in the FMR1 gene sequence may be linked to the number of CGG repeats — the genetic cause underlying ... Read more
September 10, 2019September 10, 2019
Taurine Supplementation Improves Testes Function in Fragile X Mice, Early Study Suggests

Supplementation with taurine — a natural amino acid that plays an important role in the brain, heart, and muscles — can partially correct the ... Read more
September 5, 2019September 5, 2019
Antipsychotics Most Common Prescription for Aggressive Behaviors in Fragile X Patients, Study Reveals

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. ... Read more
September 4, 2019September 4, 2019
Profile of Premutation Carriers Reflects Increased Risk of Mental Health Disorders, Study Says

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

News

‘Disorder’ Film Festival Offers Look at Siblings Touched by Rare Diseases
September 2, 2019August 30, 2019
Rare diseases deeply affect not only the children who experience them, but also their ...
News

At NY Genome Center, Legal Expert Presents Ethical Dilemmas in Gene Editing
August 29, 2019August 28, 2019
Developing gene therapies for rare diseases is one thing. Creating gene-edited “designer babies” is ...
News

Revised Scales Better – But Not Enough – for Diagnosing Autism in Fragile X, Study Finds
August 27, 2019August 27, 2019
Researchers adapted two scales commonly used to screen for autism spectrum disorder (ASD) — ...
News

Children with FXS Have Difficulty Fixing Visual Attention, Study Finds
August 22, 2019August 22, 2019
Young children with fragile X syndrome have trouble fixing their attention in a visual clue ...
News

Adequate Preventive Care for Young Patients Linked to Health, Demographics, Study Finds
August 20, 2019August 20, 2019
The proportion of young patients with fragile X syndrome who meet basic recommendations for ...
News

Nebraska’s Neena Nizar Seeks Cure for Jansen’s, One of World’s Rarest Diseases
August 20, 2019
Imagine living your whole life with a painful disease so rare that only 25 ...

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Studies to Test Diabetes Treatment, Metformin, on Fragile X Patients Now Enrolling in US and Canada
August 13, 2019August 13, 2019
An upcoming clinical trial will examine if a diabetes medicine has behavioral and cognitive ...
Zynerba’s Cannabidiol Gel Eases Anxiety and Other Behaviors in Youth with Fragile X, Trial Shows
August 8, 2019August 8, 2019
Zynerba‘s Zygel (ZYN002), a cannabidiol gel placed on the skin, was well-tolerated and led ...
Deficits in Language Processing Seen in FMR1 Premutation Carriers
August 6, 2019August 6, 2019
Rare Disease Groups Seek Public Support to Renew Newborn Screening Act in Senate
August 1, 2019
Oklahoma Ranks Lowest on Programs Key to Rare Diseases on NORD’s 2019 State Report Card
August 1, 2019
FMRP Protein Key in Nerve Cell Production From Stem Cells After Birth, Study Suggests
July 30, 2019July 30, 2019

Posture Impairment May be Early Sign of FXTAS in Premutation Carriers
July 25, 2019July 25, 2019
Posture impairment in young people carrying mutations associated with fragile X-associated tremor/ataxia syndrome may ...
Unusual Behaviors of Fragile X Stop with OV101 Treatment, Study in Mouse Model Reports
July 23, 2019July 23, 2019
European Initiative Targets Diagnosis, Treatment of Rare Diseases
July 18, 2019
Social Avoidance in Infancy Predicts Autism Severity in Boys with Fragile X Syndrome, Study Says
July 16, 2019July 16, 2019

Report: Hummingbird Sign Links FXTAS, Progressive Supranuclear Palsy
July 11, 2019July 11, 2019
Midbrain atrophy, commonly referred to as the hummingbird or penguin sign, can be a manifestation ...
Alzheimer’s Therapy, Donepezil, Seen to Lessen Arousal of Cognitive Brain Area in Fragile X Patients in Study
July 9, 2019July 9, 2019
World’s First Alport Stamp Is Macedonian Mom’s Latest Win for Rare Disease Patients
July 5, 2019July 4, 2019

News

Hyper-Excited Neurons Disrupt Perception in Fragile X Syndrome, Fruit Fly Study Suggests
July 2, 2019July 2, 2019
Mutations in the FMR1 gene — the underlying cause of fragile X syndrome — reduce ...
News

Restoring FMR1 Activity and Protein Production in Cells May Be Possible, Early Study Says
June 27, 2019June 27, 2019
Restoring activity to the FMR1 gene — which is silenced in fragile X— using ...
News

NORD Honors Industry, Patient Advocates at Rare Impact Awards Gala
June 25, 2019
A violinist with vasculitis, two Texas politicians and a pharmaceutical company whose marijuana-derived therapy ...
News

Eurordis Unveils Integrated-care Initiative for Rare Disease Patients
June 20, 2019
Europe’s umbrella organization for 800 rare disease associations has developed a sweeping initiative to ...
News

Long Noncoding RNAs May Be New Target for Diagnosis, Treatment of Fragile X Spectrum Disorders
June 20, 2019June 20, 2019
Long noncoding RNAs (lncRNAs) — long RNA molecules that do not provide instructions to ...
News

Social Avoidance Behaviors Emerge in Infancy, Increase During Childhood, Study Finds
June 18, 2019June 18, 2019
Social avoidance, a common behavior among boys with fragile X syndrome, emerges during infancy, ...

March 6, 2018March 6, 2018

Rapamycin Treatment Failed to Improve Fragile X Behavioral Symptoms in Mouse Study

News

An older existing medication that targets a pathway thought to be involved in fragile X syndrome failed to reverse any behavioral characteristics in mouse models of the disease, and was found to further compromise social skills in the mice. ... Read more

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