Updates

March 14, 2019
Brexit Could Have Real Effects for UK Rare Disease Patients, Experts Warn

Madeline Collin, a 24-year-old activist with Gaucher disease, worries that patients like her will suffer deeply if Britain leaves the European Union (EU), as ... Read more
March 12, 2019March 12, 2019
Decisional Capacity of Women With Fragile X Surpasses That of Men, Study Says

Women with fragile X syndrome surpass men in their decisional capacity for informed consent about participation in clinical trials, a study says. The findings of ... Read more
March 12, 2019March 11, 2019
Moral Dilemmas Complicate Treatment of Rare Diseases, Says Israeli Bioethicist

With each new advance in medicine comes ethical dilemmas, from fertility treatments and newborn screening, to vaccinations, gene therapies and euthanasia. But rare diseases ... Read more
March 7, 2019March 7, 2019
Current FXTAS Diagnostic Criteria Show Low Accuracy, Study Finds

Given the genetic variability behind the disease, current clinical diagnostic criteria for fragile X-linked tremor/ataxia syndrome do not accurately detect late-onset ataxia (abnormal, uncoordinated ... Read more
March 5, 2019March 5, 2019
NIH Rare Disease Day Highlights Joint Networks Advancing Array of Research

Rare diseases affect about 30 million Americans — roughly the same number as those with type 2 diabetes. Yet only 5 percent of the ... Read more

News

Zynerba Pharmaceuticals Receives U.S. Patent for Cannabidiol Gel ZYN002
March 5, 2019March 5, 2019
Zynerba Pharmaceuticals’ cannabidiol gel ZYN002 has received a U.S. patent for the treatment of ...
News

Understanding of How Females Inherit Traits May Shed Light on Fragile X, Rett Syndromes, Study Says
February 28, 2019February 28, 2019
New understanding of the genetic mechanisms involved in female inheritance and X chromosome silencing ...
News

WODC 2019 Organizers Expect 1,200 to Attend Rare Disease Conference in April
February 26, 2019February 25, 2019
The world’s biggest gathering of rare disease researchers, patient groups, pharmaceutical executives, and government ...
News

Vienna to Host RARE2019 Meeting on Rare Diseases
February 21, 2019February 20, 2019
About 100 scientists, researchers, pharmaceutical executives, and others will converge on Austria’s capital city ...
News

Information, Support May Persuade Parents of FXS Children to Join Trials
February 19, 2019February 19, 2019
Parents of children with intellectual disability, in particular those affected by fragile X syndrome, ...
News

Defective Mitochondria Could Explain Neurological Impairment in Fragile X, Research Shows
February 14, 2019February 14, 2019
Mutations in the FMR1 gene — the underlying cause of fragile X syndrome — result in ...

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Mainstreaming Benefits Girls with Fragile X Outside Classroom, Study Suggests
February 12, 2019February 12, 2019
Students with fragile X who spend more time in regular classrooms are more likely to ...
Patients, Family and Friends to Take Part in Variety of Rare Disease Day Events Worldwide
February 11, 2019
Scores of events are afoot worldwide to mark Feb. 28, Rare Disease Day 2019. The activities ...
Language Use Differs Between Boys with Both Autism and FXS and Autism Alone, Study Shows
February 8, 2019February 8, 2019
FXS Patients’ Social Deficits are Linked to Social Anxiety, Eye-tracking Study Says
February 1, 2019February 1, 2019
Anxiety, Learning and Behavior Issues Top Concerns in Fragile X Syndrome, Survey Shows
January 29, 2019January 29, 2019
Novartis’ Mavoglurant May Improve Visual Attention, Pupil Reactivity in Fragile X, Study Says
January 24, 2019January 24, 2019

Inhibiting HDAC6 Enzyme Has Potential for Treating FRX, Mouse Study Finds
January 22, 2019January 22, 2019
Inhibiting the HDAC6 enzyme with an experimental agent called SW-100 improved memory and lowered ...
Effort Afoot to Expand ‘Early Check’ Newborn Screening for Fragile X in the U.S.
January 15, 2019January 15, 2019
Tetra Discovery and Shionogi Team Up to Further Study BPN14770 for Potential in Fragile X, Other Disorders
January 8, 2019January 8, 2019
FMR1 Mutations Linked to Early Atypical Temperament, Study Shows
January 3, 2019January 3, 2019

Rising Healthcare Costs Strain EU Budgets Even as New Therapies Flourish
December 21, 2018December 20, 2018
Cash-strapped governments across the 28-member European Union are struggling to control runaway healthcare expenditures ...
Cannabidiol Gel ZYN002 Shows Sustained Benefits in Children and Teens with Fragile X, Zynerba Reports
December 18, 2018December 18, 2018
Ability to Form Words, Sentences Linked with Autism Spectrum Disorder Severity in Young Males with Fragile X
December 5, 2018December 5, 2018

News

Mavoglurant Safe, Well-tolerated Long-term in Adolescents and Adults with Fragile X Syndrome, Studies Show
November 27, 2018November 27, 2018
Mavoglurant is safe and well-tolerated in the long-term to treat adolescents and adults who ...
News

World’s Largest Newborn Screening Study to Include Fragile X Syndrome
November 20, 2018November 20, 2018
Fragile X syndrome is among the four rare genetic disorders to be included in ...
News

Exposure to Pesticides Might Increase Severity of Fragile X Spectrum Disorders, Study Finds
November 13, 2018November 13, 2018
The frequency and severity of symptoms associated with fragile X spectrum disorders in the ...
News, Social Clips

Cognitive Function Affects Gait, Motor Function in FXTAS, Study Finds
November 6, 2018November 6, 2018
Lower cognitive function affects gait and functional mobility in those with fragile X-associated tremor/ataxia ...
News

Fragile X Added to Newborn Screening in North Carolina Through New Study
October 30, 2018October 30, 2018
Fragile X syndrome testing will now be available for newborns in North Carolina by ...
News

#NORDSummit – Major Issues on Table for Rare Disease Patients in US as Midterm Elections Approach
October 29, 2018October 29, 2018
With the U.S. midterm elections now less than two weeks away, patient advocacy groups ...

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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