New genetic clues found in fragile X syndrome
New insight into fragile X syndrome -- the most common cause of inherited intellectual disability -- has been gained by researchers studying the case of a person without the disorder, but with two of its classic symptoms. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - January 16, 2015 Category: Science Source Type: news
New genetic clues found in fragile X syndrome
(Washington University School of Medicine) Scientists at Washington University School of Medicine in St. Louis have gained new insight into fragile X syndrome -- the most common cause of inherited intellectual disability -- by studying the case of a person without the disorder, but with two of its classic symptoms. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - January 16, 2015 Category: Global & Universal Source Type: news
Multiple, short learning sessions strengthen memory formation in fragile X syndrome
(University of California - Irvine) A learning technique that maximizes the brain's ability to make and store memories may help overcome cognitive issues seen in fragile X syndrome, a leading form of intellectual disability, according to University of California Irvine neurobiologists. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - December 9, 2014 Category: Global & Universal Source Type: news
Fragile X Syndrome Therapeutic Pipeline Market by Companies &...
RnRMarketResearch.com adds Fragile X Syndrome Pipeline Review H2 2014 to its store. The report contain 85 pages & provides an overview of the Fragile X Syndrome therapeutic pipeline.(PRWeb December 07, 2014)Read the full story at http://www.prweb.com/releases/2014-ragile-x-syndrome/pipeline-review-h2-market/prweb12375455.htm (Source: PRWeb: Medical Pharmaceuticals)
Source: PRWeb: Medical Pharmaceuticals - December 8, 2014 Category: Pharmaceuticals Source Type: news
Fragile X study offers hope of new autism treatment
People affected by a common inherited form of autism could be helped by a drug that is being tested as a treatment for cancer, according to researchers. Fragile X Syndrome is the most common genetic cause of autism spectrum disorders. It affects around 1 in 4,000 boys and 1 in 6,000 girls. Currently, there is no cure. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - November 27, 2014 Category: Science Source Type: news
New insights that link Fragile X syndrome and autism spectrum disorders
(VIB (the Flanders Institute for Biotechnology)) Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability, as well as the most frequent monogenic cause of autism spectrum disorders. FXS is caused by absence or incorrect production of protein FMRP (Fragile X mental retardation protein). VIB/KU Leuven scientists, in collaboration with Tor Vergata University and VU University of Amsterdam have pinpointed a novel role that FMRP plays during embryonic development of brain cortex. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - November 17, 2014 Category: Global & Universal Source Type: news
Fragile X Syndrome: Orphan designation for molecule
The European Medicines Agency (EMA) has granted "orphan designation" to BMS 204352(1), a molecule developed by French researchers to treat Fragile X Syndrome, a rare genetic disease for which there exists no treatment. Fragile X Syndrome is a genetic disease that causes inherited intellectual disability often associated with autism spectrum disorders as well as with characteristic physical signs. Affecting almost one in 4,000 infants, this is one of the most frequent rare diseases, but there is no existing treatment. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - November 14, 2014 Category: Science Source Type: news
Why are some people with autism hypersensitive to sound?
(University of California - Riverside) The University of California, Riverside has received a grant from the National Institutes of Health to study the mechanisms of auditory hypersensitivity -- an increased sensitivity to sound through a negative emotional response -- in Fragile X syndrome (FXS). The five-year $8.7 million grant is awarded to UC Riverside and the University of Texas Southwestern Medical Center, Dallas. FXS is the most common inherited cause of intellectual disability and the most common cause of autism. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - October 16, 2014 Category: Global & Universal Source Type: news
Former fashion photographer celebrates beauty in human diversity
(American Academy of Pediatrics) Award-winning fashion photographer Rick Guidotti crisscrossed the globe taking photos for renowned clients such as Yves Saint Laurent, Revlon and GQ. Now, he uses his eye for beauty to capture images of children and adults with genetic, physical, cognitive and behavioral differences.Guidotti will share photos he has taken of children with conditions ranging from autism to Fragile X syndrome during a keynote address at the American Academy of Pediatrics National Conference & Exhibition. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - October 6, 2014 Category: Global & Universal Source Type: news
A nucleotide change could initiate fragile X syndrome
(Rockefeller University Press) Researchers reveal how the alteration of a single nucleotide -- the basic building block of DNA -- could initiate fragile X syndrome, the most common inherited form of intellectual disability. (Source: EurekAlert! - Social and Behavioral Science)
Source: EurekAlert! - Social and Behavioral Science - September 1, 2014 Category: Global & Universal Source Type: news
Socialization relative strength in fragile X longitudinal study
(Emory Health Sciences) Standard scores measuring 'adaptive behavior' in boys with fragile X syndrome tend to decline during childhood and adolescence, the largest longitudinal study of the inherited disorder to date has found. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - July 29, 2014 Category: Global & Universal Source Type: news
Study links autistic behaviors to enzyme
(University of California - Riverside) Biomedical scientists at the University of California, Riverside have published a study today that sheds light on the cause of autistic behaviors in Fragile X syndrome (FXS), the most common cause of autism. They found that an enzyme, MMP-9, plays a critical role. Working on mice, the researchers targeted MMP-9 as a potential therapeutic target in FXS and showed that genetic deletion of MMP-9 favorably impacts key aspects of FXS-associated anatomical and behaviors. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - July 23, 2014 Category: Global & Universal Source Type: news
Autism-related protein shown to play vital role in addiction
A gene essential for normal brain development, and previously linked to Autism Spectrum Disorders, also plays a critical role in addiction-related behaviors, researchers report. The team used animal models to show that the fragile X mental retardation protein, or FMRP, plays a critical role in the development of addiction-related behaviors. FMRP is also the protein that is missing in Fragile X Syndrome, the leading single-gene cause of autism and intellectual disability. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - May 9, 2014 Category: Science Source Type: news
Genetics of Female Infertility Due to Anomalies of the Ovary and Mullerian Ducts
Genetic factors are pivotal in reproductive development and subsequent reproductive processes. If disturbed, infertility can occur. In the female, genetic factors affecting the ovary and the uterus are not uncommon causes of infertility. Terminal deletions on the X long arm and X short arm and X chromosomal mosaicism have long been accepted as causes of premature ovarian failure (POF). Responsible genes on the X have not yet elucidated. Attractive candidate genes for POF also exist on autosomes, and in over a dozen genes molecular perturbations are documented in non-syndromic POF. The most common single-gene cause of POF i...
Source: Springer protocols feed by Cell Biology - May 1, 2014 Category: Cytology Source Type: news
Discovery could lead to novel therapies for Fragile X syndrome
Scientists studying the most common form of inherited mental disability -- a genetic disease called 'Fragile X syndrome' -- have uncovered new details about the cellular processes responsible for the condition that could lead to the development of therapies to restore some of the capabilities lost in affected individuals. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - April 17, 2014 Category: Science Source Type: news
