Penn study on fragile X syndrome uses fruitfly's point of view to identify new treatments
(University of Pennsylvania School of Medicine) The hormone insulin -- usually associated with diabetes -- is involved in the daily activity patterns and cognitive deficits in the fruitfly model of FXS. Results reveal a metabolic pathway that can be targeted by new and already approved drugs to treat fragile X patients. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - April 26, 2016 Category: Global & Universal Source Type: news
Joseph Horrigan Joins AMO Pharma as Chief Medical Officer
Company further expands leadership team with new VP of Clinical Operations and Head of Pharmaceutical Science and Manufacturing
LONDON and PHILADELPHIA, April 18, 2016 -- (Healthcare Sales & Marketing Network) -- AMO Pharma Limited ("AMO Pharma&qu... Biopharmaceuticals, PersonnelAMO Pharma, fragile X syndrome, myotonic dystrophy (Source: HSMN NewsFeed)
Source: HSMN NewsFeed - April 18, 2016 Category: Pharmaceuticals Source Type: news
Fragile X research
Researchers have new findings on fragile X, an autism-linked genetic disorder. Fragile X Syndrome (FXS) is an inherited cause of intellectual disability, especially among boys. It results in a spectrum of intellectual disabilities ranging from mild to severe, as well as physical characteristics, such as an elongated face, large or protruding ears, and large testes. Accompanying behavioral characteristics include stereotypic movements, such as hand-flapping, and social anxiety. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - April 2, 2016 Category: Science Source Type: news
UH pharmacology student to present research on Fragile X April 3
(University of Houston) Luis Martinez, a pharmacology doctoral candidate at the University of Houston College of Pharmacy, has earned a spot to present his research on Fragile X Syndrome (FXS) at the 2016 Experimental Biology Meeting April 2-6 in San Diego. Working in the lab of associate professor Maria V. Tejada-Simon, he will present their latest findings on the research into this autism-linked genetic disorder. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - April 1, 2016 Category: Global & Universal Source Type: news
What Types of Hand Stereotypies are Associated with Rett Syndrome?
Discussion
Lady MacBeth and patients with Rett Syndrome (RS) are obviously not alike other than in making similar hand motions. In Shakespeare’s MacBeth (5.1.25-30), Lady MacBeth was driven into madness because of her murderous guilt and tries to wash the blood off her hands as she sleepwalks.
Doctor. What is it she does now? Look, how she rubs/ her hands.
Gentlewoman. It is an accustomed action with her, to seem thus/ washing her hands. I have known her continue in this/ a quarter of an hour.
In 1954, Dr. Andreas Rett observed 2 girls who were also making repetitive handwashing motions and later published a cas...
Source: PediatricEducation.org - January 11, 2016 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news
Aggression in fragile X syndrome - Wheeler AC, Raspa M, Bishop E, Bailey DB.
BACKGROUND: Individuals with fragile X syndrome (FXS), especially men, have long been described as presenting with significant behavioural challenges. Despite this known aspect of the phenotype, there has been little research exploring the prevalence, freq... (Source: SafetyLit: All (Unduplicated))
Source: SafetyLit: All (Unduplicated) - December 11, 2015 Category: Global & Universal Tags: Ergonomics, Human Factors, Anthropometrics, Physiology Source Type: news
Autism: From Behavior to Biology
Co-authored by John Slattery, B.A., Clinical Trials Program Manager at Arkansas Children's Hospital Research Institute, Little Rock AR and Stephen G. Kahler, M.D., Department of Genetics, Arkansas Children's Hospital, Little Rock AR Autism is estimated to affect one in 68 children in the United States -- almost 2% of our population. Autism is usually a lifelong disorder that starts in early childhood and continues into adult life. It affects the whole family, caretakers, the educational and medical systems, and the community at large. Autism is diagnosed by the behavioral abnormalities that define it, including difficu...
Source: Healthy Living - The Huffington Post - July 27, 2015 Category: Consumer Health News Source Type: news
Fragile X proteins involved in proper neuron development
(University of Wisconsin-Madison) Fragile X syndrome is the most common inherited intellectual disability and the greatest single genetic contributor to autism. Unlocking the mechanisms behind fragile X could make important revelations about the brain. In a new study published June 4 in the journal Cell Reports, researchers from the University of Wisconsin-Madison Waisman Center and Department of Neuroscience show that two proteins implicated in fragile X play a crucial role in the proper development of neurons in mice. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - June 10, 2015 Category: Global & Universal Source Type: news
Cancer drugs may hold key to treating Down syndrome and other brain disorders
(University of Michigan) A class of FDA-approved cancer drugs may be able to prevent problems with brain cell development associated with disorders including Down syndrome and Fragile X syndrome, researchers at the University of Michigan Life Sciences Institute have found. (Source: EurekAlert! - Biology)
Source: EurekAlert! - Biology - May 19, 2015 Category: Biology Source Type: news
How are we warm-blooded? A picture of CRISPR/Cas and fragile X advance
(Cell Press) Three recent Cell Press studies are highlighted: Scientists generate a 3-D 'crystal structure' of the CRISPR/Cas system (Molecular Cell); a molecular explanation for why veins and arteries are close together in mammals (Developmental Cell); and a new therapeutic approach to fragile X syndrome (Cell Reports). (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - April 27, 2015 Category: Global & Universal Source Type: news
Discovery may open door for treating fragile X carriers
Fragile X syndrome, an inherited cause of autism and intellectual disability, can have consequences even for carriers of the disorder who don't have full-blown symptoms. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - April 24, 2015 Category: Science Source Type: news
Discovery may open door for treating fragile X carriers
(Washington University School of Medicine) Fragile X syndrome, an inherited cause of autism and intellectual disability, can have consequences even for carriers of the disorder who don't have full-blown symptoms. Researchers at Washington University School of Medicine in St. Louis have identified a potential target for treatments for carriers of the disorder. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - April 24, 2015 Category: Global & Universal Source Type: news
Blood test may shed new light on Fragile X related disorders
(American Academy of Neurology) A blood test may shed new light on Fragile X syndrome related disorders in women, according to a new study published in the March 25, 2015, online issue of Neurology®, the medical journal of the American Academy of Neurology. Fragile X is the most common inherited form of intellectual disability and the most frequent genetic cause of autism. (Source: EurekAlert! - Social and Behavioral Science)
Source: EurekAlert! - Social and Behavioral Science - March 26, 2015 Category: Global & Universal Source Type: news
Fragile X Syndrome: Genetic Clues Found
In patients with fragile X, a key gene is completely disabled, eliminating a protein that regulates electrical signals in the brain and causing a host of behavioral, neurological and physical symptoms. This patient, in contrast, had only a single error in this gene and exhibited only two classic traits of fragile X - intellectual disability and seizures - allowing the researchers to parse out a previously unknown role for the gene. (Source: Disabled World)
Source: Disabled World - January 21, 2015 Category: Disability Tags: Cognitive Source Type: news
Fragile X Syndrome: Genetic Clues Found
Researchers gain new insight into fragile X syndrome, the most common cause of inherited intellectual disability (Source: Disabled World)
Source: Disabled World - January 21, 2015 Category: Disability Tags: Cognitive Source Type: news
