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Current Usher Syndrome News and Events, Usher Syndrome News Articles.
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Alzheimer's disease works differently in patients with and without Down syndrome
Researchers at the University of Kentucky's Sanders-Brown Center on Aging have completed a study that revealed differences in the way brain inflammation -- considered a key component of Alzheimer's disease -- is expressed in different subsets of patients, in particular people with Down syndrome and AD. (2015-06-25)

Rettsyndrome.org announces new 2015 Translational Research Awards
Rettsyndrome.org announces today that the Board of Trustees has awarded $1M to launch the Read-Through Program, further translational research in the area of neuro-habilitation, and fund clinical research. (2015-06-25)

Therapy affects the brain of people with Tourette syndrome
In addition to its effect on chronic tics, cognitive behavioral therapy can change the brain function of people with Tourette syndrome. (2015-06-25)

Potential treatment target identified for rare form of diabetes, other disorders
Scientists working to find treatments for a rare and severe form of diabetes known as Wolfram syndrome have identified a gatekeeper that prevents harmful molecules from spilling and triggering cell death. The researchers, at Washington University School of Medicine in St. Louis, also have found that the gatekeeper -- an enzyme -- may be a good treatment target not only for diabetes but for heart problems, Parkinson's disease and other disorders. (2015-06-23)

Physician receives lifetime achievement award
Michael Charness, M.D., professor of neurology and associate dean of veterans affairs at Boston University School of Medicine and Chief of Staff of the VA Boston Health Care System has been selected by the Rosett Committee of the Fetal Alcohol Spectrum Disorders Study Group as the 2015 recipient of the Henry Rosett Award for Outstanding Contributions to the Fetal Alcohol Spectrum Disorders field. (2015-06-22)

Saliva exonerated
A gene previously suspected of wielding the single greatest genetic influence on human obesity actually has nothing to do with body weight, according to a new study led by researchers at Harvard Medical School and Boston Children's Hospital. (2015-06-22)

MERS coronavirus: Candidate vaccine gears up for clinical trials
Researchers from Ludwig-Maximilians-Universitaet in Munich have demonstrated, in a preclinical setting, the protective effect of a candidate vaccine directed against the coronavirus that causes Middle East Respiratory Syndrome. Planning for the first clinical trial is now underway. (2015-06-22)

Thick cortex could be key in Down syndrome
The thickness of the brain's cerebral cortex could be a key to unlocking answers about intellectual development in youth with Down syndrome. It could also provide new insights to why individuals with this genetic neurodevelopmental disorder are highly susceptible to early onset Alzheimer's disease later in life. (2015-06-19)

New biomarker identified in women with mental illness
Psychiatric disorders can be difficult to diagnose because clinicians must rely upon interpreted clues, such as a patient's behaviors and feelings. For the first time, researchers at University of California, San Diego School of Medicine report identifying a biological marker: the over-production of specific genes that could be a diagnostic indicator of mental illness in female psychiatric patients. (2015-06-19)

TGen study identifies first genetic mutation associated with Aicardi syndrome
A genetic mutation responsible for a debilitating childhood neurological condition known as Aicardi syndrome has been identified by the Translational Genomics Research Institute. In a study published today in the scientific journal Investigative Ophthalmology & Visual Science, TGen researchers identified mutations to a gene known as TEAD1, which not only affects formation of the brain but also the retina, the part of the eye responsible for helping turn light into nerve impulses. (2015-06-19)

Zebrafish provide a novel model to study short bowel syndrome
Investigators at Children's Hospital Los Angeles are providing new hope for babies with short bowel syndrome (SBS) by developing a novel model of SBS in zebrafish, described in a paper published online on June 18 by the American Journal of Physiology-Gastrointestinal and Liver Physiology. (2015-06-18)

Study looks at risk, family relatedness for Tourette syndrome, tic disorders
The risk for tic disorders, including Tourette syndrome and chronic tic disorders, increased with the degree of genetic relatedness in a study of families in Sweden, according to an article published online by JAMA Psychiatry. (2015-06-17)

Researchers develop new technique for modeling neuronal connectivity using stem cells
Human stem cells can be differentiated to produce other cell types, such as organ cells, skin cells, or brain cells. While organ cells, for example, can function in isolation, brain cells require synapses, or connectors, between cells and between regions of the brain. In a new study published in Restorative Neurology and Neuroscience, researchers report successfully growing multiple brain structures and forming connections between them in vitro, in a single culture vessel, for the first time. (2015-06-15)

UMN scientists identify 2 mutations critical for MERS transmission from bats to humans
Researchers have identified two critical mutations allowing the deadly Middle East Respiratory Syndrome (MERS) virus to transmit from bats to humans. The findings were published in the most recent edition of the Journal of Virology. (2015-06-11)

Fragile X proteins involved in proper neuron development
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. (2015-06-10)

Lean despite many calories
Scientists from the German Cancer Research Center have identified an enzyme in mice that is involved in obesity and metabolic disruptions associated with it, such as type 2 diabetes. When the investigators turned off the enzyme in experiments, the animals did not gain any weight despite being fed a diet that was rich in fat and caloric content. Furthermore, they did not develop diabetes. So far, however, there is still not much evidence that this mechanism also plays a role in humans. (2015-06-08)

Study examines psychotropic medication use in children, teens with Down syndrome
A new study gives insight into the mental health of children and teens with Down syndrome and the behavioral medications that medical caregivers sometimes prescribe for them. (2015-06-08)

Noninvasive prenatal testing: Effective, safe, preferred by parents
UK researchers say that none-invasive prenatal testing is feasible, acceptable to parents, and could be introduced into the National Health Service. The same team also found that the technique was effective in the prenatal diagnosis of congenital adrenal hyperplasia, which exposes a female fetus to male hormones and can result in the development of masculinized external genitalia. (2015-06-05)

The Lancet: Middle East respiratory syndrome (MERS) Seminar
Middle East respiratory syndrome (MERS) has recently returned to the headlines as new cases have been exported to Korea and China. Experts are concerned that MERS cases continued to be detected in Saudi Arabia throughout the past year, and there appears to be little reduction in the number of cases since its first discovery three years ago. (2015-06-03)

Azrieli Foundation donates $10 million for Hebrew University research
The Azrieli Foundation has donated $10 million to fund research at the Hebrew University of Jerusalem's new Azrieli Center for Stem Cells and Genetic Research, in order to study and develop cures for a wide variety of genetic disorders. Led by stem cell pioneer Dr. Nissim Benvenisty working in collaboration with labs in Boston, New York and Los Angeles, the center will house one of the largest repositories of stem cells carrying genetic diseases. (2015-06-03)

Vestibulo-ocular dysfunction in children and adolescents with sports-related concussion
Researchers from the Canada North Concussion Network in Manitoba investigated the frequency of vestibulo-ocular dysfunction in children and adolescents with sports-related concussion and found that its presence was predictive of a prolonged recovery. (2015-06-02)

Telemedicine exams result in antibiotics as often as regular exams, study finds
Telemedicine is growing rapidly, yet there is relatively little research about the quality of such services. A new study finds that patients treated for an acute respiratory infection by a doctor on a telephone or live video are as likely to be prescribed an antibiotic as patients who are treated by a physician face-to-face. The report is the first to assess quality of direct-to-consumer telemedicine as compared to in-person care for common acute respiratory infections. (2015-05-27)

Frailer older patients at higher risk of readmission or death after discharge from hospital
Frailer older patients are at higher risk of readmission to hospital or death within 30 days after discharge from a general internal medicine ward, but health care professionals can assess who is at risk using the Clinical Frailty Scale, according to a study in CMAJ. (2015-05-25)

Premature aging: Scientists identify and correct defects in diseased cells
Scientists from the Institut Pasteur and CNRS, in collaboration with scientists from the Institut Gustave Roussy and CEA, have succeeded in restoring normal activity in cells isolated from patients with the premature aging disease Cockayne syndrome. They have uncovered the role played in these cells by an enzyme, the HTRA3 protease. (2015-05-21)

New studies contradict earlier findings on Rett syndrome
Scientists at the University of Iowa, Baylor College of Medicine, Fred Hutchinson Cancer Research Center, and the University Medical Center Gottingen, in Germany, show that bone marrow transplant does not rescue mouse models of Rett syndrome, a severe neurological disease that affects very young girls. The findings contradict seemingly promising results published in 2012, which initiated a clinical trial for human patients. (2015-05-20)

People with metabolic syndrome face higher cardiovascular death risk
People who have metabolic syndrome are more likely to die from cardiovascular disease than people who do not have the condition, and having diabetes or high blood pressure worsens the risk, according to a new study published in the Endocrine Society's Journal of Clinical Endocrinology & Metabolism. (2015-05-20)

US forest service research team releases bats treated for WNS
USDA Forest Service scientists, collaborators, and supporters gathered at Mark Twain Cave Complex in Hannibal, Mo., on Tuesday evening to express cautious optimism about a possible treatment for White-nose Syndrome (WNS). The purpose of the gathering was to release bats that had WNS last fall but were successfully treated during a field trial over the past winter. (2015-05-20)

Metabolic abnormalities may increase cardiovascular risk more in black women than white women
Large waistline, cholesterol disorders and other metabolic abnormalities may increase the relative risk of cardiovascular disease more among black women than among white women. Black women who were overweight or obese had elevated cardiovascular risk compared with normal weight black women even when they did not have metabolic abnormalities. White women who were overweight or obese, but did not have the metabolic syndrome had a cardiovascular risk similar to that of normal weight white women without the metabolic syndrome. (2015-05-20)

Researchers pin down enzyme role in muscle 'aging'
Researchers at the University of Birmingham have identified the role of an enzyme in muscle wasting, and associated age-related problems. They believe that inhibiting it could hold the key to developing ways of preventing, or reversing, the adverse effects. (2015-05-19)

Cancer drugs may hold key to treating Down syndrome and other brain disorders
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. (2015-05-19)

Study finds high prevalence of metabolic syndrome in US
Nearly 35 percent of all US adults and 50 percent of those 60 years of age or older were estimated to have the metabolic syndrome in 2011-2012, according to a study in the May 19 issue of JAMA. (2015-05-19)

Missing molecule prevents puberty
A molecule important in blood vessel formation and brain wiring is also essential for the onset of puberty, finds new research led by UCL. The researchers found a genetic fault that prevented this molecule, called SEMA3E, from being working correctly in two brothers with Kallman syndrome, an inherited condition that prevents people from undergoing puberty or being able to smell. They then studied mice without SEMA3E to see how its loss affected their development. (2015-05-18)

Physical training helps women with polycystic ovary syndrome
Women with polycystic ovary syndrome, a hormonal disorder that affects 5 to 10 percent of the female population of fertile age, often experience sexual dysfunction and low self-esteem, but a new study shows that physical resistance training can help. (2015-05-18)

Definitive tests for irritable bowel syndrome developed at Cedars-Sinai
Millions of people afflicted by irritable bowel syndrome can now be diagnosed quickly and accurately with two simple blood tests developed by a Cedars-Sinai gastroenterologist. (2015-05-14)

Older patients receive less evidence-based cardiac care than younger patients
People in their 80s and 90s are more likely to develop acute coronary syndrome than their younger counterparts. Despite this, they receive less therapy and diagnostic procedures. A doctoral thesis at the University of Gothenburg has explored the topic. (2015-05-13)

Cause of regression in individuals with Down syndrome identified
Down syndrome, the most common chromosomal disorder in America, can be complicated by significant deterioration in movement, speech and functioning in some adolescents and young adults. Physicians previously attributed this regression to depression or early-onset Alzheimer's, and it has not responded to treatments. Now, a researcher at the University of Missouri has found that Catatonia, a treatable disorder, may cause regression in patients with Down syndrome. Individuals with regressive Down syndrome who were treated for Catatonia showed improvement, the researcher found. (2015-05-12)

Griffith research sheds new light on cause of CFS
New research findings may shed new light on the potential cause of chronic fatigue syndrome/myalgic encephalomyelitis (CFS/ME). (2015-05-11)

New research implicates immune system in Rett syndrome
New research by investigators at the University of Massachusetts Medical School suggests the immune system plays an unsuspected and surprising role in the progression of Rett syndrome, a severe neurological disorder affecting children. (2015-05-11)

Evidence of efficacy of gene therapy in rodents affected by a rare genetic liver disease, Crigler-Najjar syndrome
Federico Mingozzi, head of the Immunology and Liver Gene Therapy team at Généthon, the laboratory created by the AFM-Téléthon, presented at the 48th Annual Meeting of the European Society for Pediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN, May 6-9, Amsterdam), work done in collaboration with an Italian and Dutch teams showing long-term correction of a genetic defect causing toxic buildup of bilirubin in murine and rat models of Crigler-Najjar syndrome. (2015-05-07)

Scientists discover key driver of human aging
Salk Institute findings on premature aging syndrome could lead to way of slowing or reversing the aging process. (2015-04-30)

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