Usher Syndrome Current Events

Usher Syndrome Current Events, Usher Syndrome News Articles.
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Scientists Identify Key Protein Involved In Progressive Blindness
University of Michigan scientists are part of an international team of researchers who have identified a protein that---when absent or defective because of genetic mutations---causes a disease called Usher syndrome. (1998-06-12)

Novel gene associated with Usher syndrome identified
A team of researchers and including Gregory Frolenkov, associate professor in the University of Kentucky College of Medicine Department of Physiology, reported a novel type of gene associated with Usher syndrome -- a calcium and integrin binding protein 2. (2012-10-01)

Deaf-blind woman deafer than deaf-blind man
Dutch researcher Ronald Pennings has found new clinical and genetic characteristics for two different inherited syndromes that cause deaf-blindness. One of the two syndromes appears to cause more hearing impairment in women than in men. (2004-05-07)

Gene therapy involving antibiotics may help patients with Usher syndrome
A new approach to treating vision loss caused by type 1 Usher syndrome (USH1), the most common condition affecting both sight and hearing, will be unveiled by a scientist at the annual conference of the European Society of Human Genetics Tuesday, June 3. (2008-06-02)

European young investigators network for Usher syndrome awarded E-Rare collab project
Based on a ranking list that was established by the EU Scientific Evaluation Committee, the E-Rare funding bodies recommended the European young investigators network for Usher syndrome (EUR-USH) coordinated by Dr. Kerstin Nagel-Wolfrum from Johannes Gutenberg University Mainz for funding. Out of 82 submitted projects, EUR-USH was among the 11 excellent scientific projects that were chosen after a competitive two-step scientific evaluation by peers. (2013-11-13)

Study offers clues to beating hearing loss
Researchers at the University of Leeds have made a significant step forward in understanding the causes of some forms of deafness. (2009-03-03)

Researchers discover gene that causes deafness
Researchers at the University of Cincinnatiand Cincinnati Children's Hospital Medical Center have found a new genetic mutation responsible for deafness and hearing loss associated with Usher syndrome type 1. (2012-09-30)

UNMC, Boys Town National Research Hospital Researchers Locate Gene That Causes Combined Deafness And Blindness
Researchers at the University of Nebraska Medical Center and Boys Town National Research Hospital in Omaha, Neb. have combined to locate the gene responsible for Usher syndrome Type IIa -- the leading cause of combined deafness and blindness. The discovery could lead to an eventual cure for the genetic disorder. (1998-06-11)

Study finds new role for protein in hearing
University of Iowa scientists have discovered a new role for a protein that is mutated in Usher syndrome, one of the most common forms of deaf-blindness in humans. The findings, which were published Aug. 8 in Nature Neuroscience, may help explain why this mutation causes the most severe form of the condition. (2011-08-15)

New mutations causing inherited deaf-blindness have been discovered
A team of scientists from Sechenov First Moscow State Medical University (MSMU) together with their colleagues from leading scientific centers of Moscow and India described a number of genetic mutations causing Usher syndrome (inherited deaf-blindness). They found previously unstudied unique mutations in investigated DNA regions. The results of the study were published in the Ophthalmic Genetics journal. (2019-01-22)

Treatment approach to human Usher syndrome: Small molecules ignore stop signals
Researchers at Johannes Gutenberg University Mainz in Germany have now developed a new Usher treatment approach. (2011-07-01)

Why Don't Penguins' Feet Freeze?
A new and insightful volume of New Scientist Magazine's quirky science questions and answers from its readers. (2006-09-11)

Preclinical development shows promise to treat hearing loss with Usher syndrome III
A new study published in the July 11 issue of the Journal of Neuroscience details the development of the first mouse model engineered to carry the most common mutation in Usher syndrome III causative gene (Clarin-1) in North America. Further, the research team from Case Western Reserve University School of Medicine used this new model to understand why mutation in Clarin-1 leads to hearing loss. (2012-07-10)

Ray of hope for human Usher syndrome patients
After years of basic research, scientists at Johannes Gutenberg University Mainz are increasingly able to understand the mechanisms underlying the human Usher syndrome and are coming ever closer to finding a successful treatment approach. (2012-12-04)

Light shed on vision and hearing disorders
The most common hereditary condition that affects both hearing and vision is Usher Syndrome (USH). In the next issue of The EMBO Journal, scientists at the Institut Pasteur report on studies that have established the first link between Myosin VIIa, Cadherin 23 and Harmonin b. (2002-12-16)

Novel gene therapy experiment offers hope for people with certain hearing loss and dizziness disorder
In a first-of-its-kind study published in the March 1, 2017 edition of Molecular Therapy, researchers from the National Institute on Deafness and Other Communication Disorders (NIDCD) and Johns Hopkins University School of Medicine showed that gene therapy was able to restore balance and hearing in genetically modified mice that mimic Usher Syndrome, a genetic condition in humans characterized by partial or total hearing loss, dizziness, and vision loss that worsens over time. (2017-03-23)

Researchers develop Rx for deafness, impaired balance in mouse model of Usher syndrome
Jennifer Lentz, Ph.D., Assistant Professor of Otorhinolaryngology & Biocommunications and a member of the Neuroscience Center of Excellence at LSU Health Sciences Center New Orleans, is the lead author of a paper reporting that hearing and balance can be rescued by a new therapy in a mouse model of Usher syndrome (Usher) that contains the mutation responsible for type 1C Usher. The results provide the first evidence that congenital deafness can be effectively overcome by treatment early in development to correct gene expression. (2013-02-04)

Feeling out fine differences in touch sensitivity
We have known about a skin touch sensor for more than 160 years. MDC scientists now publish in Nature Neuroscience some of the first proof of its involvement in detecting tiny vibrations that help us to distinguish between a rough or a smooth surface. (2020-12-07)

Genetic modifier in Usher syndrome will lead to better diagnosis
Usher syndrome (USH), an inherited condition involving both hearing and vision loss, is not a simply recessively inherited disease. New research challenges the traditional view that USH was inherited as a single gene disorder, and shows that it may result from at least two different genetic mutations. (2010-06-11)

Case Western Reserve University receives $1.66M grant from NIH for otoprotection research
Qing Yin Zheng, M.D., assistant professor of otolaryngology-head and neck surgery and genetics at the Case Western Reserve University School of Medicine, and member of the Case Comprehensive Cancer Center, has been awarded a five-year $1.66 million grant from the National Institutes of Health Research Project Grant Program to explore the impact of several molecular pathways on inner ear dysfunction in Ushers syndrome. (2009-04-13)

Book celebrates centenary of city's advances in public health
A new book charting the health of Edinburgh residents in the past century is launched today Wednesday (8 December) at the University of Edinburgh. (2004-12-08)

Is Cajun in the genes?
LSU Professor of Life Sciences Mark Batzer has been working for more than a decade with researchers from the LSU Health Sciences Center and the Tulane Health Sciences Center in New Orleans to trace, analyze and better understand the genetics of the Acadian, or (2005-06-30)

Non-invasive first trimester blood test reliably detects Down's syndrome
Cell-free fetal DNA testing, which measures the relative amount of free fetal DNA in a pregnant woman's blood, is a new screening test that indicates the risk of Down syndrome (trisomy 21), (2015-02-02)

Scientists prevent development of deafness in animals engineered to have Usher syndrome
Most cases of congenital deafness are due to a mutation in a gene that is required for normal development of the sensory hair cells in the inner ear that are responsible for detecting sound. To cure deafness caused by such mutations, the expression of the gene must be corrected, a feat that has been elusive until recently. (2013-02-04)

UMN researchers study the impact of insurance coverage on transferred patients
University of Minnesota Medical School researchers seek to identify the relationship between insurance coverage and the mortality rate of patients transferred between hospitals. (2018-11-07)

Gene mutation leads to impairment of 2 senses: Touch and hearing
People with good hearing also have a keen sense of touch; people with impaired hearing generally have an impaired sense of touch. Extensive data supporting this hypothesis was presented by Dr. Henning Frenzel and professor Gary R. Lewin of the Max Delbrueck Center in Berlin-Buch, Germany. In patients with Usher syndrome and studies with twins they showed that both senses -- hearing and touch -- have a common genetic basis. (2012-05-01)

Study casts doubt over value of popular PMS treatment
Treatment of premenstrual syndrome with the hormone progesterone or progestogens (a group of drugs similar to progesterone) is unlikely to be effective, despite the continued popularity of these treatments in the United Kingdom and the United States, concludes a study in this week's BMJ. (2001-10-04)

Early diagnosis of Usher syndrome type 1 made possible by new findings
Deafness in both ears and progressive loss of vision due to retinitis pigmentosa are the indicators of Usher syndrome. There are three clinical subtypes of Usher syndrome, Usher type 1, being the most severe. This syndrome involves deafness at birth, progressive blindness and balance problems. In 1861, clinical features of Usher syndrome in Jewish individuals were described. Now, 140 years later, there is an opportunity to offer help to those individuals who inherit this syndrome. (2003-05-02)

Genes reveal clues about people's potential life expectancy
Scientists say they can predict whether a person can expect to live longer or die sooner than average, by looking at their DNA. Experts at the University of Edinburgh have analysed the combined effect of genetic variations that influence lifespan to produce a scoring system. People who score in the top ten per cent of the population might expect to live up to five years longer than those who score in the lowest ten per cent, they say. (2019-01-15)

Journalists' Twitter use shows them talking within smaller bubbles
Journalists in Washington, D.C., have long been accused of living in a ''Beltway bubble.'' Their interactions on Twitter, however, show them congregating in even smaller ''microbubbles,'' says a recent study. The journalists within each communicate more among themselves than with journalists outside the group. That means Beltway journalism ''may be even more insular than previously thought,'' say study authors Nikki Usher and Yee Man Margaret Ng, journalism professors at the University of Illinois, Urbana-Champaign. (2020-08-05)

Experts discuss future of public health research on Down syndrome
Down syndrome, the most commonly identified cause of cognitive impairment, occurs in approximately one in 700 births in the United States. Additionally, nearly 80 percent of fetuses with Down syndrome are lost before birth. (2008-11-06)

New research suggests in-womb gene correction
New research led by hearing scientists at Oregon Health & Science University suggests an avenue to treat and prevent intractable genetic disorders before birth. Researchers at the Oregon Hearing Research Center, working with mice, injected a specially designed synthetic molecule into the developing inner ear of fetal mice 12 days after fertilization. The study found that the technique corrected the expression of a mutated gene that causes Usher syndrome. (2020-04-05)

Astrophysicist Finds New Scientific Meaning in Shakespeare's Hamlet
A paper read at the January meeting of the American Astronomical Society offers a new interpretation of Shakespeare's play Hamlet: that Hamlet is an allegory for the competition between two cosmological theories. (1997-01-23)

Going with your gut
Decision-making is one of the most mysterious parts of the human experience, and we're taught to weigh our options carefully before deciding. Now a Tel Aviv University researcher says that, surprisingly, intuition alone can guide the right choice. (2012-11-08)

BMI just part of ischemic heart disease risk picture
St-Pierre and colleagues report that, among obese men, only those who have more than 4 features of insulin resistance syndrome were at increased risk of ischemic heart disease compared with normal-weight men who had fewer than 3 features of the syndrome. (2005-05-09)

New cause of child brain tumor condition identified
Doctors and scientists from the University of Manchester have identified changes in a gene, which can increase the risk of developing brain tumors in children with a rare inherited condition called Gorlin syndrome. (2014-12-02)

Modified Atkins diet helps children with rare form of epilepsy
Doose syndrome or myoclonic-astatic epilepsy is a rare syndrome accounting for one to two percent of childhood epilepsies. (2017-02-23)

Drug to treat malaria could mitigate hereditary hearing loss
The ability to hear depends on proteins to reach the outer membrane of sensory cells in the inner ear. But in certain types of hereditary hearing loss, mutations in the protein prevent it from reaching these membranes. Using a zebrafish model, researchers at Case Western Reserve University School of Medicine have found that an anti-malarial drug called artemisinin may help prevent hearing loss associated with this genetic disorder. (2019-06-11)

New book on retinal disorders from Cold Spring Harbor Laboratory Press
'Retinal Disorders' from Cold Spring Harbor Laboratory Press reviews recent work on retinal diseases, describing their genetic and molecular basis, their clinical characteristics, and strategies to diagnose and treat them. The contributors emphasize how genetic approaches are currently driving progress in the field. They discuss the genetic mutations and modifiers that underlie disease development and progression, the gene expression patterns that characterize them, and how this information is being used for medical applications. (2015-01-21)

Blooming health thanks to a frog
In the October 15 issue of the scientific journal Genes & Development, Dr. Hong Yan and his team at Fox Chase Cancer Center in Philadelphia detail their use of frogs to investigate how the gene defective in patients with Bloom's Syndrome functions. (2000-10-14)

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