Scientists uncover new clues about brain function in human behavior
...h a genetic abnormality, Williams Syndrome, a rare disorder that causes unique changes in social behavior. This comparison enabled the researchers to both define a brain circuit for social function in the healthy human brain, and identify the specific way in which it was affected by genetic changes in William...Huntington's cure in flies lays groundwork for broader treatment approaches
...of genetic disorders, says Yin. In working with a disorder such as Fragile X Syndrome, for example, conventional therapies might focus all their efforts on repairing the genetic pathways that cause neurons to go awry. Meanwhile, "the defective gene is not just in one type of tissue," says Yin. "And we are no...Targeting a key enzyme with gene therapy reversed course of Alzheimer's disease in mouse models
...eimer's disease is a progressive neurodegenerative disorder and the most common cause of dementia among the elderly in the United States, affecting 4.5-5 million adults - 10 times more than those affected by Parkinson's disease. Starting with mild memory problems and ending with severe brain damage, Alzheimer...Defect in gene causes 'neuralgic amyotrophy'
Neuralgic Amyotrophy is a painful disorder of the peripheral nervous system. This heritable ... this disorder. Neuralgic Amyotrophy, a painful disorder of the nervous system Hereditary Neuralgic Amyotrophy (HNA) is characterized by repeated attacks ......gical disease, such as myasthenia gravis, a common disorder in which a defect in nerve impulse transmission results in muscle weakness. In this and other neurological diseases, "there may be an anomaly at the receptor level, but it is impossible to pinpoint the problem with existing techniques. With our model...Gene therapy to lower blood pressure just enough
... four months promises to take gene therapy for the disorder a step closer to reality, said researchers at Baylor College of Medicine in a report released online in the Proceedings of the National Academy of Sciences. "High blood pressure is one of the leading causes of death and disability in adults worldwid...Gambling monkeys give insight into neural machinery of risk
...s like pathological gambling, obsessive-compulsive disorder and depression. We can do pharmacological manipulation of the serotonin system in monkeys to see how it influences risk perception and risk preferences, and whether we see changes at the level of the single neurons that we're studying." What's more,...Scientists focus on 'dwarf eye'
...k for "dwarf eye," is a rare, potentially blinding disorder caused by an alteration in a gene called MFRP that helps control eye growth and regulates the organ's shape and focus. The study is described in the July 5 issue of the Proceedings of the National Academy of Sciences. "The MFRP protein is only made ...Redesigned protein accelerates blood clotting
...r the treatment of hemophilia, the inherited blood disorder that causes easy or excessive bleeding in 30,000 Americans. In most cases, hemophilia is caused by a lack of factor VIII, one of several proteins that enable blood to solidify, or clot, to plug wounds after injury. Current preventive treatment consi...Researchers track down cause of a disfiguring bone disorder
...Van Buchem disease, a hereditary, disfiguring bone disorder that can cause blindness and deafness. The findings provide insight into long-range gene regulation and could lead to new treatments for osteoporosis and other crippling bone disorders. A research team from Lawrence Livermore and Lawrence Berkeley n...Pinpointing the cause of a neurodegenerative disorder
... who are afflicted with the rare neurodegenerative disorder spinocerebellar ataxia type 1 (SCA1) suffer damage to cerebellar Purkinje cells caused by a toxic buildup of the protein Ataxin-1. Researchers knew that SCA1, Huntington's disease and other related disorders arise because of a "genetic stutter," in w...New insights into how Huntington's disease attacks the brain
...disease." Huntington's disease is a genetic brain disorder that usually strikes in mid-life, but can also att...le and places another 150,000 persons at risk. The disorder affects males and females equally and crosses all ethnic and racial boundaries. ...Discovery of New Dopamine Action May Yield Alternative Psychiatric Drugs
...lie schizophrenia, attention deficit hyperactivity disorder and other psychiatric conditions. The findings therefore provide new research avenues to understand and potentially manage such dopamine-related human disorders, the researchers said. "We've thought that neurotransmitters relay messages to the brain...Determining The Fate Of Cells In The Human Body
...sible for Saethre-Chotzen Syndrome, a rare genetic disorder associated with limb abnormalities including webbed fingers and other developmental defects. In the study, Dr. Firulli and colleagues studied how two proteins, Twist1 and Hand2, which are antagonists, couple to determine the number of digits on a ha...Researchers pioneer new gene therapy technique using natural repair process
...as sickle cell disease." Sickle cell disease is a disorder in which blood cells carry a mutation in hemoglobin. The mutation causes the blood cells to change shape, preventing them from flowing through the blood vessels efficiently. One out of every 12 African-American individuals carries this mutation, and ...Disabling gene defuses rheumatoid arthritis in mice
...ice prevented the development of an arthritis-like disorder by making the neutrophils victims of their own dam... are two to three times more likely to develop the disorder than men. Symptoms often occur in episodic bursts and may include morning stiffness, fatigue and joi...Embryonic Stem Cells Treated With Growth Factor Reverse Hemophilia In Mice: UNC Researchers
...which in humans results in the hereditary bleeding disorder known as hemophilia B. This disease, much less common than hemophilia A, affects roughly one of every 35,000 people, primarily males. Although embryonic stem, or ES, cells can differentiate into most cell types in the body, numerous problems have ar...Infants with Rare Genetic Disease Saved By Cord Blood Stem Cells
Children with a fatal genetic disorder called Krabbe Disease can be saved and their brain development preserved if they receive stem cells from umbilical cord blood before symptoms of the disease develop, according to a study published in the May 19, 2005, issue of the New England Journal...FDA Warns About Antipsychotic Drugs and Elderly
...ent of depressive episodes associated with bipolar disorder is also included in the agency's advisory. FDA is requesting that the manufacturers of all of these kinds of drugs add a boxed warning to their drug labeling describing this risk and noting that these drugs are not approved for the treatment of beha...Genetic therapy reverses nervous system damage in animal model of inherited human disease
...mals involved in the study are born with a genetic disorder directly analogous to alpha-mannosidosis or AMD, an inherited disease in humans that causes severe mental retardation and skeletal abnormalities. Cats with AMD do not live more than six months. Children born with the worst form of the disease rarely ...