Researchers at Rockefeller University have discovered that FMRP controls the fate of specific proteins in brain cells, explaining the physical, cognitive, and behavioral abnormalities characteristic of fragile X syndrome. The findings offer potential for future therapies to lessen the disease's impact.
Researchers found that regular treadmill exercise with parents can help children with Down Syndrome walk three and a half months sooner than those without therapy. This early mobility improves independence and reduces stress for parents.
Mutations of the Lkb1 gene cause Peutz-Jeghers syndrome, a disorder characterized by polyps in the intestines and increased risk for cancerous tumors. Researchers found that Lkb1 regulates the formation of heart and blood vessels in embryos.
A clinical study of 800 people with Long QT Syndrome found that an individual's own characteristics and electrocardiogram findings are the major determinants of risk for sudden death. This challenges the long-held assumption that family history plays a role in determining the risk.
Scientists have found that teenage girls with Turner's syndrome still possess follicles in their ovaries, which may enable them to produce eggs. This breakthrough discovery provides a glimmer of hope for these women who are usually infertile due to the syndrome. Further research is needed to confirm the findings and explore the possibi...
Researchers have pinpointed the first human gene that controls circadian rhythm, a discovery that raises hopes for treating sleep problems in adolescents, the elderly, and shift workers. The study found a mutation in the hPer2 gene, which is responsible for familial advanced sleep-phase syndrome.
A study of identical twins found a significant association between chronic fatigue syndrome and an increased incidence of fibromyalgia and irritable bowel syndrome. The researchers suggest that physicians should assess CFS patients for other clinical conditions, as these illnesses can compound the condition's high costs.
Researchers used frog extracts to study DNA replication in Bloom's Syndrome, finding the protein essential for this process. This discovery may lead to new treatments for human cancer, as the protein is likely to have the same function in humans.
A new prenatal screening test has been developed to detect Down syndrome cases in the first trimester, identifying over 90% of cases. The test combines a blood test and an ultrasound exam, detecting more cases than traditional triple tests and providing earlier reassurance to pregnant women.
A new screening test combining blood and ultrasound exams can identify over 90% of Down syndrome cases in the first trimester of pregnancy. The test, Ultrascreen, has the advantage of detecting more cases earlier than traditional tests.
A study found that antibodies in patients with primary Sjogren's syndrome bind to small nerve endings, blocking transmission and causing severe dryness of the eyes and mouth. Researchers hope to use this discovery to develop new treatments for autoimmune diseases.
A new national study found that unusual infections and fat emboli contribute significantly to acute chest syndrome in sickle cell disease patients. The syndrome is the leading cause of death among sickle cell patients, and earlier diagnosis and treatment may save many lives.
Researchers at Johns Hopkins Medicine verified Down syndrome in a genetically modified mouse model, finding identical skull and facial deformities as seen in humans. The study used sophisticated statistical techniques to match the mice' data with well-established characteristics of DS patients.
A new UCSF study reveals that working conditions and job type significantly influence a person's decision to continue working or leave the workforce after developing carpal tunnel syndrome. Women are more likely to make changes to their work situation due to poorer support at home and greater fatigue following diagnosis.
Increasing folate levels prior to conception could reduce Down syndrome risk, according to a study funded by the FDA. Folate deficiency at conception increases neural tube defect risk, including spina bifida, which is the leading cause of childhood paralysis.
A Mayo Clinic study found that a genetic defect known as long-QT syndrome may be the cause of many unexplained drownings. The research identified a genetic mutation in a 19-year-old woman who died after a near-drowning, and subsequent testing revealed that her mother and sister also had inherited the condition.
Researchers at Howard Hughes Medical Institute uncover the first human disease linked to a defect in the MECP2 gene silencer mechanism. The discovery provides new insights into nervous system development and may lead to new treatments for Rett Syndrome, a neurodevelopmental disorder causing mental regression in young girls.
Researchers have identified the gene responsible for Rett syndrome, a condition that gradually robs girls of their language, mental functioning, and ability to interact with others. The discovery has immediate implications for diagnosis and treatment.
A study published in the Journal of Comparative Neurology found that moderate fetal alcohol exposure can cause the corpus callosum to be larger than normal, contradicting previous research. This could have significant implications for our understanding of fetal alcohol syndrome and its effects on brain development.
Researchers found that low doses of Tacrine hydrochloride reduced motor and vocal tics in adults with Tourette syndrome. The study also showed dose-related improvement in comorbid symptoms such as attentional difficulties, hyperactivity, and obsessive thinking.
A study published in The New England Journal of Medicine found that early surgery can reduce death rates from aortic aneurysms by 90% compared to emergency repairs. The study involved 675 Marfan syndrome patients and showed that mortality rates were significantly lower when treatment was initiated earlier.
Researchers found no link between M74 and environmental pollutants, but suspect complex interacting factors in the Baltic Sea. Precautionary treatment with Vitamin B1 reduces mortality in salmon hatcheries.
Research shows that caregivers with Alzheimer's disease are more likely to develop a high metabolic syndrome level, which increases the risk of heart attack and other health complications. Interventions such as exercise, psychological uplifts, and improved diet may help reduce stress and mitigate this risk.
Research at the University of Delaware reveals that children with Williams Syndrome may struggle to describe spatial relationships, using motion verbs less frequently and having difficulties encoding object properties and location. This cognitive deficit may be related to their impaired non-linguistic knowledge.
A study linked three specific genes to the progress of Long QT syndrome, a heart-rhythm disorder that affects 25,000 Americans annually. Patients with defective genes can now expect their disease course, allowing for targeted treatments and improved outcomes.
Scientists have isolated the WFS1 gene responsible for Wolfram Syndrome, a rare form of insulin-dependent diabetes. The disorder is characterized by insulin-secreting cell death and progressive neurodegeneration, leading to blindness and premature death. Understanding this gene may lead to new treatments for common forms of diabetes.
Researchers are identifying the gene that causes Alström Syndrome, a recessive genetic disorder causing blindness, hearing loss, and other conditions. By studying DNA samples from living individuals and their families, they hope to find the gene's location and develop an animal model for the disease.
A new University of Delaware study explores the cognitive impacts of Williams Syndrome, revealing discrepancies in spatial and language skills. Children with Williams Syndrome exhibit extraordinary verbal skills but struggle with spatial tasks, such as replicating shapes or describing directions.
A recent study published in Annals of Internal Medicine found that testosterone administration significantly increases lean body mass and improves the quality of life in men with AIDS wasting syndrome. The treatment was shown to produce significant term benefits, making it an important new therapy for patients with this condition.
A recent study suggests that moderate drinking may protect against coronary heart disease by improving insulin sensitivity. Analysis of a large Italian database found that the prevalence of Syndrome X, a condition characterized by abnormal levels of triglycerides, HDL cholesterol, blood pressure, and glucose, was significantly higher a...
Researchers found that misoprostol can cause congenital facial paralysis known as Mobius syndrome in children born to mothers who took the drug during pregnancy. The study also showed that mothers who used misoprostol were more likely to have infants with Mobius syndrome compared to those who did not use the medication.
Researchers at the University of Michigan have identified a protein that causes progressive retinal degeneration and functional blindness in children with Usher syndrome. Understanding the function of this protein may lead to new treatments for people with Usher syndrome and other types of retinal degeneration.
A team of researchers from UNMC and Boys Town National Research Hospital has identified the gene responsible for Usher syndrome Type IIa, a genetic disorder affecting 4 in 100,000 people. The discovery may lead to an eventual cure for the condition, which causes moderate to severe hearing loss and juvenile blindness.
Researchers developed a new blood test that can detect Down syndrome in the first trimester with accuracy rates exceeding 60%. The test combines measurements of human chorionic gonadotropin and pregnancy-associated protein A to identify women at higher risk of carrying a fetus with the condition.
The Emory University Fragile X Group will investigate molecular, neurological, and biochemical approaches to clarify the fragile X syndrome, a cause of inherited mental retardation in humans. The team aims to develop model systems and explore potential therapeutic strategies.
Researchers identified a novel gene, Doublecortin, involved in cortical development and associated with severe forms of epilepsy and mental retardation. The gene is linked to the X-SCLH/LIS syndrome, which affects brain structure and function.
Researchers at Columbia University Irving Medical Center identified the P-TEN gene as a new breast cancer susceptibility gene. The discovery could lead to better tests for early detection and more effective treatments for women with Cowden's syndrome, an autosomal dominant disorder that increases breast cancer risk by 50-75%.
Researchers found higher Down syndrome prevalence among Hispanic mothers under 40, lower rates among older mothers, compared to white counterparts. Prenatal genetic testing usage also showed significant differences between ethnic groups.
Researchers at Johns Hopkins Medicine identify TWIST gene as cause of Saethre-Chotzen syndrome, a rare genetic disorder characterized by craniofacial abnormalities and limb defects. The study confirms the role of the TWIST protein in human development and provides insight into the confusion with Crouzon syndrome.
Researchers have identified the gene responsible for Chediak-Higashi syndrome, a fatal childhood disease that weakens the immune system and increases cancer risk. The discovery could lead to new treatments and diagnostic tests for patients with cancer or autoimmune disorders like lupus.