A molecule that protects from neuronal disorders
Researchers at EMBL have identified a molecule called n-cofilin crucial for preventing neuronal disorders. The protein helps organise cell skeleton, essential for brain development and function.
Genetic Disorders
Articles tagged with Genetic Disorders
MIT IDs binocular vision gene
Researchers from the Picower Institute at MIT have identified the gene Ten_m3 as crucial for creating matched projections from both eyes in the brain. In mice with this gene knocked out, visual deficits persisted even when one eye was covered, but blocking the output of one eye restored vision.
Gene variant is associated with brain anatomy, clinical course of ADHD
A study found a gene variant associated with thinner brain tissue in areas handling attention, but also better clinical outcomes among individuals with ADHD. The 7-repeat form of the dopamine D4 receptor gene was linked to improved symptoms and regained brain thickness in affected individuals.
A pioneering study opens roads for tailor-made antidepressants
A pioneering study has confirmed the relation between allele s in the serotonin transporter gene and exposure to threatening life events in the onset of depression. The research predicts a personalized approach to treating depression by tailoring antidepressant treatment to an individual's genetic configuration and environmental factors.
Research team enlightens the reasons for severe blindness
A research team has identified a genetic deficiency that causes severe blindness, specifically Leber Congenital Amaurosis (LCA). The discovery of the LCA5 gene and its protein lebercilin provides new opportunities for gene therapy, which could lead to the treatment of this disease in humans.
Gene predicts better outcome as cortex normalizes in teens with ADHD
A specific gene variant associated with attention deficit hyperactivity disorder (ADHD) may also predict better clinical outcomes and higher IQ in teens. The variant, called the 7-repeat version of the dopamine D4 receptor gene, is linked to thinner brain areas controlling attention but confers advantage only among youth with ADHD.
New databases put wings on search for bipolar risk genes
The Bipolar Disorder Phenome Database offers a comprehensive resource for researchers to identify genes linked to bipolar disorder, utilizing over 5,000 patients' clinical data and DNA samples. This database complements existing genetic data and enables researchers to correlate specific symptoms with genetic material.
Evidence of a common genetic background for ankylosing spondylitis and inflammatory bowel disease
Researchers identified a significant genetic link between ankylosing spondylitis (AS) and inflammatory bowel disease (IBD), with evidence of clustering within families over six generations. The study found increased risk ratios for relatives of affected individuals, indicating a common genetic component for both conditions.
Researchers discover gene responsible for Restless Legs Syndrome
A study published in the New England Journal of Medicine identifies a genetic link to Restless Legs Syndrome (RLS), a common sleep disorder. The gene variant is found to be associated with at least 50% of RLS cases, and nearly 65% of the population carries at least one copy.
Study finds hereditary link to premenstrual depression
A new study has identified a specific genetic variation linked to severe premenstrual depression in women. The study found that four genetic variants in the estrogen receptor alpha gene were more common in women with premenstrual dysphoric disorder, suggesting a hereditary link to the condition.
It's in their genes: Study of twins connects smoking addiction with major depression
A study of twins has connected genetic factors to the link between smoking addiction and major depression. The research found a shared gene associated with conduct disorder, which increases the risk of nicotine dependence and major depression, also leading to impulsivity and other drug addictions.
Nearly 90 percent of babies receive recommended newborn screening tests
The March of Dimes reports that nearly 90% of US babies are screened for life-threatening disorders, up from 38% in 2005. However, 500,000 babies remain uninsured, highlighting the need for federal guidelines and increased funding to support states' newborn screening programs.
Penn study maps road to cure for inherited eye diseases
A new study has identified proteins in the rod and cones of the eye that could lead to the discovery of the genetic causes of a host of inherited eye diseases. The researchers hope to gain a clearer understanding of what goes wrong at the most basic level in these diseases that cause blindness and other disorders.
Gene discovery aids understanding of common inherited neurological disorder
Scientists have identified a gene mutation causing one form of Charcot-Marie-Tooth disorder, a common inherited neurological disease. The discovery enables a genetic test for people with this subtype, which was previously unidentified and lacked an unknown genetic basis.
£2 million dwarfism study launched
An international team of researchers has been awarded £2 million to study the genetic causes of dwarfism and develop future treatments. The EuroGrow project aims to investigate the most common bone disorders that lead to short stature, with a focus on achondroplasia, pseudoachondroplasia, and spondyloepiphyseal dysplasia congenita.
Genetic roots of bipolar disorder revealed by first genome-wide study of illness
A genome-wide study reveals that variations in multiple genes contribute to the development of bipolar disorder. The researchers identified a promising target gene DGKH, which produces an enzyme involved in lithium's therapeutic effects. This discovery may lead to the development of new and more effective medications for bipolar disorder.
Gene malfunctions cause schizophrenia, depression symptoms in mice
Researchers have demonstrated that malfunctioning of the DISC1 gene causes symptoms similar to those of schizophrenia and depression in mice. Antipsychotic and antidepressant drugs alleviated these symptoms, supporting the theory that the two disorders share common genetic mechanisms.
New genes identified in childhood fever-related seizures
Researchers have localized two new genes associated with febrile seizures in infancy and childhood, which could improve the understanding, treatment, and prevention of this disorder. The study found that chromosome 3 was shared by all family members who had febrile seizures, while a modifier gene on chromosome 18 may also be involved.
How genetic malfunction causes a form of retardation
A study published in Neuron reveals that genetic mutations in SHP-2 lead to an imbalance in brain cell development, resulting in mental retardation. The researchers found that the mutation causes neurons to overgrow and inhibits glial cell formation, disrupting neural balance.
Researchers discover gene crucial for nerve cell insulation
A defect in one copy of the EGR2 gene disrupts myelin production, leading to peripheral neuropathy. Researchers have deciphered a key sequence essential to myelin assembly, paving the way for new therapies.
Gene mutations linked to hereditary lung disease
Scientists at Johns Hopkins have identified genetic culprits triggering a fatal lung disease. Mutations in telomerase genes were found in 8% of patients with inherited idiopathic pulmonary fibrosis (IPF), leading to short telomeres and cell death.
Common fungicide causes long-term changes in mating behavior
A study by researchers at the University of Texas at Austin found that female rats can detect changes in males' germline cells due to exposure to vinclozolin, leading them to avoid mating with those males. This avoidance behavior is linked to an epigenetic change that affects the male's fertility.
New protein implicated in autism
A new protein, CADPS2, has been identified as a potential cause of autism. Research found that mice lacking this protein exhibited autistic-like characteristics, including impaired social interactions and hyperactivity.
Vitamin D, variations in its receptor and prostate cancer
A study by Haojie Li and colleagues found that vitamin D deficiency is common among US men, affecting prostate cancer risk. Genetic variations in the VDR gene are also associated with an increased risk of developing prostate cancer.
Tiny, spontaneous gene mutations may boost autism risk
A study found that tiny spontaneous gene mutations are 10 times more prevalent in sporadic cases of autism spectrum disorders than in healthy control subjects. The researchers propose that these anomalies are primary causes of the disorder in most cases when present, and may contribute to disease equally across the sexes.
Autism gene identified by researchers at Yale working with a global research consortium
Researchers at Yale University identified a potential autism gene through a global genome scan involving 120 scientists from 50 institutions. The study found two genes linked to autism: neurexin 1 and a gene on chromosome 11, which may contribute to the disorder's susceptibility.
NSAIDs modulate biomarker panel for esophageal adenocarcinoma
Research suggests that nonsteroidal anti-inflammatory drugs (NSAIDs) may reduce the risk of developing esophageal adenocarcinoma in patients with Barrett's esophagus. The study found a significant protective effect in patients with multiple genetic abnormalities.
Study links attempted suicide with genetic evidence identified in previous suicide research
Researchers found a specific area of the genome on chromosome 2 associated with attempted suicide, bipolar disorder and major depression. The study identified a high degree of genetic similarity among family members with a history of attempted suicide and bipolar disorder.
Largest genomic search finds genes that may contribute to autism
An international team of researchers has identified one gene and a previously unidentified region on chromosome 11 as potential contributors to autism. The study, published in Nature Genetics, is based on genetic samples from nearly 1,200 families with two or more children who have autism.
Genome scan for familial autism finds two new genetic links
A five-year study involving over 1,200 families has identified two new genetic links to familial autism, with one gene associated with neurexin 1 and a previously unidentified region of chromosome 11 implicated. The findings suggest that autism has numerous genetic origins rather than a single cause.
Reversal of symptoms in an autism spectrum disorder
Researchers at the University of Edinburgh successfully reversed the symptoms of Rett Syndrome in a genetic mouse model, restoring normal brain function and mobility. The study's findings, published in Science Express, have significant implications for the treatment and potential cure of autism spectrum disorders.
Second gene discovered for recessive form of brittle bone disease
Researchers at NIH have found a second genetic defect causing previously unexplained forms of osteogenesis imperfecta (OI), a disorder weakening bones and resulting in frequent fractures. The affected gene contains information for P3H1 protein, crucial for refining collagen to its final form.
Gene found for rare disorder may reveal new pathway in mental retardation
Researchers have identified a novel biological pathway that may contribute to cases of mental retardation and autism, with mutations in two genes causing brain abnormalities and milder symptoms than classical forms of Cornelia deLange syndrome.
Severe form of 'enlarged prostate' disease discovered
Scientists have identified a severe form of benign prostatic hyperplasia (BPH) tied to a gene called JM-27. A blood test detects high levels of this protein, indicating more severe symptoms. This discovery could lead to earlier diagnosis and targeted treatment for bladder-related complications.
Families do not cause anorexia nervosa
An international group of eating disorders researchers states that families do not cause anorexia nervosa, contradicting Gisele Bundchen's claim. The data suggest a strong genetic component may be the root cause of this illness.
The G allele of the mu-opioid receptor gene is linked to craving for alcohol
A study found that individuals with a G allele of the mu-opioid receptor gene crave alcohol more than those with the A allele. This genetic marker may be related to how much a person craves alcohol in high-risk situations, potentially affecting treatment options.
A transplant in time
Researchers found that tissues taken from pig embryos between 42 days of gestation exhibit optimal growth potential and secrete factor VIII, a blood-clotting protein missing in hemophilic patients. This technique may one day help the body overcome genetic diseases.
Gene discovered for form of brittle bone disease
Researchers at NIH have discovered a gene responsible for a previously unexplained, fatal form of Osteogenesis Imperfecta. The CRTAP gene plays a crucial role in collagen production and is found to be nonfunctional in patients with this rare disorder, leading to deformed brittle bones.
Gene chip discovery may lead to individualized treatment for 5 hereditary liver diseases
Researchers have developed a gene chip that can detect genetic causes of jaundice in children and adults, potentially leading to personalized treatment options. The 'jaundice chip' is nearly 100% effective in detecting common mutations associated with inherited liver diseases.
Cambridge led team discovers gene mutation which prevents carriers from feeling pain
A team of Cambridge-led researchers has identified a genetic mutation that renders carriers pain-insensitive. The study reveals the role of the SCN9A gene in pain sensation and may lead to new, safer pain medications.
Treatment discovered for deadly childhood disease
A year-long study found that enzyme replacement therapy reduced the risk of death in children with Pompe disease by 99 percent. The treatment, which involves replacing the deficient enzyme acid a-glucosidase, was shown to improve respiratory performance and reduce the need for ventilators.
Origin of inherited pain disorder pinpointed
Researchers pinpointed paroxysmal extreme pain disorder (PEPD) to specific porelike sodium channels in peripheral nerve cells, highlighting the role of such channel disorders in inflammatory pain. Mutations in SCN9A gene were found to be responsible for at least two-thirds of PEPD cases.
Genetic variation: We're more different than we thought
New research reveals that at least 10% of human genes have variations in the number of DNA copies, influencing gene activity and function. This discovery changes the way scientists think about genetic diseases and human evolution.
Gene therapy for hereditary lung disease advances
Researchers have successfully tested a gene therapy to combat alpha-1 antitrypsin deficiency, a common hereditary disorder that causes lung and liver disease. The treatment showed no adverse effects and introduced the corrective gene into patients' blood, with some evidence of protein production.
Non-steroidal anti-inflammatory drug increases liver damage in mice carrying mutant human gene
Research on mice carrying a mutated human gene for alpha-1-antitrypsin deficiency found that a non-steroidal anti-inflammatory drug significantly increased liver damage. The study suggests that NSAIDs could exacerbate liver injury in people with alpha-1-AT deficiency, highlighting the need to avoid these drugs.
Genetic 'missing link' sheds light on sudden cardiac death
Researchers identify Caveolin-3 gene as key to understanding electrical imbalance in heart rhythm disorder, long QT syndrome. The mutation of this gene can trigger arrhythmia and increase risk of sudden cardiac death, highlighting the need for new treatment targets.
Women testing negative for familial breast cancer gene still at increased risk
Research suggests women testing negative for BRCA1 and BRCA2 genes are still at higher risk of breast and ovarian cancer. Regular screening from age 35/40 is recommended due to genetic modifier genes, increasing their risk by three times that of the general population.
Genetic disorder linked to rapid lung function decline in some World Trade Center rescue workers
A new finger-stick test for alpha-1 antitrypsin deficiency may help identify patients at risk of developing lung conditions, enabling early screening and treatment. The test shows that World Trade Center rescue workers with low levels of A1AT protein had faster decline in lung function compared to those with normal levels.
Insights into activity-dependent neuronal growth through RSRF-supported research
Researchers discovered that phosphorylation of MeCP2 at S421 increases transcription of genes required for experience-dependent brain maturation, including BDNF. This study reveals a complex regulatory loop between BDNF and neuronal activity in regulating MeCP2 function.
How Rett Syndrome mutation targets the brain
Researchers identified a key mechanism behind Rett Syndrome by pinpointing the S421 site on the MeCP2 protein responsible for its normal function. This specificity explains why mutations affecting that site target brain development, leading to delays in motor skills and speech loss.
Gene linked to autism in families with more than one affected child
A version of a gene has been linked to autism in families where more than one child is affected. The variant, which impairs brain development, was found in people with autism spectrum disorders and their parents, but not in controls.
Research could lead to new treatments for birth defects
Researchers identified IRF6 as a key gene causing cleft lip and palate disorders. The team also discovered that targeting this gene during pregnancy could lead to normal skin cell development.
New gene linked to bipolar disorder
A new gene, Slynar, has been linked to both depression and bipolar disorder, affecting around 10% of cases. Researchers hope the discovery will lead to new treatments for these conditions.
Hair-pulling disorder caused by faulty gene in some families
Researchers at Duke University Medical Center found two genetic mutations in the SLITRK1 gene linked to trichotillomania, affecting 3-5% of the population. The study validates a biological basis for mental illnesses and opens the door for genetic testing.
Effective treatments for panic disorder not reaching patients
Panic disorder affects up to 5% of the population, causing recurrent anxiety attacks and agoraphobia. Anti-depressants and cognitive-behavioural therapy (CBT) are effective treatments, but less than half of those in need receive care due to barriers such as diagnosis difficulties and insurance coverage issues.
Gene-on-gene interactions may influence risk for developing alcoholism
Researchers found that a variant of the ADH gene influences response to alcohol among non-Asians, potentially decreasing risk for alcoholism. The study suggests that genetic factors can impact an individual's ability to interpret other genes' effects.
Unique Huntington's study moves forward
A unique medical research study has begun evaluating 1,001 individuals at risk of developing Huntington's disease who do not know whether they carry the genetic defect. The PHAROS study aims to identify early signs of the disease and inform clinicians in designing better studies for new drugs.
Increased odds of rheumatoid arthritis in women smokers without genetic risk factor
Research found that smoking significantly increased the odds of developing rheumatoid arthritis in older Caucasian women without a genetic risk factor. The study, which included 115 postmenopausal women, revealed that tobacco smoke exposure doubled the risk of disease development.
Different genes may cause autism in boys and girls
Researchers discovered that different genes may be responsible for causing autism in boys than in girls, with varying degrees of severity. The study also found evidence for multiple genetic subtypes of autism, including male versus female and early versus late onset forms.
New genetic findings add to understanding of OCD
Researchers have found a significant association between OCD patients and genetic variations on the SLC1A1 gene, which regulates glutamate flow in brain cells. The study suggests that this gene may be a primary candidate for OCD, potentially leading to improved understanding and treatment of the disorder.