Articles tagged with Genetic Disorders
A collaborative effort by Boston University researchers has discovered the TFAP2A gene is linked to Branchio-Oculo-Facial syndrome (BOFS), a disorder marked by clefting, skin anomalies, and eye abnormalities. The study's findings may lead to more precise diagnostic testing and suggest new research directions.
Recent research has identified seven LRRK2 gene mutations associated with Parkinson's disease, including a rare mutation that doubles the risk in ethnic Chinese. The findings suggest that genetic influences passed down through generations can significantly increase susceptibility to the disease.
Researchers identified a genetic defect affecting energy production in muscles of children with autism spectrum disorders, leading to muscle weakness. The study found that 65% of the children had defects in oxidative phosphorylation, highlighting the importance of understanding how genes impact mitochondrial function.
Researchers discovered a genetic cause for a rare form of inherited iron deficiency anemia, which may provide insights into iron deficiency in the general population and suggest new treatment approaches. The study identified a gene mutation in the TMPRSS6 protein, leading to excessive hepcidin production and impaired iron absorption.
Scientists identified the MMADHC gene responsible for a rare genetic disorder, isolated and combined homocystinuria and methylmalonic aciduria. The research provides clues to how vitamin B12 works in the body and offers earlier diagnosis and treatment options for the serious disease.
Studies find that rare genetic deletions and duplications in schizophrenia patients disrupt genes involved in brain development, potentially implicating hundreds of genes. The findings support a new approach for discovering genes associated with the disorder.
A team of University of Michigan scientists has identified a possible link between genetic mutations and toxic substance exposure in the development of motor neuron disease. The study found that abnormal protein changes caused by organophosphate exposure may contribute to the disease, offering new leads for diagnosis and treatment.
Dr. Peter H. Byers has received the March of Dimes/Colonel Harland Sanders Award for Lifetime Achievement in Genetics for his groundbreaking research on collagen gene mutations and their role in inherited disorders such as Ehlers-Danlos syndrome and osteogenesis imperfecta. His work has significantly advanced our understanding of these...
Researchers at Johns Hopkins have discovered that Bardet-Biedl syndrome and Meckel-Gruber syndrome share the same molecular underpinnings, suggesting a continuum of one disease. This finding could lead to more accurate diagnoses and improved patient management.
Researchers at the University of Manchester have successfully treated mice with Treacher Collins syndrome, a rare genetic disorder, by preventing premature cell death. The breakthrough could lead to early treatment of at-risk babies in the womb.
A genetic defect in the p22phox protein causes a severe immune deficiency in humans, similar to chronic granulomatous disease (CGD). The study found that mice without this protein also develop a severe balance disorder due to the loss of gravity-sensing crystals in the inner ear.
Researchers studying 19 pairs of identical twins discovered that they had virtually identical DNA but still exhibited small genetic variations. These findings may help explain why one twin can develop a disorder while the other remains healthy.
The study found that mice lacking HOXA11 had no uterosacral ligaments, highlighting the gene's importance in their development. In women with pelvic organ prolapse (POP), decreased HOXA11 expression was linked to weakened connective tissue and increased levels of a degradation mediator.
Researchers at the University of Manchester are using zebrafish to investigate the causes of Lowe syndrome, a rare genetic disorder affecting only boys. The team aims to identify key factors, including the gene OCRL1, and explore potential treatments for the condition.
Researchers discover hereditary hemochromatosis is a liver disease caused by a genetic defect in the liver that leads to increased iron absorption. The study reveals that the liver cells make an iron hormone called hepcidin to regulate iron uptake, but a mutated HFE gene reduces its production, leading to iron overload.
The Trainor Lab has demonstrated that inactivating the p53 gene can prevent Treacher Collins Syndrome, a rare craniofacial disorder. By inhibiting the p53 protein or inactivating the gene, neural crest cells can survive and form normal craniofacial structures.
Research reveals hereditary hemochromatosis is more prevalent among men with the genetic marker C282Y, posing a significant risk for liver fibrosis and joint disease. The study emphasizes the need for careful clinical assessment to detect the condition in high-risk individuals.
A study found that providing a biological and genetic explanation for anorexia nervosa reduced blame towards individuals with the disorder. The research suggests that disseminating accurate information about the underlying causes of anorexia can help decrease stigma.
Researchers at Vanderbilt University developed an RNA interference therapy that corrects a genetic disorder causing growth deficiency in mice. The therapy successfully restored normal growth and function to the pituitary gland, which produces growth hormone.
Researchers have discovered 156 new likely imprinted genes in the human genome, including those linked to cancer, diabetes, and autism. The findings offer clues to better disease prevention and management.
A survey of 740 Taiwanese men found a statistically significant positive association between smoking and moderate to severe androgenetic alopecia, a common type of hair loss in men. The study suggests that smoking may destroy hair follicles or damage the papilla that circulates blood and hormones to stimulate hair growth.
Researchers at Baylor College of Medicine found that inheriting two genetic mutations for epilepsy can actually reduce seizure frequency and severity. This discovery could lead to new gene-directed therapies for treating epilepsy.
A new Mayo Clinic study presents a chromosome test called 'FISH' as a better method for identifying genetic abnormalities in patients with plasma cell malignancies. This improved analysis may help physicians assess patient prognosis and treatment response more accurately.
Genetics experts at The Children's Hospital of Philadelphia will investigate Ring chromosome 20 syndrome, a rare disorder causing severe epilepsy and mental retardation. The study aims to identify patients, establish cell lines and analyze patterns of gene expression to guide future treatments.
A study has identified genetic variants associated with premenstrual dysphoric disorder (PMDD), a severe form of PMS. Women with specific variants in the estrogen receptor alpha gene were more likely to experience PMDD, suggesting hormonal factors play a key role in its development.
Researchers found a metabolic state that enables worms to slow their rate of aging despite cellular defects. The study's findings could contribute to the creation of gene therapies to reverse or lessen the effects of mitochondrial diseases.
Researchers have identified a pattern of fetal mRNAs detectable in pregnant women's blood, which could serve as a baseline for diagnosing genetic diseases. This detection method has the potential to replace invasive prenatal procedures, offering a new approach to monitoring fetal health.
Researchers have identified the specific gene implicated in Job's syndrome, a rare immunodeficiency disorder characterized by harmful bacterial and fungal infections. The discovery could benefit treatment for other immunodeficiency diseases and provide new leads for therapies.
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.
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.
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 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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.