Articles tagged with Genetic Disorders
Researchers discovered that genetic material regulators beyond the SHOX gene itself play a crucial role in developing growth disorders. A study of 893 patients with short stature found that enhancer mutations, far from the affected gene, can cause the same clinical symptoms as direct gene mutations.
The study uncovered the unlikely genetic suspect, FOXC1, which critically contributes to Dandy-Walker malformation, a brain defect causing mental retardation and motor delays. The discovery provides new mechanisms and potentially improves treatment for the disorder, offering insights into embryonic brain development.
Researchers from Université de Montréal and McGill University have engineered an enzyme that resists harmful agents like methotrexate, a breakthrough in treating genetic diseases. The study's discovery provides new avenues for therapies to combat conditions like leukemia.
A study analyzing rare genetic disorders suggests that maternal and paternal genes continue to interact well into childhood, potentially influencing the pace of growth and sexual maturity. This ongoing interplay may be responsible for humanity's unusual extended childhood and unique life history patterns.
Researchers at Mayo Clinic have discovered a mutated gene linked to restless legs syndrome, affecting 5-11% of the population. The study suggests that this genetic mutation may be a key factor in understanding the condition, which causes unpleasant sensations in the legs at rest.
A study at Penn State has identified over 16,000 active genes in mouse brains during embryonic development and post-natal stages. These genes are linked to cognitive and sensory abilities and may hold the key to developing treatments for neurological disorders such as autism and Alzheimer's disease.
Researchers at Baylor College of Medicine have identified a single gene mutation responsible for catastrophic epilepsy, a condition marked by severe muscle spasms, persistent seizures, and mental retardation. The discovery provides a new model for studying the disease and has sparked hope for potential treatments.
Researchers found rare copy number variations in genes of children with autism spectrum disorders but not healthy controls. The study identified two novel genes, BZRAP1 and MDGA2, thought to be important in synaptic function and neurological development.
Researchers identified a small set of genes responsible for mental retardation by comparing human DNA with mouse genome disruption data. The study found that genomic deletions and duplications frequently cause the disorder, enabling genetic testing and diagnosis.
Researchers at Baylor College of Medicine have identified the FOXF1 transcription factor gene as responsible for a rare and deadly developmental disorder of the lungs, alveolar capillary dysplasia with misalignment of pulmonary veins. The discovery may lead to easier diagnosis and counseling for families affected by the disease.
Researchers have successfully generated genetically corrected blood cells from skin cells of Fanconi anemia patients using gene therapy and cell reprogramming techniques. This breakthrough could lead to the development of a new treatment for the disease, which affects the bone marrow and causes a lack of white blood cells.
A recent study in PLoS Biology has identified the crucial role of cohesin proteins in human gene expression, shedding light on Cornelia de Lange syndrome. The research found that dysregulation of cohesin affects hundreds of genes, leading to unique gene expression profiles.
Researchers at UCLA have discovered a link between a variant of the CACNA1G gene and increased autism risk in boys. The study found that nearly 40% of the population carry the common variant, which increases the correlation to autism spectrum disorder.
Researchers identify protein-protein interaction as a key factor in vision loss among people with genetic diseases, including Bardet-Biedl Syndrome. The study provides a blueprint for unraveling variations in other genetic diseases.
A UNC-Duke study found that impaired brain plasticity in mice with Angelman syndrome is linked to severe cognitive deficits. The researchers discovered a latent ability for brain cells to express plasticity, which could lead to new treatments or a cure for the disorder.
The March of Dimes has awarded a $250,000 prize to Kevin P. Campbell and Louis M. Kunkel for their pioneering work identifying the genes and proteins that cause muscular dystrophy. Their research has led to better diagnostic tools and potential treatments, improving the lives of over 250,000 Americans affected by the disorder.
A recent genetic study has confirmed the immune system's role in narcolepsy, revealing that autoimmunity plays a crucial part in the disorder. The study found unique variants of genes HLA-DQB1*0602 and TCRA associated with narcolepsy-cataplexy.
Researchers have identified a genetic variant that impairs communication within the brain, increasing the risk of schizophrenia and manic depression. The study found altered brain activity patterns, particularly between the dorsolateral prefrontal cortex and other regions.
Two studies identify genes that may contribute to autism, including a region of chromosome 5 associated with neuronal cell-adhesion molecules. These findings suggest a significant role for genetics in the development of autism, potentially leading to new treatments.
Researchers at UCLA have identified a gene mutation responsible for short-rib polydactyly syndrome, a deadly disorder that kills newborn babies. The discovery will allow for earlier testing of embryos at risk for the disease, potentially saving lives and reducing the emotional burden on families.
Researchers at Vanderbilt University Medical Center discovered that the clinically available drug flecainide prevents potentially lethal arrhythmias in patients with CPVT. In two patients, flecainide prevented exercise-induced ventricular arrhythmias and allowed them to live normal lives.
A groundbreaking study at Brandeis University has shed light on a crucial step in the complex process of genetic encoding for the first time. The researchers report that they were able to crystallize a large complex of a macromolecular machine in the human cell and determine its structure, zeroing in on the process of RNA splicing.
Dr. Roberta A. Pagon, a renowned medical geneticist, has received the March of Dimes/Colonel Harland Sanders Award for her groundbreaking work in developing the public database genetests.org, which helps doctors analyze genetic tests for making informed medical decisions.
Recent studies in epigenetics provide new understanding of how environmental factors influence brain function and behavior, potentially explaining the complex nature of mental illness. Epigenetic changes can be long-lived and influenced by life experiences, psychotropic drugs, and psychotherapy.
Scientists at Johns Hopkins Medicine used genome scanning to locate a mutation in the PALB2 gene, responsible for initiating hereditary pancreatic cancer. The discovery highlights the value of personalized genome sequencing in identifying disease-causing mutations.
Researchers at UMMS discovered a new gene whose mutations cause familial amyotrophic lateral sclerosis (ALS), a fatal neurological disorder. The FUS/TLS gene mutation is estimated to account for 5 percent of inherited ALS cases and implicate defective pathways previously identified in other genetic forms of ALS.
Researchers identified a novel gene, FUS/TLS, associated with inherited amyotrophic lateral sclerosis (ALS), the fourth gene implicated in familial forms of the disease. Mutations in this gene lead to abnormal protein deposits in motor neurons and are linked to varying inheritance patterns and severity.
A specific gene called protein kinase C beta (PKC beta) plays a crucial role in the weight-gain response to a high-fat diet. Mice genetically engineered to lack PKC beta showed minimal health effects and resisted fat-induced obesity, insulin resistance, and liver damage. The study suggests that blocking this gene could be a therapeutic...
Nearly all US babies are now screened for 21+ life-threatening disorders, thanks to increased mandates and advocacy efforts. This expansion has significantly improved public health outcomes.
Researchers at the University of Montreal have identified gene mutations in the SYNGAP1 gene that affect learning and memory in children with non-syndromic mental deficiency. The study found that three percent of affected children had new deleterious mutations, leading to delays in language and mental development.
Researchers suspect a novel gene is causing restless legs syndrome in a large family study, with 30 relatives affected and 60% female prevalence. The discovery could lead to breakthroughs in understanding the disorder and developing new treatments.
Researchers identified three genetic variants associated with delusions in people with schizophrenia, located within the neuregulin 3 gene on chromosome 10. The study suggests that this gene may contribute to the development of delusions and other symptoms of the condition.
Researchers at CAMH have detected evidence that DNA is not the only carrier of heritable information, with epigenetic factors playing a significant role. This finding challenges traditional genetics principles and may provide new insights into human disease causes.
A large-scale study of 9 million Swedish individuals reveals that bipolar disorder and schizophrenia share common genetic causes, with heritability rates of 64% and 59%, respectively. This finding challenges the long-held distinction between the two conditions, suggesting a reappraisal of their diagnostic entities.
Researchers at McGill University and the MUHC have identified a gene crucial for vitamin B12 metabolism, shedding light on a rare genetic disorder. The discovery may lead to earlier diagnosis and treatment options for patients with cblF combined homocystinuria and methylmalonic aciduria.
A new pharmaceutical developed by McGill University researchers may allow PKU sufferers to eat a normal, protein-rich diet, avoiding the need for severe protein restrictions. The treatment, which involves enzyme therapy, aims to reduce phenylalanine levels in the blood and alleviate symptoms such as agoraphobia.
A Mayo Clinic-led international consortium discovered a genetic defect in the dynactin complex that may help explain neurodegenerative diseases like Parkinson's and amyotrophic lateral sclerosis. The mechanism implicated in Perry syndrome, a rare disorder, may also shed light on common depression and sleep disorders.
Decreasing FKBP12 gene activity in mice disrupted neuron-to-neuron communication, leading to enhanced long-term potentiation and repetitive behaviors. The study provides insight into the molecular mechanisms underlying neurodevelopmental disorders such as autism spectrum disorder and obsessive-compulsive disease.
Researchers at UCSF Ernest Gallo Clinic and Research Center have identified a DNA sequence variation on chromosome 15 associated with the level of response to alcohol. This finding could signal the genetic factors that affect alcohol abuse, and may help develop targeted treatments.
Researchers identified 11 new gene sites associated with cholesterol and triglyceride levels, bringing the total to 30 lipid-associated genes. Common variations in these genes can significantly influence blood lipid levels, potentially identifying individuals at higher risk for heart disease.
A UCLA study shows that microscopic crystals in the inner ear form sound and gravity sensors through cilia movement. The research provides new clues for treating vertigo and hearing disorders related to cilia function, offering a potential gene target for therapy.
Researchers at Indiana University have created a comprehensive map of genes likely involved in bipolar disorder, identifying hundreds of genes that contribute to the illness. The study also lays the groundwork for personalized treatments and preventive measures using genetic risk scores.
Researchers have identified the CNTNAP2 gene as a key player in childhood language disorders, with variants linked to specific language impairment (SLI) and delayed language development in children with autism. The study provides new insights into the molecular basis of language development and its relationship to autism.
Scientists at the University of Liverpool will use models and tissue samples to understand ochronosis development. A potential therapy may be developed if the underlying mechanisms are understood, reducing arthritis risk for Alkaptonuria sufferers.
Researchers at Medical College of Georgia identified a new gene, chromodomain helicase DNA binding protein 7 (CHD7), responsible for some puberty disorders, including idiopathic hypogonadotropic hypogonadism (IHH) and Kallmann syndrome. The study found that CHD7 mutations account for about 6% of IHH and Kallmann syndrome cases.
Researchers from Uppsala University have discovered a mechanism that silences several genes on a chromosome domain, leading to the genetic disorder Beckwith-Wiedemann syndrome. The long Kcnq1ot1-RNA molecule mediates silencing by recruiting enzymes that modify DNA-binding proteins, protecting the silenced domain during cell division.
A new genetic association study found associations between six mouse genes and specific human anxiety disorders, including social phobia, generalized anxiety disorder, and panic disorder. The study suggests that these genes may play a role in predisposing individuals to developing an anxiety disorder.
Researchers used a new genetic screening method, MLPA, on children with autism spectrum disorders to identify known genetic causes of cognitive impairment. The study found efficient identification of well-known genetic disorders and novel genetic changes contributing to ASDs, such as microduplications in chromosomes 15 and 22.
Researchers have identified RMI2, a novel protein essential for genome stability and DNA repair in Bloom's syndrome. The study sheds new light on the disease's underlying mechanisms.
Researchers at the University of Iowa and France have discovered a gene variant that causes sinus node disease, a potentially fatal heart rhythm disorder. The study found that variants in the ANK2 gene result in dysfunction in the protein ankyrin-B, leading to variable heart rates and bradycardia.
Research finds disabled gut cells linked to Crohn's disease, with altered genetic activity leading to increased hormone production. The study suggests a potential role for autophagy and Atg16L1 in Paneth cell function, shedding light on the complex mechanisms behind the inflammatory bowel disorder.
A study found a link between a chromosomal aberration at 1q21.1 and various developmental disorders in children, including mental retardation, growth issues, seizures, autism, and heart defects. The researchers suggest that the aberration may contribute to subtle disorders in carriers who appear unaffected.
A gene controlling blood vessel differentiation during embryonic development has been linked to a brain disorder that causes stroke. The study found that the gene, Notch, can induce and reverse the disease's progression in mice, offering new insights into its molecular mechanisms.
Researchers identified genes that show statistical association with specific anxiety disorders, such as panic disorder and social phobias. The study found that environmental factors can trigger an anxiety disorder more easily in people with a genetic predisposition.
The study provides an accurate picture of XXYY syndrome, identifying unique medical and psychological characteristics, including cardiac abnormalities, dental problems, and learning disabilities. Treatment recommendations focus on targeted therapies for behaviors, emotional problems, and community services to support independent living.
A large genetic analysis implicates machinery involved in sodium and calcium balance in brain cells in bipolar disorder. Variation in two genes showed the strongest association with bipolar disorder.
A novel mutation in the nephronophthisis 4 (NPHP4) gene has been identified as a potential cause of cone-rod dystrophy in standard wire-haired dachshunds. This discovery raises hopes for developing treatments for humans with similar eye disorders.
Congenital Tufting Enteropathy (CTE) is a rare, congenital disorder affecting infants, causing severe diarrhea and growth failure. Researchers identified the Epithelial Cell Adhesion Molecule gene as the cause of CTE.
The Alzheimer's Disease Research Center at Washington University School of Medicine will lead a six-year, $16 million international collaboration to study inherited forms of Alzheimer's disease. Researchers hope to identify biomarkers in individuals with known mutations to shorten diagnosis time and develop new treatments.
A recent study published in Biological Psychiatry found four chromosomal regions linked to schizophrenia and bipolar disorder risk factors, suggesting that these disorders may represent different genetic subtypes. The discovery highlights the complexity of psychiatric diagnoses and provides new insights into potential treatment targets.