Articles tagged with Genetic Disorders
Research reveals that VCP gene mutations disrupt energy production in cells, leading to mitochondrial dysfunction and increased vulnerability. This study sheds new light on the role of VCP in multiple neurological disorders.
Researchers have identified a genetic cause of developmental delay in Amish individuals, characterized by learning disabilities and hyperactivity. The HERC2 gene mutation leads to an unstable protein that causes similar symptoms to Angelman syndrome.
The study found that planar cell polarity genes Celsr3 and Fzd3 control the formation of complex neural networks in the gut. Inactivation of these genes resulted in disorganization of neuronal projections, slower gut transit time, and abnormal colonic motility.
Heavy drinkers show enhanced brain acetate metabolism, which may provide an energetic reward to compensate for drops in blood glucose levels. Additionally, planar cell polarity genes guide the formation of gut neurons, and their dysfunction is linked to gastrointestinal motility disorders.
After over 20 years, a team led by Professor Merlin Crossley has found the genetic puzzle piece for hemophilia B Leyden, a rare disorder that improves symptoms after puberty. The breakthrough demonstrates the importance of persistence and curiosity in scientific research.
Researchers at Mayo Clinic discovered the first dystonia gene linked to an African-American family, paving the way for improved diagnosis and treatment. The study identified a genetic abnormality that led to muscle spasms and abnormal posture in affected individuals.
A study by Princeton University researchers suggests that heritability in humans may not be missing after all, but rather hidden due to limitations in modern research tools. By using yeast cells as a model, the team detected DNA variations associated with traits and characteristics, indicating that most heritability is accounted for.
Researchers have identified novel gene variants linked to Behçet's disease, a chronic condition causing painful ulcers and brain inflammation. The study also reveals multiple independent genetic risk regions within the HLA region, which could lead to better understanding and treatment options for this devastating illness.
Researchers at LSU Health Sciences Center have identified a protein, fatty acid transport protein 4 (FATP4), that protects retinal photoreceptor cells from degeneration. The study suggests FATP4 may be a therapeutic target for inherited retinal degenerative diseases and age-related macular degeneration.
Researchers have designed a guideline for physicians and patients with Androgen Insensitivity Syndrome (AIS), a rare condition that prevents tissues from responding to male hormones. The guideline includes follow-up protocols from birth to adulthood, therapy options such as hormone replacement therapy, and more.
Researchers identified two new genes associated with severe early-onset heart rhythm disorders, expanding the list of culprits that can cause sudden cardiac death. Exome sequencing revealed de novo mutations in calmodulin genes, which impaired calcium binding and led to abnormal electrical activity in the heart.
Scientists at Johns Hopkins University and Tel Aviv University found that mutations in the NHE9 gene lead to a profound loss of function in an ion transporter, which may trigger seizures. This discovery could lead to new diagnosis or treatment options for autism patients.
Researchers at the University of Montreal used genome-wide analysis to identify a previously unknown type of adrenal insufficiency in two children. The treatment regime eliminated the need for fludrocortisone treatment and reduced lifetime risk of hypertension, saving $10,000 per patient.
A high-resolution map of gene regulatory elements in the brain has been created, identifying thousands of enhancer sequences that amplify gene expression. The atlas provides critical information for studying neurological disorders and brain development.
Researchers identified 25 additional copy number variations associated with autism, which could serve as predictive markers. The study found that these variants have a strong effect in raising an individual's risk for autism and may be incorporated into clinical tests.
Researchers have identified numerous new genes associated with autism spectrum disorder using high-throughput sequencing technology. This discovery confirms that the genetic origins of autism are complex and may involve hundreds of mutations.
Researchers have identified a new mutation in the Alpha-1 Antitrypsin Deficiency gene that could lead to better diagnosis and treatment of the disease. The finding extends understanding of Alpha-1 at the molecular level, potentially leading to new drug development.
Researchers at the Douglas Mental Health University Institute have identified a new genetic process that could lead to novel treatments for neurodevelopmental disorders. Genetic mutations affecting brain development can occur in genes of unknown function, suggesting a previously overlooked pathway in brain development.
A study cataloging genetic variants in healthy individuals reveals approximately 400 damaging DNA variants and a 1-in-10 risk of developing a genetic disease. The research highlights the complexity of genetic predispositions and raises ethical concerns about incidental findings.
Scientists identify novel disorder SPARCA1 associated with severe childhood ataxia and cognitive impairment due to altered beta-III spectrin gene. The study highlights the crucial role of spectrin in brain function beyond the cerebellum.
Research identified UBE3B as the gene responsible for a rare developmental disorder in children, causing brain abnormalities and reduced growth. The study used a combination of DNA sequencing and mouse models to confirm the link between the gene mutation and the disorder.
A new factor of genetic susceptibility to Alzheimer's disease has been identified through a large-scale international study. Mutations in the TREM2 gene on chromosome 6 are associated with a five times greater risk of developing late-onset Alzheimer's disease, according to researchers.
A new study by Columbia University researchers identifies two genetic networks affected in schizophrenia, which also show a connection to autism. The analysis reveals that many genes mutated in schizophrenia are organized into these networks, involved in processes like axon guidance and chromosomal modification.
Researchers identified a family with two of three children affected by CDD, both carrying a rare DGAT1 gene mutation. The study suggests targeting DGAT1 could cause severe diarrheal disorder in individuals with the mutation.
Research reveals antagonistic pleiotropy is very common in yeast, where genes can harm or benefit depending on environment. The study's findings have broad implications for human genetics and disease treatment.
A large genetic replication study found compelling evidence that the chromosome 3p21.1 locus contains a common genetic risk for bipolar disorder, specifically the PBRM1 gene. This replication distinguishes the heritable risk for bipolar disorder and schizophrenia, contrasting with previous studies.
Researchers found that small genetic variations can accumulate and contribute to the risk of autism spectrum disorders. In families where only one child has ASD, 40% of the risk is inherited, rising to 60% in families with multiple affected children. These findings provide new insights into the genetic factors underlying ASD.
Researchers have identified genetic variations in genes associated with bipolar disorder I and II, providing new insights into the complex biochemical pathway involved. The study found associations between variants in PDE10A, DISC1, and GNAS genes and an increased risk of developing the mental illness.
A team of researchers has discovered a genetic defect in the RMND1 gene linked to severe neurodegenerative disorders. The study reveals mutations in this gene can lead to early death in infants and has implications for understanding later-onset neurological diseases.
Researchers identified molecular pathway associated with schizophrenia, potentially leading to new treatment options. The study found that a protein called Serca2 is elevated in people with schizophrenia and those with a rare genetic disorder, suggesting a novel therapeutic target.
A recent study published in The Lancet found that up to 55% of cases of severe intellectual disability are caused by new, non-inherited genetic mutations. This discovery suggests a low risk of passing on the disorder to further children and highlights the potential for whole-genome sequencing as a diagnostic tool.
Researchers have developed a new analysis framework to help clinicians spot 'medically actionable findings' from genetic tests, streamlining the process and providing more timely results. The approach classifies genetic variations into three categories, prioritizing those linked to treatable or preventable conditions.
Wolfram syndrome is a rare disorder that causes diabetes, hearing and vision loss, nerve cell damage, and early death. Researchers have identified a mechanism related to mutations in the WFS1 gene that affects insulin-secreting beta cells, which could lead to new treatment targets for the disease.
Researchers from the University of Montreal discovered the genetic cause of hereditary spastic ataxia, a rare disease affecting coordination and movement. The VAMP1 gene mutation is responsible for the condition, which can lead to debilitating symptoms if left untreated.
The NCAN gene plays a major part in how manias manifest, being closely correlated with manic symptoms but not depressive episodes. Researchers found that knockout mice lacking the NCAN gene exhibited increased hyperactivity and reward-seeking behavior, responding well to lithium therapy.
A team of scientists identified a gene that is vital to the transport of vitamin into cells, leading to early diagnosis and potential treatment for a rare genetic disorder. The discovery sheds light on how vitamin B12 functions in the body.
A new study by Dr. Inti Pedroso and colleagues has identified key genes and neural signaling pathways involved in the development of bipolar disorder. The findings, published in Biological Psychiatry, provide insight into the complex biology of the disorder and highlight potential new avenues for treatment.
Two GWAS studies have identified possible associations with genes related to obsessive-compulsive disorder (OCD) and Tourette syndrome. The studies found potential links to BTBD3, DLGAP1, COL27A1, and other SNPs, but further research is needed to confirm these findings.
Researchers identified a key gene mutation causing Cornelia deLange syndrome, a childhood genetic disease. Mutations in the HDAC8 gene disrupt cellular recycling of cohesin, leading to impaired gene transcription and embryonic development.
Researchers at St. Jude Children's Research Hospital have discovered a new mechanism for eliminating unneeded proteins in cells, which could lead to new treatments for rare blood vessel disorders. The study reveals how a protein called Glomulin disrupts the ubiquitin system, marking potentially thousands of proteins for destruction.
The Johns Hopkins Center for Inherited Disease Research has received $101 million in research funding from the National Institutes of Health. The center, part of the McKusick-Nathans Institute of Genetic Medicine, will support the genetics community in finding genes that contribute to disease through DNA genotyping and sequencing.
Scientists have identified a new gene, RORA, linked to post-traumatic stress disorder (PTSD), suggesting that it may play a role in the development of the condition. The study found a significant association between variations in the RORA gene and PTSD, highlighting a potential new avenue for research on how the brain responds to trauma.
Researchers have identified the ATP1A3 gene as the primary cause of Alternating Hemplegia of Childhood in the majority of patients. This discovery was made possible by next-generation sequencing and an international database of affected individuals, providing a new tool for diagnosis and potentially effective therapies.
A novel gene therapy approach has been developed to increase frataxin protein levels in Friedreich's ataxia patients. The method, using TALE proteins, successfully boosted frataxin production by 2-3 fold, offering a potential solution for treating the genetic disorder.
A study published in PLoS One found that individuals with Williams syndrome exhibit abnormal hormonal responses to emotional triggers, particularly increased levels of oxytocin and arginine vasopressin. This may help understand human social behavior and inform treatment for related disorders.
Researchers at UCLA have combined gene expression and peripheral blood analysis to identify potential precursors of autism. The study found strong links between genetic variations in specific regions of the genome and altered expression patterns in genes related to nervous-system function.
A pioneering study finds genetic changes that explain why one person has an autism spectrum disorder (ASD) and another does not. The research identifies potential new regions where copy-number variants are associated with ASDs and shows a significant impact of these variants on gene expression.
Researchers at MIT used zebrafish to study genes associated with autism, finding that nearly all produced brain abnormalities when deleted. The study identified two key genes, kif22 and aldolase a, which may contribute to the development of neurological disorders.
Researchers studied people with and without Williams syndrome to gauge emotional response through hormone release. The study found that oxytocin levels increased in response to music, particularly Elvis songs, suggesting a link between the hormone and emotional experience.
Researchers use green fluorescent protein to detect defective genes in children with glycosylation disorders, enabling the development of targeted therapies. The tool helps identify genes causing intellectual disability, digestive problems, seizures, and low blood sugar in children.
Researchers at Mayo Clinic identified altered gene expression levels in over 2,000 genes associated with neurodegenerative diseases. These genetic variants contribute to disease development and progression, providing potential targets for new therapies.
A study published in PLOS ONE reveals that exposure to psychoactive pharmaceuticals in water can induce autism-like gene expression in fathead minnows, specifically in those with genetic predisposition. The findings suggest a potential environmental trigger for autism spectrum disorder in vulnerable individuals.
Researchers identified 20 distinct mutations in a specific gene causing Familial Glucocorticoid Deficiency (FGD), leading to cortisol production issues. The antioxidant gene NNT provides a new mechanism for this adrenal disease, potentially opening doors to treating other diseases.
Researchers discovered mutations in the RAD21 gene that cause mild cognitive and physical impairments, similar to cohesin disorders. The study suggests children with mild symptoms may go undiagnosed.
Research identifies CDKN1C gene mutation as cause of IMAGe syndrome, a rare developmental disorder affecting fetal growth and organ size. The study also reveals the gene's role in regulating cell growth and division, with implications for understanding tumour development.
A team of scientists has identified the genetic cause of Hamamy syndrome, a rare birth defect marked by abnormal facial features and heart defects. The discovery links the disease to a mutation in the IRX5 gene, which is highly conserved across animals.
Researchers identified C5ORF42 as the gene causing Joubert Syndrome in French Canadian families in the Lower St. Lawrence region of Quebec. The study, published in The American Journal of Human Genetics, provides a genetic basis for the syndrome and allows family members to assess their children's genetic risks with a simple DNA test.
Researchers at UF will study glycogen storage disease type III and its potential link to high blood pressure and other common conditions on the Faroe Islands. The center aims to provide insights into a rare genetic disorder and potentially change treatment approaches.
Positive results from animal models and initial clinical trial results show promise for retinal gene therapy to treat inherited diseases. Researchers have developed efficient and safe viral delivery systems to introduce therapeutic genes into photoreceptor cells.
Researchers found a deletion in the TMLHE gene that may contribute to milder forms of autism, affecting about one-half of one percent of autism cases. The study suggests that dietary carnitine levels from birth to age three may modify the risk of autism.