Articles tagged with Genetic Disorders
A new mutation in the ITGA10 gene has been identified as a cause of dwarfism in two dog breeds, Norwegian Elkhounds and Karelian Bear Dogs. The study reveals that the mutation affects bone growth and can lead to skeletal abnormalities.
Researchers identify a rare genetic disorder, cblX, linked to Vitamin B12 metabolism, which can cause severe health problems. The discovery was made possible by studying a Colorado boy named Max Watson and his family, who participated in the study.
A new gene mutation in FBXL4 has been linked to rare but devastating mitochondrial disorders. The discovery enables genetic testing for affected families, providing them with peace of mind and potentially leading to new treatments for the disorders.
A blood test developed by MGH researchers can detect levels of mutant huntingtin protein, which causes Huntington's disease. The assay uses HTRF technology and may predict symptom onset or progression.
A genetic mutation in coagulation factor 5 is identified as the cause of a severe hereditary bleeding disorder in East Texas. The mutation leads to the production of a truncated form of FV, which forms a complex with tissue factor pathway inhibitor-α that inhibits coagulation pathways.
A recent study found that children with amplified chromosome 21 are at higher risk of treatment failure, but not worse outcomes, than those without the genetic abnormality. Recognizing this amplification could lead to improved cure rates in low-risk patients treated aggressively.
A recent study published in Nature Genetics has discovered substantial overlap of genetic risk factors among bipolar disorder, major depressive disorder, and schizophrenia. This finding may lead to the development of new therapeutic avenues for treating these conditions.
Researchers have determined that five major mental illnesses are traceable to the same common inherited genetic variations, with schizophrenia and bipolar disorder showing the highest overlap. Common genetic variation accounted for 17-28% of risk for the illnesses.
University of Washington researchers have made significant progress in linking a rare form of epilepsy called epilepsy aphasia to genetic mutations in the GRIN2A gene. This breakthrough finding may lead to new diagnostic tools and treatments for patients with this condition, which is characterized by seizures and speech abnormalities.
Researchers at HudsonAlpha are using genomic sequencing to identify genetic links to childhood genetic disorders, aiming to provide clearer explanations and better treatments for affected children. The study also explores the impact of genetic testing results on individuals and develops resources to facilitate helpful communications.
A new study analyzed DNA from over 2,100 children with autism and found evidence of a recessive, inherited genetic contribution in cases with significant intellectual disability. The research suggests that runs of homozygosity, or long strands of identical DNA, may harbor deleterious variants that increase disease susceptibility.
A new study reveals that all children with Crohn's disease have a common enterovirus in their intestines, suggesting an important connection between the virus and the chronic inflammatory intestinal disorder. The findings could pave the way for a better understanding of the disease's cause.
A zebrafish model reveals defects in motor neuron transport leading to CMT's progressive weakness and long-term pain. Researchers seek funding to identify new treatments for the condition.
Two papers reveal key domains of the MECP2 protein responsible for Rett Syndrome, including a methyl binding domain and an NCoR/SMRT Interaction Domain. Understanding these domains is crucial for developing effective treatments.
Researchers have identified the TTC7A gene as the cause of multiple intestinal atresia (MIA), a rare and life-threatening condition. The discovery will enable the development of prenatal diagnostic tests for pregnant women and screening tests for carriers, offering new hope for affected families.
Research on mice reveals that over-producing a normal autism-linked gene can cause cognitive problems, while under-producing it leads to arrested development. The findings suggest narrow windows of opportunity for effective gene therapies.
A new drug has been shown to prevent PTSD-like symptoms in mice by targeting the Oprl1 receptor, a gene variant linked to increased risk of developing PTSD in humans. The results suggest that the drug could have a similar preventive effect on PTSD in humans.
Researchers at Duke University have developed a novel genetic editing technique that repairs faulty genes responsible for Duchenne muscular dystrophy. The approach, which uses artificial enzymes to modify gene sequences, has shown promise in treating the disease, with over 60% of patients potentially benefiting from this new method.
Researchers at Johns Hopkins Medicine found that individually harmless genetic variations affecting related biochemical processes may team up to increase the risk of schizophrenia. The study suggests a buildup of mutations in a pathway related to the disease can be the culprit for the mental disorder.
A large scientific study has discovered two new genes associated with severe seizure disorders in infants and children. The finding will lead to new tests to diagnose these conditions and promises to improve outcomes for affected families.
The largest genetic sequencing study of human disease to date investigated six autoimmune diseases, including thyroid disease and type 1 diabetes. The study found that a complex combination of hundreds of weak-effect variants, each common in the population, contributes to the heritability of these conditions.
Researchers discover phosphatidylserine improves gene function in degenerative brain disorders, including Parkinson's disease and Familial Dysautonomia, slowing nerve cell death. The supplement is able to penetrate the blood-brain barrier, accumulating in sufficient amounts in the brain.
Researchers have identified a gene mutation that causes a spectrum of disorders affecting the bones and connective tissue, including SEMD-JL1 and Ehlers-Danlos syndrome. The study reveals that B3GALT6 is essential for the development and maintenance of these tissues.
A gene mutation associated with a rare sleep disorder has been found to contribute to debilitating migraines. The discovery could lead to the development of drugs specifically designed to treat chronic headaches.
A multicenter study reveals that mild traumatic brain injury after blast exposure produces inflammation and oxidative stress, similar to disorders of memory processing such as Alzheimer's disease. Gene activity patterns akin to neurodegenerative diseases were also observed in the brains of rats exposed to a shock tube.
Researchers used a method to test for evolutionary adaptation in genes regulated by FOXP2, a key factor in human development and language. The study found strong evidence for selection of FOXP2-regulated genes in European populations, highlighting their potential roles in neural cell development and immunity.
Researchers found that the APOE gene and ABCA7 gene were significant risk factors for late-onset Alzheimer's disease in African Americans. The study also suggests that these genes may be shared with Caucasians, but with different variants. Further studies are needed to understand the biologic implications of these findings.
Researchers found that children and adults with genetic liver disorders have good chances of survival five years after a liver transplant. High survival rates also imply that liver transplantation is the best available treatment for these patients.
A new study published in Reproductive Biomedicine Online reveals that blastocysts' fluid-filled cavities contain DNA from the embryo, allowing for diagnosis of genetic diseases without biopsy. Researchers extracted fluid from embryos at the 5-day-old stage and detected cell-free DNA using PCR and DNA microarray analysis.
The NIH has awarded a $1.67 million grant to UT Dallas researchers, led by Dr. Santosh D'Mello, to investigate the connection between histone deacetylase-3 (HDAC3) and Huntington's disease. The study seeks to understand why specific brain cells degenerate in this devastating disorder.
PhenoDB is a new online database that enables clinicians to document cases of unusual genetic diseases, which can then be analyzed by researchers. The database captures standardized information about a person's phenotype, including symptoms and family history, to help understand the genetic variations involved.
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.
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 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.
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.
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.
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.
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.