Articles tagged with Genetic Disorders
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A recent study published in Human Gene Therapy evaluated the immune response to viral vector delivery systems and their impact on gene therapy's safety and efficacy. The researchers found that the systemic and local immune reactions induced by AAV-based gene therapy did not affect the safety of gene therapy or expression of the replace...
Research suggests that epigenetic changes, unrelated to genetic mutations, may contribute to the development of psychiatric disorders. Older fathers' sperm show a decrease in DNA methylation, which affects gene expression in offspring.
A study by USC scientists found that air pollution exposure amplifies the risk of developing autism spectrum disorder in children who carry a genetic variant associated with the disorder. The research, published in Epidemiology, suggests that gene-environment interactions play a significant role in autism risk.
Researchers used RNA interference to identify dozens of genes that may regulate mitochondrial disposal, opening new drug targets for Parkinson's and related disorders. Four helper genes were found to enhance or inhibit tagging of damaged mitochondria.
A study by University of Montreal researchers found that asparagine, an amino acid in food, is crucial for normal brain development. The lack of this nutrient affects the proliferation and survival of cells during brain development.
A new sequencing method identified a set of genes used by microglia to sense their environment, called the 'sensome'. As aging increases, microglia's expression of neuroprotective genes becomes more active while toxic actions are downregulated. This discovery may lead to better understanding and treatments for neurodegenerative disorders.
Researchers found that a specific molecular process controls B cell activation and differentiation, leading to impaired antibody production. The study highlights the importance of genes like IL-21 receptor, STAT3, and CD25 in B cell function, with mutations causing debilitating effects in patients.
Whitehead Institute scientists report that the FLCN protein acts as a trigger to activate the mTORC1 pathway, which regulates cell growth in response to nutrient levels. This unexpected finding may provide insight into how cancer cells distort normal cellular functions to maintain their own harmful ways.
Researchers at KU Leuven developed eXtasy software that uses advanced AI to analyze genetic data and identify disease-causing mutations. The breakthrough promises faster and more accurate diagnoses for millions of people with hereditary diseases.
Researchers identify novel gene mutation in NFKB2 that impairs antibody production and fight infection, leading to common variable immunodeficiency (CVID). The discovery provides a new mechanism for immune deficiency and enables early diagnosis and treatment.
Researchers at Aarhus University are using pigs, zebrafish and jellyfish to investigate hereditary forms of nervous disorders. They have successfully transferred the SYN1 gene from humans to pigs, which is involved in communication between nerve cells, to create a model for neurodegenerative diseases like Parkinson's disease.
A rare inherited disorder has been linked to a recessive gene mutation that affects the synthesis of asparagine, a nutrient crucial for normal brain development. The mutation causes a defect in the body's production of asparagine, leading to abnormal brain growth and developmental delays.
A single gene mutation in the HPRT1 gene is linked to Lesch-Nyhan syndrome and other neurological disorders such as Alzheimer
Researchers identify genetic mutations in two families with eating disorders, correlated with reduced estrogen-related receptor alpha activity. Mutations also reduce expression of known ERRSA-dependent genes, increasing risk of developing eating disorders.
A study led by researchers at Mount Sinai found that individuals with autism were more likely to have gene deletions than those without the disorder, which may contribute to miswiring of brain neurons. The study suggests that these deletions could impact genetic testing and have clinical significance.
A team of scientists has developed a process to connect an autism-linked gene to its function. They found that mutations in the NHE9 gene cause communication problems among brain cells, contributing to autism. The study used a step-wise strategy to screen variants and identified changes that affect endosomal pH, altering cell traffic.
A study by the University of Cambridge reveals that folic acid deficiency not only affects immediate offspring but also has detrimental health effects on subsequent generations. Researchers found that epigenetic changes caused by a specific gene mutation led to developmental abnormalities in great, great grandchildren.
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.