Articles tagged with Genetic Disorders
A new test called trio-CES, which sequences the whole exome of the affected individual and both parents simultaneously, was associated with a significantly higher molecular diagnostic yield (31%) compared to proband-CES (22%). In cases of developmental delay in children, trio-CES had a diagnosis rate of 41% compared to 9% for proband-CES.
A study found that aging and depression are associated with increased expression of the FKBP5 gene, linked to inflammation and cardiovascular risk. This epigenetic change may contribute to the development of age-related diseases.
Researchers found a small but significant effect of gene conversion bias on the persistence of heritable diseases in populations. The study suggests that this bias may contribute to the retention of disease-associated alleles, increasing the risk of recessive diseases across populations.
Researchers have successfully treated a genetic form of intellectual disability in mice using an anticancer drug, suggesting a potential new approach for the human condition. The study's findings indicate that altering the balance between chromatin's open and closed states could be key to treating Mendelian disorders of the epigenetic ...
Dr. Patrick F. Sullivan, a psychiatric geneticist, received the 2014 Lieber Prize for his distinguished work on schizophrenia. He heads large international projects and directs mega-analyses involving 90,000 participants.
A gene mutation in ACD has been linked to aplastic anemia by disrupting telomere function and protecting cells from DNA damage. Researchers hope this discovery will lead to new treatments for the disease.
A recent study found that sickle cell patients who experience discrimination are 53% more likely to not adhere to their doctors' orders. The researchers analyzed the experiences of 291 patients with sickle cell disease and found a significant association between perceived discrimination and non-adherence.
The Jeffrey Modell Foundation has awarded a research grant to a Belgian laboratory led by Adrian Liston to develop a gene therapy for children suffering from IPEX syndrome. The gene therapy aims to correct the mutation responsible for the disease, offering a potential cure for this rare and fatal autoimmune disorder.
Scientists at Washington State University have discovered a critical step in the DNA repair process that could lead to new therapies for hereditary diseases. They found that a specific protein must be 'unbuckled' to allow easy access for the DNA repair crew, and this discovery may lead to targeted gene therapy.
Researchers have identified the mechanism by which Kennedy's disease causes muscle weakness and reduced fertility, impairing autophagy pathway function. The study suggests that targeting the bad androgen receptor protein could prevent the disease and other neurological disorders from progressing.
Researchers found that early enzyme replacement treatment was most effective in mice with very early-stage disease, while late-stage disease proved ineffective. Continued research is crucial to understand the reversibility of disease-based degenerative changes.
Researchers have identified two mutations in the CC2D1A gene that prevent its expression, leading to intellectual disability, autism, and seizures. The gene regulates a critical signaling pathway controlling neuronal balance.
A recent study led by researchers at the Icahn School of Medicine at Mount Sinai found that nearly 60% of autism risk is caused by inherited variant genes common in the population. Rare genetic factors, such as de novo mutations, also contribute to the disorder, but only account for a small fraction of total risk.
UCLA's David Geffen School of Medicine has received a $7.2 million NIH grant to tackle rare genetic disorders through comprehensive bedside-to-bench clinical research. The program aims to provide answers to patients living with undiagnosed diseases by analyzing patients' genomes and identifying environmental factors that lead to disease.
Scientists have discovered that a defect in the huntingtin gene impairs mitochondria, leading to brain cell death in Huntington's disease. The study found that brain cells rely heavily on their mitochondria, making them vulnerable to disruption.
A new report provides a primer for doctors to effectively use clinical genome and exome sequencing in diagnosing rare childhood diseases. The technology has already identified the genetic cause of disease in about 25% of patients, including Charcot-Marie-Tooth disease and mental retardation.
Clinical genome and exome sequencing is increasingly used to diagnose rare genetic disorders, but its limitations must be understood. Physicians should explore family history, conduct literature searches, and consider informed consent before ordering the test.
A study published in PLOS Computational Biology reveals that hereditary disease genes are found throughout the human body. This discovery highlights tissue-specific protein interactions and provides a powerful tool for identifying new therapeutic targets.
A nationwide study, led by the Children's Hospital of Eastern Ontario Research Institute, has solved 146 rare disorders and identified 67 novel genes associated with rare diseases. The research team used exome sequencing to identify common biological pathways across multiple rare disorders.
Scientists have observed the process by which CRISPR enzymes bind and alter DNA structure, paving the way for correcting genetic diseases in humans. The study provides a vital piece of the puzzle for genome editing tools to be used in humans.
Researchers found that duplication of the OTX2 gene is associated with hemifacial microsomia, a common facial disorder. The study used genomic analysis to identify the genetic cause of the condition in a large family affected by HFM.
A DNA repair gene may hold the key to treating a genetic disorder, according to Caltech researchers. The study found that manipulating another gene, DNA2, could improve the survival of cells lacking FANCD2 and potentially lead to new treatments for Fanconi anemia.
Researchers identified a genetic disorder, DADA2, caused by inherited mutations in the ADA2 blood enzyme, leading to sporadic fevers, skin rashes, and recurring strokes. The discovery may lead to novel diagnostics and potential treatments using artificial forms of the protein.
Researchers identified a previously unknown neurodegenerative disorder caused by a single mutation in the CLP1 gene, found in individuals born during the Ottoman Empire. The study suggests that consanguineous marriages in Turkey contribute to the high prevalence of rare genetic disorders.
Researchers have identified a new genetic brain disorder associated with degeneration of the central and peripheral nervous systems, caused by a mutation in the CLP1 gene. The condition is characterized by reduced brain size, sensory and motor defects, seizures, brain atrophy, and neuronal death.
A new genetic brain disorder has been discovered in humans, caused by a mutation in the CLP1 gene. The disorder affects the human nervous system and is characterized by reduced brain size, sensory and motor defects, and neuronal death.
A study of almost 2,500 families found that genetic alterations in shared biological pathways are a significant risk factor for autism spectrum disorders (ASD). Individuals with ASD had more CNVs affecting genes involved in brain development and synapse function.
Researchers at Duke University Medical Center have identified a potential treatment approach for ciliopathies, a group of rare genetic disorders. The study found that bolstering the function of the proteasome system can correct physical damage caused by defective cilia, offering new hope for therapies.
Marina Cavazzana and Adrian Thrasher have been honored with the Pioneer Award for basic and clinical gene therapy for immunodeficiency disorders. They are pioneers in treating life-threatening inherited diseases of the immune system with gene therapy, using a patient's own modified stem cells.
The Proband app allows healthcare providers to create digital genetic pedigrees on iPads, streamlining family history data collection and integration. The app's gesture-based interface and auto-alignment feature make it easy for clinicians to draw complex family diagrams, reducing errors and improving patient care.
Scientists have identified a previously unrecognized gene variation associated with healthier blood lipid levels and reduced risk of heart attacks. The discovery uses a new approach to scan the genome for variations in genes that change protein function.
A new gene therapy approach has been shown to be safe and well-tolerated in a clinical trial of four children with mucopolysaccharidosis type IIIA, an inherited lysosomal storage disease. The treatment involved delivering therapeutic genes via an adeno-associated viral vector, resulting in improved brain shrinkage and behavioral changes.
A recent study published in Nature Communications has identified two new gene regions linked to bipolar disorder, bringing hope for new treatments. The research, involving over 24,000 patients and healthy individuals, sheds light on the genetic factors contributing to the complex condition.
Researchers identified two new gene regions associated with bipolar disorder and confirmed three existing ones through a massive international collaboration. The study analyzed genetic data from over 9,400 patients and found that these genes work together with environmental factors to contribute to the disease.
Recent years have seen progress in ASD research, with updates on genetic causes, effective treatments, and promoting success for young people with ASD entering college. The special issue of Harvard Review of Psychiatry highlights six key areas of research.
Researchers have identified a genetic cause for premature ovarian failure, finding that mutations in the STAG3 gene lead to infertility. The study analyzed samples from a consanguineous family and confirmed that the mutation affects both males and females, making it a strong candidate for male infertility as well.
A large cohort study found that females diagnosed with autism spectrum disorder (ASD) and other neurodevelopmental disorders have a greater number of harmful genetic mutations than males. This suggests that the female brain requires more extreme genetic alterations to produce symptoms of ASD or neurodevelopmental disorders.
Researchers have found rare gene variants on chromosome 7 that substantially increase schizophrenia risk, up to 100 out of a 1000 chance. The study also reveals a link between these genes and other disorders such as autism and intellectual development.
A new study in PLOS Genetics finds common genetic variants may indicate the presence of influential rare mutations that have yet to be discovered. This 'synthetic association' sheds light on the genetic make-up's large influence on cancer risk, highlighting the importance of identifying causal genetic changes.
LA BioMed researchers have reported a promising new therapy for Sanfilippo B syndrome, reducing brain damage and reversing heparan sulfate storage. The experimental treatment, NAGLU-IGF2, is taken up by neurons in the disease model, providing hope for patients with no available therapies.
Researchers have identified specific proteins disrupted by genetic mutations in people with schizophrenia, offering a new understanding of the disorder. The study also found an overlap between schizophrenia and other neurodevelopmental disorders like autism and intellectual disability.
A new gene, CHD2, has been found to be responsible for a subset of epilepsy patients with symptoms similar to Dravet syndrome. This discovery offers new diagnostic tools and potential treatments for families affected by the condition.
A recent study has made significant progress in understanding the role of DNA in predisposing individuals to diseases such as type 2 diabetes. The research integrated computational methodology with experimentation to identify genetic variants that promote disease by interfering with gene regulation and altering fat cell function.
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 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.