Articles tagged with Genetic Disorders
A novel disease gene SLC25A46 has been identified as a cause of neurodegenerative conditions, including optic atrophy and Charcot-Marie-Tooth Type 2. The study reveals that mutations in this gene disrupt mitochondrial dynamics, leading to improper localization and increased interconnectedness.
A new spectrum disorder called ALPIM syndrome has been identified by researchers, which links anxiety to physical disorders. The study found a high correlation between panic disorder and four domains of physical illness, including joint laxity, fibromyalgia, and immune disorders.
Kay E. Davies has made significant contributions to understanding Duchenne Muscular Dystrophy, a genetic disorder that causes rapid muscle weakness. Her research has led to the development of dystrophin minigenes and utrophin-based treatments, offering hope for all DMD patients.
Researchers have pinpointed the genetic cause of a rare form of blindness, which can present itself as a key-hole shaped defect in the eye. The miR-204 gene mutation has been linked to inherited retinal dystrophy associated with ocular coloboma.
Researchers at University of California, San Diego School of Medicine have identified a biological marker for mental illness in female patients. The study found that specific genes, including XIST, are over-produced in women with mental illnesses like bipolar disorder, major depression, and schizophrenia.
Researchers discovered that mutations in the AIRE gene can cause a milder form of Autoimmune polyendocrine syndrome type-1, affecting fewer organs and appearing later in life. This finding suggests that dominant AIRE-mutation autoimmune disease may be responsible for various autoimmune syndromes.
A Swedish study estimates the heritability of tic disorders at approximately 77%, suggesting a strong familial component. The study also reveals that risks are higher for full siblings, parents, and children of individuals with Tourette syndrome or chronic tic disorder.
Researchers found that mutations in one copy of the AIRE gene can cause symptoms of a rare autoimmune disorder, paving the way for specific diagnostic and treatment strategies. Dominant AIRE mutations are also more common than previously thought, occurring in at least 1 in 1,000 individuals.
A new study finds that genetic risk scores for schizophrenia and bipolar disorder are higher in creative individuals, suggesting a shared genetic root with creativity. This association could provide new clues about the underlying biological pathways of psychiatric disorders.
A new study led by Dr. Jinbo Bi at the University of Connecticut School of Engineering aims to find the genetic causes of specific symptoms of substance addiction. The study will use a database of over 11,000 subjects and develop new statistical tools to classify substance dependence more effectively.
Researchers discover that genetic mutations disrupt a delicate balance of excitatory and inhibitory signals in the brain, contributing to schizophrenia. The study finds strong evidence for the role of copy number variants in disrupting this balance, with potential implications for developing new treatments.
A study identified a previously unknown gene mutation underlying achromatopsia, an inherited eye disorder that causes severe color blindness and visual impairment. The ATF6 gene mutation damages proteins necessary for proper function of the cone photoreceptors, leading to significant vision loss.
A new study by GW researcher Valerie Hu found significant sex-dependent differences in brain RORA protein levels, with males having lower baseline levels and stronger correlations with genes regulated by RORA. The findings suggest that RORA deficiency may contribute to the known male bias in autism susceptibility.
Researchers used zebrafish to study the impact of dysregulation of SYNGAP1 and SHANK3 genes on brain development and behavior. The study found that disrupting these genes leads to hyper-excitable behaviors, delayed development, and changes in brain structure.
Genetic markers have been identified for large offspring syndrome (LOS) in cattle, a condition that can cause physical abnormalities and fatalities in newborn calves. This discovery may lead to safer assisted reproduction procedures by allowing breeders to avoid genetically predisposed embryos.
A study at Children's Mercy Hospital demonstrates the potential of rapid whole-genome sequencing in diagnosing genetic diseases in critically ill infants. The STAT-Seq test improved diagnosis rates to over half, leading to refined clinical care and improved treatment outcomes.
Researchers discovered a gene candidate that plays a key role in autoimmune diseases such as type 1 diabetes and rheumatoid arthritis. The study found a robust association between the CLEC16A gene region and common variable immunodeficiency disorder.
Recent breakthroughs in autism spectrum disorder (ASD) research focus on precision medicine approaches, leveraging genetic technologies to identify risk genes and develop personalized therapies. Neuroimaging studies are also helping understand brain structure and function across the lifespan.
Researchers analyzed genomic data from 16,000 individuals to understand the impact of mutations in two genes associated with a blood disorder. They found that about 1.3% carry a mutation in at least one gene, and algorithms predicted varying levels of harm from these mutations.
Researchers found that mice lacking the estrogen-related receptor alpha gene exhibit abnormal behaviors related to eating and social interactions. The study identifies ESRRA as a key gene contributing to the risk of anorexia nervosa, with implications for treating the disorder.
A University of Colorado Cancer Center study found a heritable genetic cause of acute lymphoblastic leukemia (ALL), similar to the BRCA mutation that affects breast and ovarian cancer risk. The ETV6 gene mutation is present at birth and increases the development of ALL, with the potential for future strategies to prevent the disease.
A study led by Drs. Kelleher and Shen discovered that presenilin-1 mutations decrease gamma-secretase activity, leading to age-dependent death of neurons and neurodegeneration. The findings may transform the way scientists design drugs for inherited Alzheimer's disease.
Researchers found that mutations in MECP2 lead to increased expression of long genes, which are often greater than 100,000 nucleotides in length. This overexpression may be a distinctive signature of Rett Syndrome and related disorders.
A UK twin study found that genetics account for up to 95% of the risk of developing autism spectrum disorder, with moderate environmental influences also playing a role. The study's results provide new insights into the complex causes of autism and may help inform future treatments.
Breeding dogs solely based on DNA tests can increase inbreeding and reduce genetic diversity, experts warn. A combined approach of DNA analysis, health screening, and pedigree information is necessary to minimize inherited diseases and improve the health of pedigree lines.
Biomedical ethicists review current arguments on disclosing genetic information of the deceased and offer suggestions for developing policies. They propose passive postmortem disclosure policies, where access to genetic info is provided at family members' request under certain circumstances.
A gene linked to primordial dwarfism has been identified, revealing errors in the XRCC4 gene cause profound growth defects before birth. The discovery helps provide better diagnoses for families affected and advises children with mutations to minimize X-ray exposure and regular immunological checks.
A growth hormone called IGF-1 has been shown to improve social impairment and restrictive behaviors in children with Phelan-McDermid syndrome, a disorder associated with autism. The treatment showed significant improvement in social withdrawal and repetitive behaviors compared to placebo.
Researchers have discovered seven new genes associated with X-linked intellectual disability, a condition that affects mostly men. The study used genetic analysis to identify mutations on the X chromosome as the cause of the disorder, which has highly variable clinical manifestations.
Researchers at the University of Kent have identified karyomapping as a viable and cost-effective method for detecting genetic diseases in IVF embryos. This technique simultaneously detects chromosomal disorders with monogenic disorders, potentially reducing the need for individualized tests.
Researchers at Johns Hopkins Medicine have successfully used CRISPR to precisely and efficiently alter human stem cells, showcasing its potential for treatment and disease research. The findings suggest that CRISPR may be a useful tool for editing genes in human-induced pluripotent stem cells with minimal risk of off-target effects.
A nationwide project has revealed 12 new genetic causes of developmental disorders, including intellectual disabilities and congenital heart defects. The Deciphering Developmental Disorders (DDD) project sequenced DNA from over 1,000 children to identify the genes responsible for their conditions.
A new study from The Scripps Research Institute suggests a drug compound can benefit not only parents but also their children by changing genetic expression, leading to improved memory and motor skills in offspring with Huntington's disease. This breakthrough discovery offers promising potential for treating the inherited disorder.
Researchers at NYU Langone Medical Center discovered that the gene AUTS2, linked to autism spectrum disorders, stimulates other genes in early brain development. The study suggests that AUTS2 may play a key role in controlling a transcriptional program during early brain development.
A nationwide project is diagnosing rare diseases in children, finding a cause for nearly a third of first 1,000 families. Genome-wide sequencing and database comparison help identify genetic keys to disorders.
Researchers found 26% of sporadic ALS patients carry potential mutations in known ALS genes, suggesting genetic errors contribute to significantly more cases. Mutations in multiple genes can accelerate disease onset.
A new study published in Science Translational Medicine confirms the benefits of genomic medicine in diagnosing children with neurologic disorders. Genomic testing has ended diagnostic odysseys for families, leading to changes in clinical impressions and management, while also reducing wait times by over six years.
A genetic mutation has been identified as the cause of congenital sucrose-isomaltase deficiency (CSID), a disorder that prevents the absorption of sucrose in Inuit people. The study found that CSID is more common in Inuit individuals living in northern Canada and Greenland.
Research identifies ASIC1a gene variants associated with panic disorder and respiratory symptoms such as shortness of breath and feelings of suffocation. The study found that the genes are also linked to amygdala structure and function, raising hopes for new treatments.
The CRISPR-Cas9 system has revolutionized genome engineering by providing a precise and efficient method for making site-specific changes to the genome. Its applications extend from developing new therapies for genetic disorders to changing the pace of agricultural research.
Researchers at the University of Leeds have identified a missing gene mutation linked to autistic traits in mice. The study found behavioural features similar to autism symptoms, including sociability issues and impaired neurotransmitter release.
Sickle cell disease carriers in sub-Saharan Africa require aggressive public health education to raise awareness of the risks of having children with the disease. The disorder causes significant physical and emotional challenges, as well as potential life-threatening complications.
Two major genetic studies have implicated dozens of genes in autism, affecting communication networks and fundamental biological mechanisms. The research provides a clear path forward for understanding the biology of autism and finding new treatments.
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.