Articles tagged with Genetic Disorders
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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.
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.
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 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.
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.
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.
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.
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.