Research on inherited diseases and their causes. Covers RNA therapies, hidden diabetes subtypes, pulmonary disease, and prenatal genetic testing.
Two GWAS studies have identified possible associations with genes related to obsessive-compulsive disorder (OCD) and Tourette syndrome. The studies found potential links to BTBD3, DLGAP1, COL27A1, and other SNPs, but further research is needed to confirm these findings.
Researchers identified a key gene mutation causing Cornelia deLange syndrome, a childhood genetic disease. Mutations in the HDAC8 gene disrupt cellular recycling of cohesin, leading to impaired gene transcription and embryonic development.
Researchers at St. Jude Children's Research Hospital have discovered a new mechanism for eliminating unneeded proteins in cells, which could lead to new treatments for rare blood vessel disorders. The study reveals how a protein called Glomulin disrupts the ubiquitin system, marking potentially thousands of proteins for destruction.
The Johns Hopkins Center for Inherited Disease Research has received $101 million in research funding from the National Institutes of Health. The center, part of the McKusick-Nathans Institute of Genetic Medicine, will support the genetics community in finding genes that contribute to disease through DNA genotyping and sequencing.
Scientists have identified a new gene, RORA, linked to post-traumatic stress disorder (PTSD), suggesting that it may play a role in the development of the condition. The study found a significant association between variations in the RORA gene and PTSD, highlighting a potential new avenue for research on how the brain responds to trauma.
Researchers have identified the ATP1A3 gene as the primary cause of Alternating Hemplegia of Childhood in the majority of patients. This discovery was made possible by next-generation sequencing and an international database of affected individuals, providing a new tool for diagnosis and potentially effective therapies.
A novel gene therapy approach has been developed to increase frataxin protein levels in Friedreich's ataxia patients. The method, using TALE proteins, successfully boosted frataxin production by 2-3 fold, offering a potential solution for treating the genetic disorder.
A study published in PLoS One found that individuals with Williams syndrome exhibit abnormal hormonal responses to emotional triggers, particularly increased levels of oxytocin and arginine vasopressin. This may help understand human social behavior and inform treatment for related disorders.
Researchers at UCLA have combined gene expression and peripheral blood analysis to identify potential precursors of autism. The study found strong links between genetic variations in specific regions of the genome and altered expression patterns in genes related to nervous-system function.
A pioneering study finds genetic changes that explain why one person has an autism spectrum disorder (ASD) and another does not. The research identifies potential new regions where copy-number variants are associated with ASDs and shows a significant impact of these variants on gene expression.
Researchers at MIT used zebrafish to study genes associated with autism, finding that nearly all produced brain abnormalities when deleted. The study identified two key genes, kif22 and aldolase a, which may contribute to the development of neurological disorders.
Researchers studied people with and without Williams syndrome to gauge emotional response through hormone release. The study found that oxytocin levels increased in response to music, particularly Elvis songs, suggesting a link between the hormone and emotional experience.
Researchers use green fluorescent protein to detect defective genes in children with glycosylation disorders, enabling the development of targeted therapies. The tool helps identify genes causing intellectual disability, digestive problems, seizures, and low blood sugar in children.
Researchers at Mayo Clinic identified altered gene expression levels in over 2,000 genes associated with neurodegenerative diseases. These genetic variants contribute to disease development and progression, providing potential targets for new therapies.
A study published in PLOS ONE reveals that exposure to psychoactive pharmaceuticals in water can induce autism-like gene expression in fathead minnows, specifically in those with genetic predisposition. The findings suggest a potential environmental trigger for autism spectrum disorder in vulnerable individuals.
Researchers discovered mutations in the RAD21 gene that cause mild cognitive and physical impairments, similar to cohesin disorders. The study suggests children with mild symptoms may go undiagnosed.
Researchers identified 20 distinct mutations in a specific gene causing Familial Glucocorticoid Deficiency (FGD), leading to cortisol production issues. The antioxidant gene NNT provides a new mechanism for this adrenal disease, potentially opening doors to treating other diseases.
Research identifies CDKN1C gene mutation as cause of IMAGe syndrome, a rare developmental disorder affecting fetal growth and organ size. The study also reveals the gene's role in regulating cell growth and division, with implications for understanding tumour development.
A team of scientists has identified the genetic cause of Hamamy syndrome, a rare birth defect marked by abnormal facial features and heart defects. The discovery links the disease to a mutation in the IRX5 gene, which is highly conserved across animals.
Researchers identified C5ORF42 as the gene causing Joubert Syndrome in French Canadian families in the Lower St. Lawrence region of Quebec. The study, published in The American Journal of Human Genetics, provides a genetic basis for the syndrome and allows family members to assess their children's genetic risks with a simple DNA test.
Researchers at UF will study glycogen storage disease type III and its potential link to high blood pressure and other common conditions on the Faroe Islands. The center aims to provide insights into a rare genetic disorder and potentially change treatment approaches.
Positive results from animal models and initial clinical trial results show promise for retinal gene therapy to treat inherited diseases. Researchers have developed efficient and safe viral delivery systems to introduce therapeutic genes into photoreceptor cells.
Researchers found a deletion in the TMLHE gene that may contribute to milder forms of autism, affecting about one-half of one percent of autism cases. The study suggests that dietary carnitine levels from birth to age three may modify the risk of autism.
Researchers at Columbia University Medical Center presented studies on the impact of large-vessel acute ischemic stroke on cerebral blood vessels and found that dynamic cerebral autoregulation is impaired after the event, but normalizes by week two. Additionally, they discovered increased regional expression of Lingo-1 in the essential...
Researchers identified 22 new genes linked to autism and neurodevelopmental disorders, revealing the genetic code can be disrupted at distinct sites without causing significant loss of genetic material.
A study has discovered 33 genes contributing to autism and related disorders, including schizophrenia. Chromosomal breakpoints and rearrangements in non-protein-coding regions disrupted these genes, highlighting their individual impact on neurodevelopmental abnormalities.
Despite advances in scientific understanding and medical treatments, much work remains to be done to fully understand the causes of dyslexia. Early identification and treatment can significantly improve outcomes for children with dyslexia, according to experts.
Biologists at the University of Toronto found that individuals with low-quality genes can produce offspring with even more inferior chromosomes, possibly leading to extinction. The study suggests that this could result in a 'mutational meltdown' that devastates endangered populations and increases health problems.
Scientists at the University of Florida's Center for NeuroGenetics are studying a new idea that challenges traditional views on how proteins are made in cells and their impact on genetic diseases. The team aims to understand how repetitive DNA sequences can lead to disease-causing mutations without the usual protein expression signals.
Scientists have developed a new technique to determine which patients with homocystinuria are most likely to respond to vitamin B6 treatment based on their genotypes. The study correlates specific gene mutations with disease severity and may help physicians prescribe treatment based on genotype.
Fathers are four times more likely than mothers to transmit spontaneous mutations to their children with autism, increasing the child's risk five to 20 fold. Researchers found that these tiny genetic glitches play a significant role in ASDs and may provide clues to new treatments.
Researchers found a common network of interactions among genes mutated in children with autism, affecting brain cell formation and signaling. The study also discovered that most new mutations were paternal in origin, correlating with the age of the father.
Research suggests that smoking can increase the impact of genes like TCF4 on acoustic stimulus filtering, potentially leading to schizophrenia. Healthy carriers of the TCF4 gene also exhibit reduced stimulus filtering abilities.
A study led by Eric Courchesne identified genetic mechanisms involved in abnormal early brain development and overgrowth in young autism patients. The findings suggest novel genetic and molecular targets for prevention and treatment strategies.
A study discovered mutations in the mitochondrial methionyl-tRNA synthetase gene that cause neurodegenerative disorders in both fruit flies and humans. The findings suggest that antioxidants may counteract the negative consequences of these mutations in flies, raising hope for potential therapeutic approaches in human patients.
Aarhus University researchers will study five specific mental disorders: schizophrenia, manic depression, depression, autism, and ADHD. They aim to identify biological disease mechanisms and provide the basis for better treatment and prevention.
A small study of 25 patients with hereditary hemorrhagic telangiectasia found improved cardiac output and reduced duration and number of episodes of nose bleeds after receiving bevacizumab. The treatment also significantly improved quality of life, with moderate toxicity observed.
A team of researchers from Mayo Clinic and the University of Tennessee Health Sciences Center identified the CIZ1 gene as the cause of adult-onset primary cervical dystonia. The discovery sheds light on a movement disorder that has long been difficult to explain, with symptoms including involuntary neck twisting and muscle pain.
Researchers identified a previously unknown mutation in a sodium channel protein as the likely cause of a rare and severe form of epilepsy. The discovery provides emotional relief to the patient's family, who had been searching for answers.
Researchers discovered a gene responsible for congenital mirror movements disease, which affects motor skills and hand movement coordination. The RAD51 gene is involved in the transmission of brain signals between the left and right sides of the body.
A study published in Autism found that 83% of children with autism spectrum disorder were below average in motor skills, while their siblings scored in the normal range. The researchers suggest that genes play a role in these impairments, potentially explaining the association between motor coordination and social responsiveness.
Researchers at USC have discovered an abnormal amount of Transforming Growth Factor Beta (TGF-β) outside cells, which may indicate Loeys-Dietz syndrome. This finding could enable rapid diagnosis and treatment of the life-threatening birth defect.
Researchers used whole-exome sequencing to diagnose a type of severe metabolic disease, identifying the genetic mutation responsible. The study showcases the potential for this technique to aid in diagnosing congenital disorders of glycosylation, offering new hope for families affected by these conditions.
A rare kidney disease study reveals how sodium and potassium levels are moderated in the body, shedding light on hypertension and familial high blood pressure disease. Researchers identified novel mutations linked to increased sodium activity and decreased potassium activity, providing a better understanding of this inherited condition.
A genetic mutation in the PLCG2 gene causes a rare immune disorder characterized by excessive and impaired immune function, leading to symptoms such as cold-induced hives, immune deficiency, and autoimmunity. The study identifies a unique genetic mechanism at the crux of allergy, immune defense, and self-tolerance.
A team of researchers has associated mutations in the reticulon 2 gene with hereditary spastic paraplegia type 12. They discovered that these mutations likely cause neurodegeneration by disrupting ER-shaping proteins, providing new insights into this complex disorder.
A team of researchers identified genetic mutations in OATP1B1 and OATP1B3 as the cause of Rotor syndrome, a rare genetic disorder characterized by jaundice. Complete deficiency of these proteins causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver.
Researchers identified genetic mutations in OATP1B1 and OATP1B3 proteins as the underlying cause of Rotor syndrome, a condition characterized by conjugated bilirubin buildup. Complete deficiency of these proteins can cause hypersensitivity to certain drugs and interrupt conjugated bilirubin reuptake into the liver.
Mayo Clinic researchers identified a gene responsible for hereditary diffuse leukoencephalopathy with spheroids (HDLS), a devastating brain disorder that leads to death between ages 40 and 60. The finding suggests HDLS may be more common than previously thought, allowing for genetic diagnosis without brain biopsy or autopsy.
Researchers may have unraveled the mystery of Elizabeth Barrett Browning's lifelong chronic illness, which shares symptoms with hypokalemic periodic paralysis. Her daughter's experience with the muscle disorder has provided a unique lens to view her letters and diary entries.
Treatment with Sirt1 overexpression may slow brain cell loss in Huntington's disease, a neurodegenerative disorder. Increased Sirt1 expression protected against neurodegeneration and huntingtin aggregation in mouse models.
A new study finds that nearly all individuals with paroxysmal kinesigenic dyskinesia (PKD) carry mutations in the PRRT2 gene, leading to abnormal neural communication and hyperexcitability. The condition can be well-controlled with existing drugs and often resolves with age.
Researchers have identified a critical genetic mutation in patients with myelodysplastic syndromes, which can progress to leukemia. The mutation is found in nearly 9% of patients, increasing the risk of developing acute leukemia by almost three times. The study raises hopes for improved diagnosis and treatment of this blood cancer.
Researchers at the Salk Institute have developed a new gene editing technique that uses patients' own cells to correct genetic mutations in the HBB gene, which causes sickle cell disease. The method repairs the beta-globin gene without introducing harmful genes into cells and appears to be more efficient than traditional techniques.
Scripps Research scientists have identified a key gene that plays a crucial role in maintaining metabolic balance. The study found that the melanocortin-3 receptor (MC3R) expressed outside the brain is equally important as its central nervous system counterpart.
Researchers found a link between genetic variants in cannabinoid receptor 1 (CNR1) and increased susceptibility to alcohol dependence. Specific CNR1 polymorphisms were more frequent in patients with alcohol dependence than those who abused alcohol.
A large-scale clinical study has provided insights into the causes of temporomandibular joint disorders, known as TMD, and identified demographic, biological, psychological, and genetic factors associated with chronic cases. The study's findings may lead to new methods of diagnosing facial pain conditions and predicting susceptibility.
Researchers at Penn's Perelman School of Medicine have made a breakthrough in treating the rare genetic disorder FOP, also known as fibrodysplasia ossificans progressiva. By using RNA interference to silence the damaged gene copy and leave the normal copy untouched, they restored cellular function caused by the FOP mutation.
Researchers discovered that brief periods of exercise in early life increased survival rates in mice with spinocerebellar ataxia 1 (SCA1), a devastating inherited disorder. Exercise reduced levels of capicua, a protein partner of ataxin1, which improved symptoms and extended lifespan.
A genome-wide association study has identified the TBL1X gene as a novel candidate gene for autism spectrum disorder (ASD) in males. The study found an association between variations in the TBL1X gene and an increased risk of ASD, with an estimated 15% increase in risk.