A new gene, kalirin, has been discovered that may contribute to the development of cardiovascular disease. The research suggests a biological mechanism never before linked to the disease and could lead to novel ways to treat or prevent it.
Dr. Kenneth Lyons Jones, a pioneering researcher, has received the 2007 March of Dimes/Colonel Harland Sanders Award for his groundbreaking work on dysmorphology and fetal alcohol syndrome. His research has focused on identifying mechanisms of normal and abnormal fetal development.
Researchers from the Autism Genome Project have made significant discoveries about the genetic basis of autism, implicating previously unidentified regions and genes in chromosome 11 and neurexin 1. The study's findings hold promise for diagnosis and treatment breakthroughs.
A massive international study identifies potential genetic links for autism, shedding light on the disorder's neurological basis. The research, involving over 1,400 families, suggests that certain genes increase the risk of developing autism, while environmental factors also play a role.
Research on ophthalmic genetics has identified genes associated with retinitis pigmentosa, corneal dystrophies, and other eye diseases, offering insights into heredity and molecular genetics. Collaboration between scientists is expected to answer questions about gene functions and benefit patients
Researchers have identified a novel biological pathway that may contribute to cases of mental retardation and autism, with mutations in two genes causing brain abnormalities and milder symptoms than classical forms of Cornelia deLange syndrome.
A USC study in Nature Genetics finds genes silenced by Polycomb proteins are more likely to be methylated in cancers, supporting a stem cell origin of cancer. The research also shows that epigenetic alterations precede genetic events in cancer development.
A massive effort to sequence and compare complete or partial genomes of Plasmodium falciparum has revealed nearly 47,000 genetic variations. This data will help researchers understand the parasite's evolution and study malarial drug resistance. New antigens identified may be potential targets for new therapeutics or vaccines.
Researchers at Cornell University discovered a mutant mouse with increased genomic instability, leading to mammary tumors. The study suggests that impaired DNA replication genes may contribute to breast cancer.
Noonan syndrome is a common childhood genetic disorder caused by mutations in the SOS1 gene. Researchers identified this mutation in approximately 20% of cases, promoting excessive activation of RAS and its downstream target, MAP kinase.
Researchers at Yale School of Medicine found that genetic factors contribute significantly to the development of retinopathy of prematurity (ROP), with 70% of the contribution attributed to genetics. The study identified gestational age and supplemental oxygen as significant independent contributing factors for ROP.
Researchers have identified TRP channel genes as crucial in nicotine dependence, which could lead to new treatments for tobacco addiction. The study uses C. elegans worms as a model to understand the genetics of nicotine dependence.
Researchers at Max Planck Institute for Molecular Genetics in Berlin have explained the molecular principles of cell division control mechanisms. The study found that checkpoint kinases interact with a different category of proteins involved in developing the cell division spindle.
The study identified two genes linked to Crohn's disease: Nod2 and IL-23R. This discovery may lead to improved diagnosis and targeted drug therapies for patients with Crohn's disease.
A new genetic link has been found for Crohn's disease, revealing a crucial target for drugs that might better manage the condition. The discovery of a specific gene variant confers significant protection against IBD, suggesting therapies targeting the IL-23 pathway may lead to more individualized treatments.
A recent study has identified a new genetic link to Crohn's disease, revealing that mutations in the IL-23 receptor gene are strongly associated with the condition. The researchers found that one type of mutation provides significant protection, paving the way for more individualized and effective treatments.
Researchers have discovered a genetic risk factor for inflammatory bowel disease (IBD) that may confer protection against Crohn's disease and ulcerative colitis. The study highlights a major inflammatory pathway and identifies potential targets for therapies, including the manipulation of IL-23 pathway.
A study by Yale researchers has identified a gene variant associated with Crohn's disease, which may offer new therapeutic targets for the condition. The discovery was made in collaboration with international researchers who scanned the genome of over 300,000 individuals to identify genetic components of inflammatory bowel disease.
A new study published in PLoS Genetics has identified specific DNA regions that have accelerated their evolution in humans compared to chimpanzees. These 'Human Accelerated Regions' (HARs) are located near genes involved in growth and development, suggesting they may play important roles in human evolution.
A recent study by Dr. Robert Koenekoop and colleagues has identified the CEP290 gene as the most common cause of Leber Congenital Amaurosis (LCA), a form of congenital blindness. The discovery could lead to improved screening and treatment options for affected children.
A large collaborative effort has made publicly available genetic data for Parkinson's research, providing new opportunities for future studies. The data includes genotypes from hundred of patients and healthy controls, which may help identify common genetic variability that results in minor and moderate risk for disease.
The Genetics and Public Policy Center will conduct a public discussion about future potential large U.S. population-based studies examining the roles of genes and environment in human health. The study aims to unravel complex genetic and environmental factors contributing to common diseases such as cancer and heart disease.
An international team, led by UCLA's Roel Ophoff, is conducting a four-year study on schizophrenia that will analyze the human genome of approximately 850 Dutch patients and 750 control subjects to pinpoint related genes. This approach aims to separate false clues from true genetic variants associated with the disorder.
The study provides valuable insights into the genetic causes of Parkinson's disease and offers a starting point for further research. Researchers have made the data publicly available, creating a resource that can be used by other scientists to accelerate progress in the field.
An international team analyzed human genetic variation within the major histocompatibility complex (MHC), a critical immune region. The study provides a detailed map of MHC genetic variability, laying the foundation for future research into the genetic roots of immune-related diseases.
Researchers identified genes affecting fruit fly aggression, finding a 10% genetic contribution to behavior. The study's findings have implications for understanding abnormal aggression in humans and developing pharmaceutical interventions.
The University of Rochester Medical Center is establishing a leading program in Cancer Stem Cell Research to discover cures for cancer. By studying the 'master cells' of this deadly disease, scientists aim to find underlying causes and develop therapies to target cancer stem cells.
A recent study published in PLOS Genetics has identified two distinct genetic profiles among modern Europeans, which can be used to control for ancestry in genetic studies. The findings have significant implications for understanding the distribution of genetic variation in European populations and their impact on disease research.
A study by Purdue University researchers has identified unusual genetic traits in voles that challenge current scientific understanding. The vole's unique genetic makeup, including its ability to insert DNA into the nucleus, could have important implications for human genetics and gene therapy.
A comprehensive scan of the human genome has identified 51 chromosomal regions linked to alcohol addiction. The study provides new tools for understanding the physiological foundation of addiction and identifying individuals at risk.
Researchers developed a way to discover how genes and diet interact to cause birth defects using transparent fish embryos. They found that copper metabolism affects embryonic development, leading to insights into structural birth defects like scoliosis.
Dr. DeBose-Boyd's work may shed light on heart disease prevention and treatment through his research on HMG CoA reductase enzymes. He is one of five recipients nationwide, supporting groundbreaking research addressing fundamental mechanisms of human disease.
Scientists have discovered that an enzyme called RNA-dependent RNA polymerase is needed for paramutation, a phenomenon where one version of a gene can order another to act differently. This finding has significant implications for breeding better crop plants and unraveling complex genetic diseases, including some human health conditions.
Scientists at Duke University Medical Center have identified a gene defect linked to hereditary spastic paraplegia, a rare nervous system disease with no cure. The discovery could lead to the development of drugs targeting the defective gene and provide insights into other neurodegenerative diseases.
A recent genetic study discovered a link between beta-actin mutations and developmental brain disorders, including dystonia. The findings suggest that these mutations may play a wider role in a range of congenital diseases.
Research suggests genetics play a role in aggression, but maternal nurturing can mitigate this effect. Variations in serotonin genes are linked to aggressive behavior, especially among men with lower education levels.
A recent UCLA study found no association between the MCPH1 and ASPM gene variants and differences in brain size. The researchers used MRI scans to measure brain size in 120 healthy individuals and identified those with these genetic variations, but their findings suggest caution when interpreting evolutionary advantages of these variants.
Researchers have developed a new technique called biochemical suppression to identify protein targets for small molecule inhibitors. This method allows for rapid identification of multiple components of complex biological systems, such as cancer cell spread.
The L'ORÉAL-UNESCO awards recognize pioneering work in immunology, molecular pathology, and genetic disorders. The laureates will receive a $100K prize and international recognition for their contributions to human health.
A study published in Psychopharmacology found that genetics and environmental factors contribute to the relapse of drug-seeking behavior. The research used rat models to identify glutamate as a neurotransmitter involved in stirring cravings and uncontrollable urges. Dr. Paul J. Kruzich suggests that genetic variations may increase susc...
A study published in the American Journal of Human Genetics has identified a genetic region on chromosome 10 strongly associated with late-onset Alzheimer's disease. The researchers scanned over 1,400 single-nucleotide polymorphisms and found six genes within this region that may be involved in the development of the disease.
A global skin cancer research consortium, Genomel, has won £7m in funding to investigate the genetics of melanoma and identify those at high risk. The project will also develop a website providing information on melanoma symptoms, diagnosis, and treatment.
A team of scientists has identified the responsible gene, MMACHC, for a rare and devastating genetic disease. The discovery enables the development of early diagnosis and carrier assessment tests, improving the lives of those afflicted with the disease.
The Genetics & Public Policy Center urges the government to issue proposed regulations for a genetic testing specialty, citing concerns over the lack of oversight in the industry. The center argues that a genetic testing specialty is achievable with key quality requirements such as analytic and clinical validity.
A gene variant in Complement Factor H is associated with an increased risk of soft drusen, a precursor to advanced age-related macular degeneration. The study found that the CFH variant contributes to the development of soft drusen but does not determine who will progress to advanced AMD.
Rutgers researcher Shumyatsky has identified a new gene that controls both learned and innate fear, which may lead to the development of new anti-anxiety agents. The discovery was made through a combination of mouse genetics, cellular electrophysiology, and behavior studies.
The project aims to sequence the maize genome to understand more about plant genomes and evolve cereal genomes. Scientists will sequence a maize cultivar called B73, with the goal of identifying new genes responsible for important traits like yield and drought tolerance.
A Saint Louis University study found that genetics account for approximately 33-36% of how we feel physically and mentally. The researchers examined the health-related quality of life of 2,928 middle-age men using twins, revealing a strong genetic influence on our perception of health.
A study by the University of Chicago found that identical twins shared similar characteristics of loneliness at a rate of 50%, while fraternal twins shared at 25%. The research suggests that genetics may play a significant role in the development of loneliness, which can have severe consequences on mental and physical health.
A team of researchers from the University of Wisconsin-Madison and the University of Tokyo report a new way to generate genetically altered influenza virus. This technique improves upon a previous reverse genetics method by significantly reducing the number of plasmid vectors required, increasing the efficiency of virus production.
Scientists have discovered that large structural changes in the genome, called inversions, may account for much of the evolutionary difference between humans and chimpanzees. These inversions also shed light on genetic changes that lead to human diseases.
Researchers found that lipid levels and heart rate variability are 60-80% determined by genetics, with blacks showing a more favorable pattern of heart rate variability. The study provides new insight into the development of cardiovascular disease and may lead to targeted treatment strategies.
Researchers at Rutgers University have made new findings linking genetic variants to susceptibility to autism and schizophrenia. The study suggests that a mutated form of the EN2 gene may contribute to up to 40% of autism cases, while another gene called CAPON has been implicated in schizophrenia.
Researchers reconstructed the 1918 flu virus using reverse genetics, a technique developed by Mount Sinai School of Medicine researchers. The study reveals that the virus is extremely virulent in mice and grows rapidly in human lung cells.
A definitive gene screen has confirmed the major histocompatibility complex genes' significant influence on multiple sclerosis (MS) genetics. The study, which analyzed genetic data from over 730 families, found critical implications for future MS research directions.
A study of 199 families with multiple cases of breast cancer found that women from these families do not have an increased risk of ovarian cancer. Despite this, the genetic mechanism for up to half of hereditary breast cancer remains unknown, prompting ongoing research at Memorial Sloan Kettering Cancer Center.
Mutations in the EphB2 gene are found in 15% of African-American men with a strong family history, compared to 5% without a history. This gene mutation is associated with an increased risk of prostate cancer in African-American men, particularly those with a family history.
Cats have no way to recognize carbohydrates, resulting in a diet high in meat and fat. This is due to the pseudogenization of sweet-receptor genes, which prevents cats from tasting sweetness.
Researchers have identified new genes that regulate aging, with effects on insulin signaling, metabolism, and dietary regulation. Inhibiting these genes increases lifespan in certain organisms, suggesting potential therapeutic applications for age-related diseases.
Scientists with the UF Genetics Institute found that eliminating microRNAs from specific tissues can reveal their vital role in healthy development. The technique may provide insight into human birth defects and has potential applications in studying the function and malfunction of microRNAs, a crucial part of human gene expression.