Articles tagged with Genetic Medicine
Four developing countries are leading the way in establishing domestic capacity for genomic medicine, improving national health, reducing medical costs and bolstering economies. Mexico's program is the most comprehensive, with genotyped over 1,200 people to study genetic relationships with various health problems.
Researchers discovered a mutation in the MESP2 gene, which completely disrupts its function, leading to congenital vertebral abnormalities. The study provides hope for identifying and preventing Spondylothoracic Dysostosis, a rare genetic disorder affecting Puerto Rican populations.
A new global alliance for pharmacogenomics is launching, aiming to identify genetic factors contributing to individual responses to medicines. Initial projects will focus on understanding breast cancer treatment effectiveness, pancreatic cancer side effects, and drug-induced heart rhythm disorders.
A new study reveals that health professionals and the public lack preparation to integrate genetic testing into practice. The study suggests that education and training are needed to address this gap, with potential solutions including increasing the size of the genetics specialty workforce.
Genomic medicine shows modest positive effects on psychological outcomes and consumer interest in genetic testing to identify disease risks, but faces significant barriers to integration, including inadequate workforce knowledge and confidence.
Researchers have uncovered multiple new genetic risk factors for systemic lupus erythematosus (SLE), a disease affecting joints, kidneys, heart, lungs, brain, and blood. The study found associations with three genes: ITGAM, KIAA1542, and PXK.
Genetic Alliance has named Genetic Testing as its official journal, a peer-reviewed publication reporting on genetic testing aspects. The alliance aims to advance healthcare through informed decision-making and partnership among stakeholders.
A recent study published in the American Journal of Human Genetics reveals that chromosomal abnormalities contribute substantially to autism, with 7% of children carrying unique genetic changes. The researchers identified 13 regions of the genome with overlapping or recurrent chromosomal changes in unrelated individuals with autism.
A $12.5 million grant from Charles Bronfman will establish the Charles Bronfman Institute for Personalized Medicine, transforming medical practice with genomics-based strategies for disease detection and treatment. The gift will seed a $30 million initiative to advance personalized medicine at Mount Sinai.
Researchers at UCSD School of Medicine discovered a genetic mechanism that can both drive tumor growth and act as a tumor suppressor. This finding could lead to new cancer therapies by targeting aneuploidy, a characteristic of cancer cells with extra or missing chromosomes.
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.
A recent study published in The British Journal of Psychiatry found that genetic inheritance is the main cause of unexplained disabling fatigue in children. The research, conducted at Cardiff University, suggests that familial influences play a significant role in both short- and prolonged-duration fatigue.
A study of 50 pairs of fraternal twins with hearing loss identified a specific region of DNA, DFNA18 on chromosome 3, that may contain an important locus for hearing loss in the general population. The findings suggest variation in genes within this region could lead to differences in susceptibility to hearing loss.
Researchers at Yale University found that myelin physically limits axonal growth and regeneration after traumatic injury. Blocking vision in one eye normally alters ocular dominance only during critical development, but mutations in the Nogo-66 receptor affect abnormal plasticity later in life.
A new Stanford study has found that self-identified racial and ethnic groups correlate strongly with their genetic profiles, with an error rate of less than 0.14%. The research, involving 3,636 participants, challenges the idea that race is a social construct with no genetic basis.
A team of Hopkins researchers is using new genome searching technologies to identify genetic factors contributing to autism. They will analyze data from 465 families and 979 individuals with autism, focusing on rare genetic mutations and extra or missing gene copies.
A Stanford study reveals that shared genetic data can be linked to individuals through common DNA sites, raising concerns over patient anonymity. The researchers propose firewalls and secure access controls to protect sensitive genetic information.
Researchers Drs Sun and Arceci find that loss of PASG gene results in reduced genomic methylation and premature aging in mice. The study reveals a potential model for studying aging and epigenetic regulation, with implications for cancer predisposition and therapeutic targeting.
A new study by Northwestern University researchers reveals that nearly 80% of patients have a moderate or high genetic risk for adult-onset conditions. Using family history questionnaires and three-generation pedigrees, the team identified twice as many individuals at increased risk than documented in patient charts.
Researchers found two Navajo patients missing the osteoprotegerin gene, leading to a rare bone disorder characterized by fast bone formation and breakdown. The study provides a genetic cause for Juvenile Paget's Disease (JPD) and sheds light on bone metabolism control.
The new section aims to explain the relevance of new research in genetics and molecular biology to practising clinicians. Key findings include associations between genetic sequences and disease, as well as the potential of proteomic analysis to further our understanding.
A study by UW researchers found that genetic taste markers do not affect the enjoyment of chocolate, and that sweetness and fat can mask bitter flavors. The study showed that women who were more sensitive to bitter tastes preferred lattes over straight espresso coffee.
Researchers at University of Wisconsin-Madison have identified the genetic basis of Alexander disease, a rare and devastating childhood brain disorder. The discovery confirms mutations in the GFAP gene as the cause, leading to an abnormal protein buildup that damages the nervous system.
A recent study published in the Proceedings of the National Academy of Sciences found that Jewish men share a common set of genetic signatures with non-Jews from the Middle East, including Palestinians, Syrians, and Lebanese. This suggests that Jews and Arabs are more closely related to one another than to non-Jews from other areas of ...
Researchers are conducting a national genetic study to identify the genetic markers that contribute to Parkinson's disease. The study aims to enroll 600 pairs of siblings with Parkinson's disease, using information from the U.S. Human Genome Project to isolate genetic markers.
Researchers identified a biological marker that predicts breast cancer return in some women, with higher levels of damaged p53 protein found in those whose cancer recurred within four years. The finding may lead to personalized treatments, such as higher doses of radiation and novel therapies.
A genetic defect in the norepinephrine transporter has been identified as a key player in orthostatic intolerance, a condition that causes racing hearts, nausea, and dizziness. The discovery may lead to new understanding of blood pressure control and treatment strategies for this common clinical problem.
A recent Yale Cancer Center study reveals that many experienced cancer genetic counselors would pursue genetic testing for BRCA or HNPCC mutations despite concerns about discrimination. However, the majority would not bill insurance companies or use aliases, and would only share test results with physicians.
A Mayo Clinic study found that a genetic defect known as long-QT syndrome may be the cause of many unexplained drownings. The research identified a genetic mutation in a 19-year-old woman who died after a near-drowning, and subsequent testing revealed that her mother and sister also had inherited the condition.
A genetic trait has been found to predispose people to Gulf War syndrome, a condition where veterans of the war may have gotten ill from chemical exposures. The study reveals that people with high levels of a specific enzyme did not get sick, while those with low levels did.
A team of researchers has determined that a gene on chromosome 12, previously suspected to be a strong genetic risk factor for Alzheimer's disease, cannot be replicated. Despite the initial findings, there is strong evidence for another genetic defect elsewhere on the chromosome that causes Alzheimer's disease.
Scientists have uncovered a genetic cause for urinary tract disorders, linking GATA-2 protein to proper genitourinary tract development. The finding paves the way for diagnostic and treatment strategies for bladder and kidney disorders in newborns.
A team of scientists found a shared genetic marker among Jewish priests, linking them to the Biblical high priest Aaron and confirming ancestral ties between Sephardi and Ashkenazi communities. The study estimated the most recent common ancestor lived between Exodus and Temple destruction around 586 B.C.E.
Research found genetic make-up plays a significant role in determining individual responses to cholesterol-lowering drugs like Lovastatin. A gene variant associated with unresponsiveness was identified, suggesting that 1 in 12 individuals may not benefit from the treatment.
Researchers found a genetic mutation that increases susceptibility to allergies, making individuals 10 times more likely to develop allergies. The discovery could lead to targeted medications and help identify high-risk individuals for intervention strategies.
Researchers at Johns Hopkins Medicine found that the gene KVLQT-1 is imprinted nearly everywhere in the body, but not typically in heart cells. This selective imprinting may explain why changes to the gene have different effects on heart rhythm and growth disorders.
Researchers at Duke University have developed a new approach to gene therapy that uses enzymes to edit faulty genetic messages in living cells. The study, published in Nature Medicine, demonstrates the potential for correcting genetic defects and may lead to treatments for diseases such as sickle cell anemia and AIDS.