Articles tagged with Genetic Medicine
Research identifies DNA copy number variation (CNV) as the genetic cause behind two male pseudo-hermaphrodite horses' sex identity. The study provides the first hints about likely molecular causes and involvement of CNVs in equine disorders, with potential biomedical significance beyond horse racing.
A comprehensive catalog of mutations in Ashkenazi Jewish genomes was created to improve genomic research and personalized medicine. The study's findings shed light on the population's origins, revealing a mix of European and Middle Eastern ancestry.
Researchers have made significant breakthroughs in understanding the relationship between genetic changes and disease causation using next-generation sequencing technology. Subtle gene changes are now being associated with unique disease presentations, even in previously undiagnosed forms of disease.
Researchers at U of MD will implement genomic screening in various healthcare settings to detect monogenic diabetes, tailor treatments, and identify at-risk family members. The goal is to enhance diagnosis and treatment for individuals with genetic forms of diabetes.
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 found a fat-storage gene mutation that interferes with key enzyme in lipid metabolism, increasing diabetes risk. The mutation affects 5.1% of the Old Order Amish study participants, with four individuals having two copies of the mutation.
Two recipients, Paldeep S. Atwal and Jamie J. Barea, received the award to support their training in clinical biochemical genetics and metabolic diseases diagnosis and treatment. The $75,000 grant will sponsor one year of subspecialty training in biochemical genetics after residency.
Dr. Huma Q. Rana received the 2014 Richard King Trainee Award for her manuscript on Parkinson Disease Risk in GBA Mutation Carriers. The award recognizes outstanding research in genetics and genomics, supporting trainees' careers and promoting high-quality publications.
Jun Shen, Ph.D., was honored as the 2014 recipient of the ACMG Foundation/Signature Genomics from PerkinElmer Inc. Travel Award for her platform presentation on a novel combinatorial algorithm predicting pathogenicity of human missense variants. The award recognizes Dr. Shen's scientific merit and supports her work in medical genetics ...
A Stanford study found that whole-genome sequencing requires improved sequencing accuracy in disease-associated genes and up to 100 hours of manual assessment by genetic counselors or specialists. The technique's cost and complexity are expected to be higher than initially thought, with estimated costs ranging from $17,000 per person.
Hal Dietz, a Johns Hopkins pediatric cardiologist and geneticist, has been recognized for his groundbreaking work on Marfan syndrome. He identified the cause of the rare genetic disease and found that losartan can attenuate overgrowth of the aorta.
Scientists from the University of Manchester identified Leri's pleonosteosis as caused by extra genetic material on chromosome 8. The condition is also linked to scleroderma and offers opportunities for understanding and treating both diseases.
The Clinical Genome Resource (ClinGen) aims to develop a framework for evaluating genomic variants relevant to disease and patient care. The grants will support the development of standards formats for data deposition and analysis, as well as categorization of clinical relevance for variants.
The journal provides a series of research articles detailing challenges and solutions for integrating genomic data into EHR. Studies discuss the need for patient involvement in decisions about their genomic information, as well as the potential of Genomic Decision Support to improve care.
Researchers at Johns Hopkins Children's Center have identified a genetic pathway implicated in various allergic disorders, including asthma and eczema. A faulty protein called transforming growth factor-beta (TGF-beta) disrupts immune cell function, leading to the development of allergies.
Research reveals that focusing on coding regions through high-depth coverage whole genome sequencing can accurately identify genetic variations behind CMT, outperforming exome sequencing. Exome sequencing offers greater sensitivity and fewer false positives due to its higher coverage, providing a superior approach for precision medicine.
Bioethicists argue that patients should not be forced to receive genomic information about future health risks without their consent. The ACMG recommendations on reporting incidental findings in clinical genome sequencing are seen as problematic due to concerns over patient autonomy and cost implications.
A new study has identified a genetic risk factor for persistent pain after traumatic events, such as motor vehicle collisions and sexual assaults. The research found that variation in the gene encoding for the protein FKBP5 is associated with a higher risk of moderate to severe neck pain six weeks after a motor vehicle collision.
Caleb P. Bupp, a medical geneticist, received the 2013 ACMG Foundation/Signature Genomics Travel Award for his presentation on twenty years of neural tube defect surveillance and prevention in South Carolina. The award recognizes young researchers in the field of medical genetics and genomics.
Lindsay Burrage and Shane Quinonez received the 2013-14 Genzyme/ACMG Foundation Medical Genetics Training Award in Clinical Biochemical Genetics. The award provides $75,000 per year for one year of clinical genetics subspecialty training in biochemical genetics after residency.
Researchers recommend exploring genetic testing to identify people at high risk for preventable diseases, with the technology becoming increasingly accessible and affordable. A carefully selected panel of genetic tests could avert disastrous health consequences in individuals at high risk.
The precise determination of genomic information is hindered by a lack of understanding of sequence variations. Interdisciplinary teams are needed to address the substantial uncertainty in interpreting genomic data for better application.
Researchers discovered a novel syndrome caused by mutations in the ASXL3 gene, characterized by non-specific symptoms and intellectual disability. The study provides a molecular definition of this condition, which is difficult to distinguish from Bohring-Opitz syndrome, and highlights the importance of sharing genomic data.
Douglas Coleman, a retired Jackson Laboratory scientist, has won the Frontiers of Knowledge Award in Biomedicine from the BBVA Foundation and the King Faisal International Prize in Medicine. His work, alongside Jeffrey Friedman's, revealed chemical and genetic factors involved in appetite control and obesity.
A recent study published in Genome Medicine found great diversity in biobanks, with varying organizational structures, specimen types, and purposes. The research emphasizes the need for standardized policies to govern these collections and make samples available for research.
A five-year NIH grant supports a program to develop resident genomic pathology curriculum, expanding pathologists' role in interpreting and acting on genomics data. The initiative aims to bridge the gap between genetic research and practical application in patient care.
A large-scale study on newborn screening for fragile X syndrome reveals the high prevalence of the premutation allele among carriers. The research identifies one in 209 females and one in 430 males with the premutation, highlighting the need for better understanding of its impact on families and systems.
A study by University of California, San Diego researchers describes markers and a model that quantify how aging occurs at the level of genes and molecules. The findings provide a way to determine a person's actual biological age from just a blood sample.
Genomic medicine provides pharmacogenomic information to forecast therapy responses and genomic susceptibility testing to predict disease risks. However, this added knowledge may pressure patients to comply with doctors' recommendations and shift responsibility for health care decisions from doctor to patient.
Researchers uncover nearly 358 genetic variants associated with disease predisposition, including rare regulatory variants that were previously undetectable. This study sheds new light on the complex role of gene regulation in human diseases.
Current genomic research resources and bioinformatics methods are insufficient for personalized genomic medicine, citing shorter linkage disequilibrium regions and unprobed variants.
Dr. Harry Dietz has been recognized for his groundbreaking work on Marfan syndrome, an inherited connective tissue disorder that affects approximately 1 in 5,000 people worldwide. His research has identified the genetic cause of the disease and a potential treatment using an FDA-approved high blood pressure medication.
Researchers have identified over 50 genes linked to age-related macular degeneration, including those involved in inflammation and wound healing. These findings may lead to new diagnostic methods and treatment targets for the disease.
The study improves computational tools for medical interpretation of genomes, enabling disease-risk prediction and personalized medication responses. The research involves a four-person family with a history of blood clotting, allowing for the identification of genetic variants associated with health risks.
Researchers at Mount Sinai School of Medicine will identify genetic markers for each patient enrolled in the study, inputting them into electronic medical records for tailored treatment. The study aims to improve management of heart disease risk factors and prevent onset.
Researchers identified three new susceptibility loci for adult asthma in the Japanese population through a genome-wide study of 4836 individuals. The findings provide insights into the genetic factors contributing to asthma and may lead to more effective treatment techniques.
Researchers have identified three new genes associated with the risk of progressive supranuclear palsy (PSP), a rare neurodegenerative disease. The study found that genetic variations in EIF2AK3, STX6, and MOBP contribute to PSP risk, while also shedding light on the underlying cause of the disease.
A recent analysis found that genetic predisposition was cited in 468 Canadian legal cases, particularly in workers' compensation cases, which may diminish the impact of other factors. This raises concerns about the interpretation of complex genetic information by non-experts.
A genome-wide association study found a novel risk variant on chromosome 17q21 that is common in African American men but rare in other populations. This discovery builds on previous research identifying a risk region on chromosome 8q24, suggesting a genetic contribution to racial disparities in prostate cancer risk.
Advances in technology have reduced sequencing gene costs to $1,000, but analyzing genomic data for personalized medicine remains costly. New trends in bioinformatics, such as commercial drug discovery and collaboration, are helping reduce the burden.
Researchers have identified a gene, HLA-A*3101, that increases the risk of developing a severe skin reaction to carbamazepine in Caucasian patients. This discovery complements previous findings in Asian patients and may lead to more effective treatment strategies for patients with epilepsy.
The Genetic RIsk Prediction Studies (GRIPS) Statement provides a checklist to enhance the transparency of study reporting in genetic risk prediction studies. This will improve the synthesis and application of information from multiple studies, increasing consistency and accuracy in clinical practice.
Experts warn that unrealistic expectations about genomic medicine have created a 'bubble' that must be deflated to ensure long-term benefits. They recommend reappraising funding priorities and promoting responsible scientific claims to avoid diversion of resources and premature implementation.
A new commentary by four experts cautions against inflated expectations in genomics research, highlighting the need for balance and realism. They recommend reevaluating funding priorities, fostering statistical rigor, and developing high-quality evidence before integrating genomic ideas into medical practice.
A specialist in genetic medicine is leading a multi-national team investigating the genetics of immune system disorders, including NIMBL conditions such as Aicardi-Goutières Syndrome and Systemic Lupus Erythematosus. The €7.5 million project aims to improve patient care and develop treatments for these devastating genetic disorders.
The NIH is expanding its Pharmacogenomics Research Network (PGRN) with a $161.3 million investment over five years. The network aims to develop novel research methods and study the use of pharmacogenetics in underserved populations, including rheumatoid arthritis and bipolar disorder.
Researchers have discovered two novel biomarkers for stroke and coronary heart disease in postmenopausal women. Beta-2 microglobulin levels were significantly elevated in CHD patients, while insulin-like growth factor binding protein 4 was strongly associated with stroke risk.
Researchers have identified a genetic cause of inherited conditions causing severe fetal abnormalities, potentially leading to treatments for related disorders. The study found that the faulty gene stops cells' 'antennae' from transmitting information.
Researchers use whole-genome sequencing to identify increased risk of cardiovascular disease, type 2 diabetes, and certain cancers in a patient. The study also reveals genetic variants associated with good response to statins, resistance to clopidogrel, and lower maintenance dosing of warfarin.
Dian Donnai, a leading expert on rare genetic diseases, has been awarded the March of Dimes/Colonel Harland Sanders Award for her pioneering work in defining and researching rare genetic conditions such as Williams syndrome. Her contributions have improved the lives of millions affected by these diseases.
Researchers developed a molecular diagnostic tool that uses targeted genetic sequencing to screen for variations in 362 genes associated with mitochondrial disease. The new method accurately identified the mutation underlying each patient's condition, increasing sensitivity for diagnosing previously unknown genes.
A Stanford professor has successfully sequenced his entire genome for under $50,000 and with a team of just two people. The breakthrough demonstrates that genome sequencing can be democratized, enabling anyone to access the information, which can lead to personalized medicine and better understanding of traits and health.
A team of researchers has identified the first gene associated with age-related cataracts. EphA2 encodes an enzyme that plays a role in repairing damaged proteins in the lens, which becomes cloudy and obstructs vision. The discovery provides new insights into the underlying causes of this leading cause of blindness.
A new gene called DEAR1 has been found to be genetically altered in breast tumors and may provide a new prognostic marker for breast cancer patients, particularly those with early-onset cancer. The research suggests that DEAR1-negative staining could help identify young women at high risk of cancer recurrence.
Arno G. Motulsky, a pioneer in medical genetics, was awarded the inaugural ACMG Foundation Lifetime Achievement Award for his outstanding leadership and contributions to the field. The award recognizes his work as a founder of pharmacogenetics and his impact on training generations of geneticists.
A study by the University of Edinburgh found a gene called DISC1 may control how patients respond to psychiatric medication, offering a potential breakthrough in treating mental illnesses. The research identified seven proteins important to mental illness development, aiming to create new medicines targeting these proteins.
Researchers from Boston University School of Medicine have developed a prenatal testing method for identifying tuberous sclerosis complex (TSC) in the womb. The technique, which sequences TSC genes in amniotic fluid cells, has been shown to detect nearly 93% of mutations, offering improved treatment options for affected families.
The new journal Genomic Medicine bridges the gap between research and clinical practice, providing open access to high-quality research articles. The journal features columns by leading experts on genomic medicine and its applications.
The Genomic Psychiatry Cohort aims to identify genetic factors leading to schizophrenia and bipolar disorder in a large-scale population study. The initiative, led by USC researchers, will collect data from 40,000 subjects and become a major resource for researchers worldwide.
The launch of BioMed Central's Genome Medicine journal marks a significant milestone in the field of personalized medicine. The journal will focus on the latest technologies and findings impacting human health and disease, covering topics such as genomics, epigenetics, and computational approaches to disease management.