Research at ASHG 2014 Annual Meeting uses genetic analysis to break down complex conditions like Type 2 Diabetes and obesity into their underlying metabolic proteins. This approach enables the development of new drugs that directly target these processes, with potential treatments on the horizon.
Researchers found that women with children carrying high-risk HLA genes are more likely to develop rheumatoid arthritis. The study suggests a possible link between fetal microchimerism and the disease, which may be mediated by interactions between immune system proteins encoded by these genes.
A recent study found that a region of the genome associated with autism contains genetic variation that evolved in the last 250,000 years, likely playing an important role in disease. This variation is characterized by segments of DNA being deleted or duplicated, a common cause of autism and other conditions.
The ASHG/NHGRI Genetics and Education Fellowship aims to help early-career geneticists expand their skills and network for a career in genetics education. Ms. Tuck's diverse experience will be leveraged to address challenges in genetics education.
The American Society of Human Genetics and National Human Genome Research Institute have awarded a genetics and public policy fellowship to Katherine D. Blizinsky, PhD. The 16-month appointment aims to develop and implement genetics-related health and research policy at a national level.
A genome-wide meta-analysis of COPD patients has identified novel gene variants associated with bronchodilator responsiveness. The study used data from over 6,000 patients and found that genetic determinants likely influence response to inhaled medication.
Researchers analyzed genealogical and medical records of Utah males, identifying distinct Y chromosomes associated with a significant excess risk of prostate cancer. The study found that nearly 73 out of 1,000 Y chromosome groups had a higher incidence of prostate cancers than expected.
Researchers used a genomic sequencing approach to evaluate all 24 genes implicated in breast cancer in women with normal BRCA genes. The study found that over 25% of these patients carried cancer-predisposing mutations in genes other than BRCA1 or BRCA2.
Researchers pinpointed the DCHS1 gene as responsible for the most common form of mitral valve prolapse, a condition that leads to heart failure. The gene disrupts heart valve development and growth, causing structural integrity issues in the mitral valve.
Scientists identify correlation between genetic variation and microbiome composition, suggesting role of host immunity in bacteria levels across the body. The study highlights the complex interaction between human genetics and the microbiome, with potential implications for disease susceptibility.
A new study found a significant gene-diet interaction between processed meat consumption and genetic variants associated with reduced risk of colorectal cancer. The study suggests that understanding these interactions may lead to targeted prevention strategies for individuals at higher risk.
Researchers identified a link between rare RINT1 gene variants and increased risk of early onset breast cancer. The study found that these variants may also predispose individuals to other types of tumors, highlighting the potential for RINT1 to play a broader role in cancer susceptibility.
Scientists have successfully silenced extra chromosome 21 in laboratory cultures of patient-derived stem cells using a gene-silencing strategy. This approach reveals genome-wide changes and offers hope for identifying cellular pathways deregulated in Down syndrome, paving the way for potential therapeutics.
A new study found that more than 85% of US states have inadequate genetics standards for preparing high school students for personalized medicine. The study, published by the American Society of Human Genetics, rates only seven states as 'adequate' in genetic literacy.
Maurice Godfrey received a $10,000 grant from ASHG to develop an electronic version of a successful print-based educational game teaching about genetics, medicine, and ethics. The project aims to improve genetics education for students from grades 7-20.
A recent survey of DTC genetic testing customers reveals their motivations, attitudes, and responses to testing. The study found that early adopters are generally satisfied with services, citing curiosity, risk assessment, and ancestry as top reasons for purchasing tests.
New research presents findings on patient and physician understanding and use of family health history to assess disease risk. Family health history information is shown to be a useful and accurate tool for assessing an individual's risk of developing various diseases.
A study of Amish individuals found a rare mitochondrial haplogroup X associated with successful aging, while another haplogroup J had a negative association. The research suggests that genetic variants may play a role in maintaining physical and cognitive function in older age.
Dr. Jurg Ott receives the prestigious William Allan Award for his groundbreaking research on linkage analysis and complex disease, advancing genome-wide association scans (GWAS) and related techniques. His contributions have had a significant impact on human genetics, including analyzing gene linkages for various genetic disorders.
A recent White Paper report by the American Society of Human Genetics (ASHG) highlights issues with genetic ancestry testing, including imprecise definitions and lack of standard guidelines. The task force recommends a collaborative approach among stakeholders to address concerns and develop best practices.
The American Society of Human Genetics presents the 2009 William Allan Award to Dr. Huntington F. Willard for his seminal findings in understanding chromosome structure and behavior. Willard's work has been instrumental in advancing human genetics, with a focus on X chromosome inactivation and centromeres.
The American Society of Human Genetics hosted its fourth annual DNA Day essay contest to educate students and teachers about genetic science. The contest challenged high school students to write original essays on the genetic basis of various traits, including health and disease. ASHG received over 300 submissions from around the world.
The American Society of Human Genetics honors Dr. Haig Kazazian with the 2008 Allan Award for his substantial scientific contributions to human genetics. The award recognizes his pioneering research on transposable elements and their role in causing mutations leading to human disease.
The American Society of Human Genetics workshop presents an overview of early childhood cardiac disorders and their impact on quality of life in adulthood. Panelists discuss recognizing asymptomatic cardiac conditions and understanding the role of environmental factors in cardiovascular disease.