Researchers used multi-omics profiling to study prediabetic individuals, finding that each person has a unique molecular profile. The study aimed to develop personalized approaches to prevent diseases like diabetes by analyzing environmental stressors and lifestyle factors.
Rare variants combined with background genetic risk factors may account for many unexplained cases of familial breast cancer. The study identified at least 46 genes that were associated with an increased risk of breast cancer in patients with familial breast cancer.
A survey of genetics professionals found high support for research into somatic uses of gene editing, but more divided views on germline uses. Most geneticists felt it would be acceptable for therapeutic purposes in the future, differing from public opinions.
Adolescents display nuanced views on pediatric genetic testing for adult-onset conditions, with approximately half agreeing to defer testing. Students' opinions were influenced by the preventability of the condition, with those focused on early-onset diseases supporting deferral and those on preventable conditions opposing it.
Rapid whole-genome sequencing of neonatal ICU patients reveals a genetic diagnosis in 35% of cases, leading to changes in medical management and improved outcomes. The procedure saves an estimated $1.3 million per hospitalization, making it a cost-effective option.
The MyGene2 platform connects patients, clinicians, and researchers to share genetic data, phenotypes, and experiences. Over 1,000 profiles have been created, enabling matches among patients with the same disease and facilitating low-cost exome sequencing.
Researchers found duplications of noncoding DNA that may explain genetic contributions to human disease and evolution. These duplications, which include regulatory sequences, may have impacted the expression of genes nearby or elsewhere in the genome.
A group of 11 organizations has issued a statement on germline genome editing in humans, recommending against human pregnancy-related editing and supporting publicly funded in vitro research. The statement outlines scientific and societal steps necessary before implementation of such clinical applications is considered.
Daniel MacArthur receives ASHG's first Early-Career Award for his work on rare disease diagnosis using large-scale genomic technologies. The award recognizes his development of key resources, including Exome Aggregation Consortium and Genome Aggregation Database.
John J. Mulvihill, MD, receives the ASHG Mentorship Award for his sustained pattern of exemplary mentorship at various academic ranks. He has founded successful genetics training programs and mentored trainees across fields and career stages.
Kári Stefánsson to receive William Allan Award for his pioneering work on Icelandic population genetics and its impact on public education about genetics. His research has led to important insights into various diseases, including type 2 diabetes, prostate cancer, and schizophrenia.
The American Society of Human Genetics has honored Dr. Arthur L. Beaudet with the Victor A. McKusick Leadership Award, recognizing his groundbreaking work on uniparental disomy and its implications for genetic diseases. His current research focuses on neuronal carnitine deficiency as a risk factor for autism.
Dian Donnai, a clinical geneticist and educator, received the ASHG's 2017 Education Award for her efforts in human genetics education. Her research focused on understanding developmental disorders in children, and she founded several international conferences and workshops to promote collaboration.
Edward R.B. McCabe, MD, PhD, received the ASHG 2017 Advocacy Award for his extensive efforts to integrate genetics into health systems and promote funding for biomedical research. He has worked on various initiatives, including Newborn Screening Saves Lives Reauthorization Act and Zika virus public education.
Nicholas Katsanis, Director of the Center for Human Disease Modeling at Duke University, receives the 2017 Curt Stern Award for his groundbreaking research on ciliary disorders. The award recognizes his work on signaling roles of cilia and mechanisms behind rare genetic disorders.
Researchers found that providing GlcNAc supplement to Pngl-deficient flies prevents death, with nearly 70% surviving to adulthood. The study suggests a potential diet-based treatment for the rare disease NGLY1 deficiency.
Parents of children with cancer find whole exome sequencing useful for understanding the cause of their child's cancer, relieving guilt and providing reassurance for other family members. The study also highlights the importance of considering broader benefits beyond clinical actionability when deciding to disclose genetic information.
A new estimator developed by geneticists suggests that the population in Africa was likely 50% larger than previously thought and that an archaic-modern human separation date of 440,000 years ago is the best fit. The study also found that ancient populations interbred less than previously believed throughout Eurasia.
Researchers found that Zika virus disrupts fetal brain development by interfering with human neural progenitor cells, leading to microcephaly. They also identified specific small RNAs from the virus that could impact brain development and lead to microcephaly in mice.
Researchers found that adding NIPS for fetal chromosomal abnormalities to the current prenatal testing strategy in Quebec would reduce the number of amniocentesis procedures performed by about 90 percent. The Serum Integrated option, followed by NIPS for women at high risk, was the most cost-effective approach.
Early results from the BabySeq Project suggest some utility in genetically sequencing newborn infants and offer new insights into parental attitudes toward the procedure and results. The study identified potentially harmful variants in two healthy infants sequenced without a family history of genetic disease.
Researchers have identified 200 genetic loci linked to multiple sclerosis, a disease where the immune system attacks the brain and spine. The study, which analyzed over 110,000 samples, highlights the complex interplay of different immune cells in MS susceptibility.
Stanley M. Gartler, PhD, receives the 2016 Victor A. McKusick Leadership Award for his extensive research in X chromosome inactivation, somatic cells, and tumor biology. He has made significant discoveries and connections across multiple fields.
James F. Gusella, a renowned geneticist, will receive the William Allan Award for his substantial and far-reaching scientific contributions to human genetics and neurogenetics research. Dr. Gusella's work has mapped genes associated with neurological conditions such as Huntington disease, ALS, and Alzheimer disease.
Dr. David Valle will receive the Arno Motulsky-Barton Childs Award for Excellence in Human Genetics Education at ASHG's 66th Annual Meeting. He has made significant contributions to genetics education through various programs and publications, including the Predoctoral Training Program in Human Genetics.
The Canadian Coalition for Genetic Fairness (CCGF) and Senator James Cowan will receive the ASHG Advocacy Award for their work on a bill preventing genetic discrimination in Canada. The award recognizes their efforts to pass legislation protecting individuals from genetic testing and discrimination.
Elaine H. Zackai, a renowned pediatric clinical geneticist, has been awarded the ASHG's inaugural Mentorship Award for her exceptional mentorship skills. The award recognizes her commitment to guiding students towards successful careers in human genetics.
Brendan Lee receives 2016 Curt Stern Award for his groundbreaking work on human inborn errors of metabolism and structural birth defects of the skeleton. The award recognizes his significant scientific contributions over the past decade, including identifying genetic causes of chrondrodysplasia and Marfan syndrome.
The American Society of Human Genetics (ASHG) awarded prizes to the top three winners of its 2016 National DNA Day essay contest. Stella Ma's winning essay described testing for hereditary breast cancer and won her $1000 prize, while Jillian Pesce won $600 with an essay on Huntington disease.
Researchers identified genes disrupted by balanced chromosomal abnormalities (BCAs) in patients with congenital neurodevelopmental conditions. The study found that BCAs may account for a large portion of brain development and function-related birth defects.
A genetic variant near the KLF14 gene regulates fat storage in women, affecting their risk of developing Type 2 diabetes. The variant influences hip circumference, with women carrying one allele tending to have larger hips than those with the other allele.
A survey of 282 adolescents aged 12-18 found that most prefer to know secondary genetic findings, even if not medically actionable until adulthood. The main reasons cited were future planning and reducing anxiety, with some respondents expressing concern about introducing stress in their family.
Researchers reconstructed population history of New York City using genetic data, ancestry information, and electronic health records. They identified hidden patterns of relatedness among Puerto Rican residents with Steel syndrome, a genetic condition characterized by short height and spinal issues.
By analyzing the types of gut bacteria present around colorectal tumors, researchers found a correlation between microbiome composition and mutations in tumor cells. The study developed a method to predict mutation types based on microbiome analysis, which correctly identified about half of the most common mutations.
Researchers found that patients whose genomes were sequenced incurred a cost of $719 in follow-up tests and care over the following year, compared to $430 for standard treatment. The study suggests that genome sequencing may offset future costs through prevention or early treatment, but further analysis is needed.
Researchers identified a common genetic variant associated with aneuploidy, a condition causing chromosome gains and losses during embryonic development. The variant was found to be strongly linked to early pregnancy loss and IVF treatment failure.
Research at ASHG 2015 Annual Meeting found that smoking and heavy alcohol use cause epigenetic changes reflecting accelerated biological aging. Moderate alcohol consumption was surprisingly correlated with the healthiest aging outcomes.
Researchers developed an epigenetic algorithm that accurately predicts male sexual orientation by analyzing DNA methylation patterns in nine specific regions of the genome. The algorithm achieved a 70% accuracy rate in predicting male sexual orientation, providing new insights into the molecular markers underlying human sexuality.
Two Stanford University researchers, Maria Barna and Carolyn McBride, received the award for their pioneering work on ribosome processing and mosquito behavior. The Rosalind Franklin Young Investigator Award recognizes outstanding contributions to genetics research in human and non-mammalian systems.
Charles R. Scriver is receiving the Victor A. McKusick Leadership Award from ASHG for his work in human genetics, particularly in discovering and addressing inherited metabolic diseases. He has also made significant contributions to public health through pediatric genetic screening programs and education.
The Next Generation Science Standards (NGSS) show a modest improvement over state standards in genetics content, but fall short on key concepts like Mendelian inheritance. The study highlights the importance of interpreting standards consistently to ensure consistent implementation.
Leonid Kruglyak, a renowned geneticist, received the 2015 Curt Stern Award for his pioneering work on understanding gene interactions and genome-wide association studies. His laboratory has developed powerful model organisms for studying complex genetic variation.
The American Society of Human Genetics has issued a position statement on the ethical, legal, and psychosocial implications of genetic testing in children and adolescents. The statement addresses various issues related to genetic testing, including predictive testing, whole-genome sequencing, and implementation challenges.
The American Society of Human Genetics has honored Dr. R. Rodney Howell with the first-ever Advocacy Award for his dedication to leveraging biomedical advances to improve public health. He received the award at ASHG's 65th Annual Meeting in Baltimore.
Robert L. Nussbaum, Roderick R. McInnes, and Huntington F. Willard are the recipients of ASHG's Award for Excellence in Human Genetics Education. They have made significant contributions to genetics education through their work on textbooks and educational programs.
Kay E. Davies has made significant contributions to understanding Duchenne Muscular Dystrophy, a genetic disorder that causes rapid muscle weakness. Her research has led to the development of dystrophin minigenes and utrophin-based treatments, offering hope for all DMD patients.
The American Society of Human Genetics and the European Society of Human Genetics issued a joint position statement on non-invasive prenatal testing (NIPT), exploring its promise and drawbacks. NIPT has improved accuracy and safety in prenatal screening, but raises concerns about over-expansion and loss of ultrasound data.
Robert R. Gotwals, Jr., M.S., receives the Genetics Education Award for his innovative and student-centered approach to teaching genetics. He has developed resources, including a high school genetics research program and computational chemistry server, to promote genetic understanding.
Researchers have linked age-related loss of the Y chromosome (LOY) to higher mortality and cancer rates in men. LOY was found to decrease men's lifespan by an average of 5.5 years, and increase their risk of dying from cancer.
Researchers have identified a mutation in the ADAMTS20 gene as being associated with cleft lip and cleft palate in both humans and dogs. This discovery has potential implications for understanding and treating these birth defects, which can affect varying degrees of severity in affected individuals.