Dr. Tamanna Roshan Lal, a board-certified Pediatrician, received the $75,000 award to support her clinical genetics subspecialty training in biochemical genetics. The fellowship will provide advanced training in Clinical Biochemical Genetics and Lysosomal Storage Diseases.
Researchers from Baylor College of Medicine discovered that OTUD6B gene mutations cause a spectrum of physical and intellectual deficits. The study found 12 individuals carrying mutations in OTUD6B with similar clinical characteristics, including severe intellectual disability and cardiovascular problems.
A new mathematical model of Plasmodium falciparum's metabolism reveals its essential genes and thermodynamic bottlenecks, enabling potential mechanisms to target with drugs. The model integrates genetics and metabolomics data, allowing for the formulation of testable hypotheses and accelerating novel antimalarial drug discovery.
Sureni V. Mullegama received the ACMG Foundation/PerkinElmer Diagnostics Travel Award for her platform presentation on Diagnostic Utility of Clinical Exome Sequencing in Autism Spectrum Disorder. She is currently a second year ABMGG Clinical Molecular Genetics Fellow at UCLA.
Allison Mitchell, MS, CGC, has received the ACMG Foundation Carolyn Mills Lovell Award for her work on clinical implementation of novel, preemptive pharmacogenomic testing for newborns. The award recognizes genetic counselors' expanding roles in genomic medicine and their contributions to patient care.
Dr. Rebecca Ahrens-Nicklas received the 2017 Richard King Trainee Award for her research on medium-chain acyl-CoA dehydrogenase deficiency in exclusively breastfed neonates. Her study identified the risk of early decompensation, highlighting the importance of close management of feeding difficulties.
Dr. Laird G. Jackson received the 2017 ACMG Foundation David L. Rimoin Lifetime Achievement Award for his pioneering work in prenatal genetic testing and pediatric genetics. He is recognized for his dedication to teaching and mentorship, as well as his groundbreaking research on Cornelia de Lange Syndrome.
A recent study by University of Kansas researchers found that people's political leanings and their own weight shape their opinions on obesity-related public policies. Republicans tend to believe eating habits cause obesity, while Democrats who identify as overweight are more likely to attribute the issue to genetics.
Researchers analyzed over 60,000 individuals and found five with extreme numbers of genetic changes that couldn't be explained by random events. These copy number variants were predominantly gains in genes and present in all cells, suggesting they occurred early in embryonic development.
Researchers at Osaka University developed a plasmid-based reverse genetics system to study rotavirus invasion and replication. The system allowed them to mutate a key protein, NSP1, and decrease viral replication.
Research suggests that both patient genetics and HIV viral genome mutations impact disease progression, with human genetic variation explaining 8.4% of variation in viral load.
Researchers have successfully produced live cows with increased resistance to bovine tuberculosis using a modified version of CRISPR gene-editing technology. The new method resulted in no off-target effects on the animals' genetics, making it a promising approach for producing transgenic livestock.
A new translation of Mendel's 1866 paper reveals a more engaged and influenced scientist, with connections to contemporary theories of evolution. The work offers insights into the creation of genetics and challenges long-held debates among philosophers and historians.
Genome editing offers promise for treating genetic disorders but raises major technological and ethical concerns. The ACMG Board of Directors emphasizes the need to overcome current limitations and address issues such as off-target effects and epigenetic marks.
A University of Florida study found that discrimination interacts with certain genetic variants to alter blood pressure and increase the risk of hypertension. Vicarious unfair treatment, or experiencing discrimination through close friends and family, also had a significant impact on stress levels.
Scientists have discovered a new mutation in the PKD1L1 gene associated with laterality defects and complex congenital heart disease. The study provides hope for affected families by offering prenatal or pre-implantation genetic diagnosis to prevent the condition from being passed on.
Researchers have identified six loci linked to personality traits and found correlations between these traits and distinct psychiatric disorders. Personality factors such as extraversion and neuroticism were associated with specific genetic variants.
Researchers used whole exome sequencing to analyze nearly 7,400 patients, identifying a genetic cause in 28 percent. The study shows that multiple genes can be involved in complex diseases, leading to imprecise diagnoses. A unified analysis combining clinical and genetic features provides more precise diagnoses.
Research found that genetics and early environment significantly influence the gut microbiome, with similar genes linked to human diseases like arthritis and diabetes. The study also discovered a strong correlation between specific microbes and T-helper cells in the blood.
Researchers at Einstein College of Medicine are studying the genetic basis of congenital heart disease, with a focus on rare syndrome 22q11.2 deletion syndrome. The goal is to discover why some individuals have severe disease while others have mild presentations.
The American College of Medical Genetics and Genomics has released updated recommendations for reporting secondary findings in clinical exome and genome sequencing. The new list, ACMG SF v2.0, includes four additional genes and one removed gene, totaling 59 medically actionable genes recommended for return. The updates aim to provide s...
A recent study published in Crop Science journal has found enhanced wheat curl mite control in genes, leading to the development of a new screening protocol. The research team identified the genetic markers responsible for resistance to the wheat curl mite and its associated diseases, such as wheat streak mosaic virus.
A study published in PLOS Genetics identified two genetic variations linked to age-related hearing impairment, shedding light on the disorder's biological basis. The research used a large cohort of patients' electronic medical records and genome sequences to discover these genetic links.
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 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.
A nationwide genomic study of 800 Danish high school students found that the population is genetically similar, with subtle traces of historical impact on genetic variation. The study suggests that people have mixed freely between different parts of the country, leading to a relatively homogeneous population.
A University of California, Davis, study published in PLOS Genetics has identified a genetic component contributing to mosquitoes' host choice between humans and animals. Researchers sequenced the genomes of mosquitoes fed on humans and cattle, finding a chromosomal rearrangement called the 3Ra inversion linked to cattle feeding.
Researchers found that genetic clustering of southern African populations is closely tied to the ecogeography of the Kalahari Desert region. The study analyzed genome-wide data from 21 KhoeSan groups and identified five primary ancestries, suggesting a geographically complex set of migration events.
Researchers aim to understand the genetics and underlying biological mechanisms that lead to IPF. They will analyze genetic information on over 1,200 families to identify new genes causing the disease.
Researchers have linked a neurodevelopmental disorder to a mutation in the SON gene, which plays a crucial role in essential cellular processes. The discovery provides a new diagnostic tool and offers potential treatment options for patients with this condition.
A recent study published in Nature Neuroscience has made significant progress in understanding the role of proteins in synaptic transmission. The researchers identified two variations of a protein called Unc13 that work separately to regulate synaptic function, paving the way for new diagnostic and therapeutic approaches.
Researchers identified 930 genes associated with excessive drinking behavior in genetically diverse rats, indicating a complex trait influenced by many genes and the environment. The study confirmed previously linked genes and uncovered new genetic pathways, some of which could be targets for treatment.
A study published in PLOS Genetics has identified hundreds of genes associated with alcohol preference in rats, suggesting a strong genetic component to alcoholism. The research found that critical regulatory pathways involving several genes were crucial in regulating the desire to drink alcohol.
The American College of Medical Genetics and Genomics has released an updated position statement on noninvasive prenatal screening for detection of fetal aneuploidy. The guidelines provide recommendations for obstetric care providers and patients regarding the use of noninvasive prenatal screening (NIPS) in prenatal practice.
A study of 500,000 people found that shared lifestyle and surroundings contribute significantly to a person's risk of disease. Factors such as shared living space and eating habits make a major contribution to diseases like high blood pressure and heart disease.
Researchers found cavefish have high body fat levels and insulin resistance but remain healthy. They may hold the key to understanding human diseases like non-alcoholic fatty liver disease and type 2 diabetes.
A new mouse study shows that diet response is highly individualized and dependent on genetic composition. The researchers found that different mice strains responded differently to various diets, including Western, Mediterranean, and ketogenic diets.
A recent study published in the Journal of Personality and Social Psychology found that genetics account for approximately half of the differences in character traits among individuals. Environmental factors outside of home and school environments influence the remaining variation in character, with certain personality traits driving l...
A new tissue-engineering method allows for forward genetics screening on human tissue, identifying 38 driver genes associated with colorectal cancer progression. The recellularized human colon model replicates key features of CRC and provides a controlled environment to study gene expression.
A comprehensive study of the genetics of type 2 diabetes has unveiled significant details about the disease's underlying mechanisms. The research identified common genetic variants that contribute to an individual's risk of developing the disease, as well as genes and proteins directly involved in its development.
National experts recommend steps to integrate genomics into clinical practice, addressing challenges such as interpreting DNA findings, patient education, and sharing data across centers. The recommendations provide guidance for clinicians and patients on how to use genomic testing results in making health care decisions.
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.
A large-scale genetic study has identified 38 new susceptibility loci for migraine, with most variants overlapping with genes regulating the vascular system. The findings support the importance of blood vessels in migraine attacks and hold promise for developing personalized treatments.
The ACMG Foundation has received a $165,000 commitment from Pfizer to provide fellowship grants for clinical genetics training. This funding will support the education and research of fellows in medical genetics.
Research links loss of Y chromosome in blood cells to increased risk of developing Alzheimer's disease in men. A study of over 3,200 men found that those with an existing diagnosis of AD had a higher degree of lost Y chromosome, and LOY was also a marker for the likelihood of developing the disease.
Researchers are exploring genetically modified pigs as a valuable alternative to rodent models for cancer research, leveraging precision-genetics and genetic similarities between swine and humans. This approach could lead to more accurate modeling of the disease and identification of effective treatments.
A study in GENETICS identifies the first gene associated with temperature-dependent sex determination in reptiles, highlighting the role of genetic variation and climate change. The research found that a specific DNA sequence variation at the CIRBP gene influences sex ratio in snapping turtles.
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.
A new study found that public understanding of genetics can reduce stereotypes on homosexuality and gay marriage by making same-sex relationships less stigmatized. The researchers discovered that attributing homosexuality to genetics leads to more favorable stereotypic judgments about homosexuals.
Dr. Prasit Phowthongkum is the recipient of the 2016 Horizon Pharma/ACMG Foundation Award, which provides $40,000 per year to support his one-year fellowship training in clinical genetics. The award aims to advance education, research, and standards of practice in medical genetics.
Jessica Tenney, MD, wins the 2016 ACMG Foundation/PerkinElmer Diagnostics travel award for her poster presentation on acrofacial dysotosis. The award recognizes her scientific merit and supports the development of medical genetic researchers.
The Sanofi Genzyme/ACMG Foundation Medical Genetics Training Award in Clinical Biochemical Genetics supports training programs advancing education, research, and standards of practice in medical genetics. The award grants $75,000/year to two recipients' institutions for clinical and research experience.
Gozde Akgumus, a genetic counselor at the Children's Hospital of Philadelphia, received the 2016 Carolyn Mills Lovell Award for her work in cancer diagnostics. The award recognizes the contributions of laboratory genetic counselors to patient care and genomic research.
The Pfizer/ACMG Foundation Clinical Genetics Combined Residency for Translational Genomic Scholars Fellowship Award supports training in biochemical genetics, lysosomal storage diseases, and therapeutics. The award grants $75,000 per year to two recipients selected by the ACMG Foundation.
Katherine M. Dempsey, a genetic counseling student at the University of Texas, has won the 2016 Richard King Trainee Award for her groundbreaking research on mismatch repair deficient tumors and Lynch Syndrome. Her work explores the inherent heterogeneity in families with apparent predisposition to colon cancer.