Researchers at UCLA have identified the genetic mutation responsible for IMAGe syndrome, a rare disorder that stunts infants' growth. The discovery could lead to new ways of blocking rapid cell division and offers a new tool for diagnosing children with IMAGe syndrome.
Researchers discover mutation on same gene responsible for Beckwith-Wiedemann syndrome, a disease characterized by rapid cell division and large size. The finding enables early diagnosis and treatment of IMAGe syndrome, a rare disorder stunting infants' growth.
A Stanford University School of Medicine study has identified a homegrown genetic variant responsible for naturally blond hair in the indigenous people of the Solomon Islands, distinct from European genes. The research found that the gene variant accounted for 50% of the variance in hair color among the islanders.
A team of researchers led by Dr. Brendan Lee discovered a treatment that bypasses the enzyme deficiency causing argininosuccinic aciduria, allowing patients to receive nitric oxide through medication. This breakthrough has shown promise for treating similar conditions in hypertensive teens and individuals with organ damage.
Khan Academy and 23andMe are collaborating to educate people about genetics and the Human Genome Project. The partnership provides free educational resources, including video series and interactive tools, to help individuals understand their own genetic information.
Scientists have developed a new technique to determine which patients with homocystinuria are most likely to respond to vitamin B6 treatment based on their genotypes. The study correlates specific gene mutations with disease severity and may help physicians prescribe treatment based on genotype.
Dr. Neng Chen received the 2012 Richard King Trainee Award for her high-quality research published in Genetics in Medicine. The award encourages and recognizes outstanding publications by ABMG trainees.
Barone, a University of Pittsburgh School of Medicine student, was honored for her research on treating genetic disorders in the pediatric setting. She will receive travel costs to the ACMG Annual Clinical Genetics Meeting thanks to Signature Genomics' generous support.
The Genzyme/ACMG Foundation Awards support clinicians in biochemical genetics, with a focus on metabolic diseases. The 2012-2013 recipients, Dr. Carlos E. Prada and James D. Weisfeld-Adams, received $75,000 per year for one year of clinical genetics subspecialty training.
R. Rodney Howell, a prominent pediatrician and geneticist, has been honored with the 2012 American College of Medical Genetics Foundation Lifetime Achievement Award for his work in newborn screening and genetic research. He is recognized for his leadership role in developing and advancing the program.
The Genetics Society of America announced nine award recipients for their poster presentations at the 53rd Annual Drosophila Research Conference. The winners include undergraduate, graduate, and postdoctoral researchers who showcased their research in the field of genetics.
A new study suggests that even with a small initial virus population, HIV rapidly evolves to evade immune defenses and treatments due to mutation, recombination, and random genetic changes. This findings sheds light on the difficulty in developing an HIV cure and highlights the need for novel strategies to control the virus.
Stephanie Turner Chen has received the Larry Sandler Memorial Award for her research on the detection of carbon dioxide in fruit flies and mosquitoes. Her work provides a novel approach to mosquito control, revealing odors that inhibit their ability to detect carbon dioxide.
Researchers have developed the Collaborative Cross, a reference manual of genetic variation in hundreds of specially-bred mice and their genetic sequences, which more closely mirror human genetic complexity. This resource could aid development of more effective treatments for various human diseases.
The Collaborative Cross project in North Carolina has created a vast library of genetic material, mirroring human diversity in mice. This enables faster and more accurate understanding of genetic variation's impact on living systems, potentially leading to breakthroughs in treatment and prevention for human diseases.
The Collaborative Cross (CC) resource, a genetically diverse mouse model, will advance understanding of complex human diseases. Key findings highlight the CC's potential in identifying genes influencing various traits and human diseases.
Researchers used whole-exome sequencing to diagnose a type of severe metabolic disease, identifying the genetic mutation responsible. The study showcases the potential for this technique to aid in diagnosing congenital disorders of glycosylation, offering new hope for families affected by these conditions.
A study by the Broad Institute and University of California, Berkeley, has linked a person's immune status to the viral genetics of dengue, revealing how these two factors interact to cause severe disease. The research showed that immunity from previous infections and genetic variants of the virus combined to increase disease severity.
Whole genome sequencing technology has arrived, uncovering both useful and unwelcome medical results, including information on high-risk diseases like dementia. Regulation is crucial to ensure safe use, with a nuanced approach that balances paternalism with protection from potential harm.
A new mathematical model developed by an international research group can predict the stability of European nations and identify regions more likely to break up. The model considers demographic, economic, cultural, and genetic factors, showing a correlation between population genetics and cultural distance.
A study by San Francisco State University researchers has identified critical fertility enzymes in nematode worms, shedding light on sperm development and mobility. These PP1 phosphatases play a key role in separating chromosomes during division and propelling the sperm with a unique treadmilling motion.
Researchers at the University of Southampton have made a significant breakthrough in understanding Chlamydia trachomatis genetics, enabling the development of new treatments and potentially a vaccine. This breakthrough could lead to improved treatment options for the disease, which is often left untreated due to its asymptomatic nature.
Researchers at Einstein College of Medicine will study the genetic basis of conotruncal defects, also known as CTDs, which account for more than one-third of all heart defects. The study aims to identify novel therapies and preventive strategies for these defects.
Researchers discovered that longer flanking repeat regions and timing of genetic recombination affect the risk of genomic disorders. Studies on Smith-Magenis syndrome and Potocki-Lupski syndrome found correlations between chromosome length and genetic material loss or duplication.
Researchers found a shared, unusual genomic architecture in patients with severe diseases, including MECP2 duplication syndrome and Pelizaeus-Merzbacher Disease. This structure is associated with increased genetic material dosage and makes the disorder worse.
Researchers develop a comprehensive genetic model that integrates various types of genetic variation, including single gene changes, chromosomal alterations, and de novo mutations. This framework recognizes the importance of both inherited and new genetic variants in disease susceptibility.
A genome-wide study involving 50,000 participants has discovered 11 regions on the genome strongly associated with schizophrenia and bipolar disorder. The researchers found that several DNA variations contribute to both diseases, representing a significant advance in understanding their causes.
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 Michigan State University researcher has developed a web-based genetics curricula with the goal of making the subject more engaging and accessible to students starting in fifth grade. The system, supported by a $2.3 million NSF grant, aims to improve students' understanding of genetic-related concepts.
Jazwinski's research focuses on genetics of aging, molecular genetics, and population genetics, and has expanded to human aging with key findings on gene-gene interactions in longevity and healthy aging.
A new national collaboration of asthma genetics researchers has identified a novel gene association specific to populations of African descent, including the previously unreported PYHIN1 gene. The study also replicated four other gene associations with asthma risk, offering promising insights into the genetic roots of the disease.
A study involving over 5,000 people with ankylosing spondylitis has identified three regions of the genome strongly associated with the condition. The findings suggest that a particular process in cells and genetic variants of ERAP1 interact to affect disease susceptibility.
Researchers have identified Foxp2 as a gene that helps regulate the wiring of neurons in the brain, leading to insights into speech and language disorders. The study found that altering Foxp2 levels impacts the length and branching of neuronal projections, which modulates brain connectivity.
Research from Tel Aviv University finds that genetics play a key role in lower back pain and disc degeneration, with different genetic factors causing both conditions. The study suggests that identifying these genetic factors could lead to more effective treatment options.
The study discovered two novel genetic associations with Parkinson's disease, one near the SCARB2 gene and another near SREBF1 and RAI1 genes. The research also replicated twenty previously known genetic associations, providing strong evidence for the web-based design used in this study.
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.
The Conservation Genetics Lab uses genetic techniques to identify inbred populations and introduce new genetic variation. They also apply this technique to endangered species in captive breeding programs and use DNA evidence to catch wildlife criminals.
Researchers at Max Planck Institute for Molecular Genetics discovered a genetic cause of progressive hearing impairment: mutations in the SMPX gene. The disease affects both males and females, although women are usually less severely affected.
Researchers have made significant breakthroughs in detecting diabetes and cardiovascular disease through advanced lipid genetics. Dr. Joanne Curran discovered that dihydroceramide (dhCer) is a reliable early indicator of diabetes risk, while Dr. Sara Willems found a link between genetic variants and atherosclerosis.
A new study found that Southern European groups can attribute up to 3% of their genetic signature to African ancestry, with mixing dating back 1,600 years. Middle Eastern groups have inherited 4-15% African ancestry, and Jewish populations 3-5%.
Researchers have discovered a link between a variant of the fat mass and obesity associated gene (FTO) and an increased incidence of breast cancer. The study, published in BMC Medical Genetics, found that people with this genetic variant have a 30% higher chance of developing breast cancer.
The FASEB MARC Program has selected two award recipients for the 2011 GSA Mouse Genetics conference, recognizing poster/platform presenters and faculty mentors from underrepresented minority groups. The program aims to increase diversity in biomedical research by providing travel awards totaling $3,300.
Researchers from Jena and Prague reveal that four scientists 'rediscovered' Mendel's laws in 1900: Hugo de Vries, Carl Correns, Erich von Tschermak-Seysenegg, and Armin von Tschermak-Seysenegg. New correspondence has corrected the traditional view of genetics' early history.
A recent study published in the American Journal of Human Genetics reveals that mutations in a single gene, centrosomal NDE1, may have played a key role in shaping the human cerebral cortex. The research found that these genetic variations were responsible for microcephaly, a condition characterized by abnormally small brains.
Dr. Michael S. Watson, PhD, FACMG, receives the first ACMG Presidents' Award for his groundbreaking work in translating genetic information into healthcare use. He has been a driving force behind the American College of Medical Genetics' success.
Anna-Kaisa Niemi, a resident in Medical Genetics at Stanford University Medical Center, received the 2011-2012 Genzyme/ACMG Clinical Genetics Fellowship in Biochemical Genetics. The fellowship supports clinicians in metabolic diseases diagnosis and treatment.
Adam H. Buchanan, a board-certified genetic counselor and research scientist at Duke University, won the award for his platform presentation on telemedicine vs in-person cancer genetic counseling in rural oncology clinics. He found that telemedicine-based counseling was as well accepted as in-person counseling at less than half the cost.
Rebekah Stackpole Zimmerman received the Richard King Trainee Award for her manuscript on a custom resequencing array for Dilated Cardiomyopathy, published in Genetics in Medicine. The study validated the use of this array to sequence 19 genes associated with DCM, improving test cost and turnaround time by approximately 50%.
Pier Paolo Pandolfi has made significant contributions to cancer research, particularly in the area of leukemia treatment. His work on mouse models and chromosomal translocations has led to the development of novel therapeutic strategies, making APL a curable disease.
The FASEB MARC Program has announced the travel award recipients for the 2011 GSA 26th Fungal Genetics meeting. Three awards totaling $4,950 were conferred to underrepresented minority students and scientists. The program aims to increase diversity in biomedical research.
Scientists from the University of Oxford developed a new strategy to combat antibiotic resistance by increasing the biological cost of resistant bacteria. The approach aims to reduce the competitiveness of drug-resistant strains and prolong the effectiveness of existing antibiotics.
Dr. Stephen T. Warren, a world-renowned fragile X syndrome researcher, received the 2011 Lifetime Achievement Award in Genetics from the March of Dimes. His groundbreaking work identified the genetic abnormality responsible for this disorder and led to significant contributions to clinical settings.
A new gene-spreading system has been proposed to control mosquito populations without pesticides. The system involves spreading disease-resisting genes in mosquito populations, rendering them infertile or killing females that mate with transgenic males.
Research published in GENETICS suggests that being around the opposite sex activates genes in fruit flies that cause them to perform certain courtship behaviors. This study provides insight into the complex genetic machinery that affects social interactions, potentially leading to new understanding of disorders such as autism.
Researchers have identified new yeast genes that improve ethanol tolerance, allowing for higher ethanol concentrations in biofuel production. This breakthrough could make cellulosic ethanol economically competitive with fossil fuels.
Scientists from deCODE genetics and academic colleagues report discovering genetic markers that impact individual baseline levels of prostate-specific antigen (PSA). Analyzing four SNPs in tandem with genetic risk factors detected by the deCODE ProstateCancer test yields substantial improvement in PSA screening efficacy.
Vivian Cheung, a geneticist at The Children's Hospital of Philadelphia, received the Curt Stern Award for her pioneering work on human gene expression and its impact on disease risks. Her research has transformed the scale of human genetic studies, enabling researchers to analyze thousands of genes simultaneously.
Gökhan S. Hotamisligil, a Harvard expert on inflammation and obesity, received the 2010 Naomi Berrie Award from Columbia University Medical Center. His work focuses on the molecular basis of links between obesity, diabetes, and heart disease.
Researchers found that genetics play a significant role in determining vitamin D status during the winter months. Lifestyle choices and sun exposure are more influential in maintaining optimal vitamin D levels during the summer.