Articles tagged with Genetic Resources
Researchers have compiled the largest human genetic variation catalog, involving over 1,000 individuals from 14 ethnic groups. The massive resource will help medical researchers find the genetic roots of rare and common diseases in populations worldwide.
The UCSF project provides a large publicly available resource to help researchers determine the importance of genes in mice. The resource includes 162 gene-disrupting vectors, 64 new stem cell lines, and 46 new strains of mice with missing microRNAs.
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 oceans' untapped genetic resources hold huge potential for medicines, foods, and biofuels. International agreements are required to ensure equal benefits from these resources. Developing countries need support in participating in research and invention.
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 National Science Foundation has awarded a $1.3 million grant to support research aimed at reducing fertilizer usage in maize production. The project, led by Ivan Baxter, will focus on identifying genes controlling the elemental composition of maize and their interaction with soil conditions.
Researchers identified the oxytocin receptor gene OXTR as linked to psychological resources, finding that people with specific variants have lower levels of optimism and higher depressive symptoms. The study suggests training oneself in optimism, self-esteem, and mastery can improve coping skills.
Researchers have developed a new resource, mirKO, to investigate the role of microRNAs in human health. The resource provides tools to delete specific microRNA genes in mice or cells, allowing researchers to study their significance and biological function.
Researchers developed a forensic mitochondrial DNA species identification technique to distinguish between sardines and horse mackerel. The method has been applied to over 20 sardine and 20 horse mackerel species, facilitating fisheries imports monitoring and tracking.
African nations participated in a workshop to document the status of forest genetic resources, essential for conserving and sustainably managing forests. The project aims to cover over 3,000 species and gather comprehensive data on genetic diversity before it is lost forever.
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.
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.
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.
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%.
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.
The LifeGene project uses Sweden's comprehensive health registries and genetic data to study the origin of disease, exploring interactions between environment, lifestyle, and heredity. The initiative gathers health and lifestyle information from 500,000 Swedes, aiming to improve diagnostics, treatments, and preventative recommendations.
Dr. Marwan Khaled Tayeh was awarded the 2010 Richard King Trainee Award for his groundbreaking research on targeted comparative genomic hybridization array analysis. The award recognizes his contribution to the identification of deletions and duplications responsible for human diseases.
Dr. Ayman W. El-Hattab, a Medical Genetics fellow, received the 2010-2011 Genzyme/ACMG Foundation Clinical Genetics Fellowship in Biochemical Genetics. The award supports his research on glucose kinetics in patients with MELAS syndrome via stable isotope technology.
Dr. Rimoin was recognized for his research into skeletal dysplasias and heritable disorders of connective tissue, and for helping to organize the field of medical genetics. He is one of the true giants of medical genetics, with a long distinguished career of research and leadership.
The US Department of Agriculture's ARS has sent its third seed shipment to the Svalbard Global Seed Vault in Norway, including a wild Russian strawberry collected from bear territory. The vault aims to store over 500,000 plant accessions for long-term preservation.
The American College of Medical Genetics emphasizes the value of residual newborn screening dried blood spots in improving child health. The statement supports the storage and use of these spots to enhance newborn screening programs nationwide, while maintaining privacy and confidentiality.
Dr. Jonathan Berg received the inaugural Richard King Trainee Award for his publication on microduplications in the 22q11.2 region. The award recognizes the utility of array CGH technology in identifying genomic imbalances and its impact on defining molecular etiology and clinical phenotypes.
Dr. Kathy M. Chun, Director of Cytogenetics and Molecular Genetics at North York General Hospital, is the recipient of the 2009 Signature Genomic Laboratories Travel Award. The award recognizes outstanding young researchers in medical genetics and covers travel costs to the ACMG meeting.
Dr. Sihoun Hahn received the 2009-2010 Luminex/ACMGF Award to promote safe and effective genetic testing and services. The award supports research guidelines and recognizes medical geneticists' role in translating genetic research into medical services.
Dr. Margarita Saenz, a Medical Genetics Fellow, has been awarded the Genzyme/American College of Medical Genetics Foundation Clinical Genetics Fellowship in Biochemical Genetics. This fellowship supports clinicians in biochemical genetics and diagnosis of metabolic diseases.
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.
The American College of Medical Genetics has received a $13.5 million NIH contract to develop a National Newborn Screening Translational Research Network, aiming to enhance the understanding of rare genetic diseases through research and collaborative efforts.
A new study by University of Tennessee professor Francisco Ubeda suggests that the amount of care a father gives to his child may cause a shift in the syndrome's symptoms, reversing them. The research implies that social structure and biparental care can shape disease symptoms over human evolution.
The study found that as a child receives more resources from their father, the expression of imprinted genes is triggered, reversing the symptoms of Prader-Willi Syndrome. This discovery may help understand how social structure influences disease development.
A recent review article provides a detailed overview of the available genomics tools and resources for the Rosaceae scientific community. The article highlights recent developments in Rosaceae genomics, including emerging technologies such as high-throughput sequencing and novel phenotyping platforms.
The American College of Medical Genetics Foundation awarded David H. Ledbetter a $100,000 grant to promote safe and effective genetic testing and services. Ledbetter is a leading expert in molecular karyotyping and shared national databases for genetic data accumulation.
Emory University geneticist Madhuri R. Hegde was honored with the 2008 Signature Genomic Laboratories Travel Award for her scientific merit and selected presentation at the 2008 ACMG Annual Clinical Genetics Meeting. The award recognizes outstanding young researchers in medical genetics and covers travel costs to future meetings.
Peter J. McGuire, MB BCh, has been awarded the 2008-2009 Genzyme/ACMGF Clinical Genetics Fellowship in Biochemical Genetics at Mount Sinai Medical Center, New York. This fellowship supports a trainee's research and training in biochemical genetics.
The American College of Medical Genetics recommends using genetic testing to guide warfarin dosing and reduce the risk of bleeding complications. The review suggests that genetic variants in CYP2C9 or VKORC1 can be used to determine optimal dosing levels, but further research is needed to address clinical utility and balance between ha...
T. Andrew Burrow, MD of Cincinnati Children's Hospital Medical Center received the $75,000 grant to support training of clinicians in biochemical genetics. The award aims to recruit and train physicians in clinical biochemical genetics for metabolic diseases diagnosis and treatment.
The American College of Medical Genetics Foundation awarded Dr. Stuart Schwartz a $100,000 grant to develop a clinical practice model incorporating whole genome SNP array analysis. This project aims to promote safe and effective genetic testing and services.
The American College of Medical Genetics recommends that all newborns be screened for 29 serious disorders, which can lead to death or mental retardation if left untreated. Early detection and treatment through newborn screening can make a significant difference in the long-term outcome of affected children.
The study provides valuable insights into the genetic causes of Parkinson's disease and offers a starting point for further research. Researchers have made the data publicly available, creating a resource that can be used by other scientists to accelerate progress in the field.
A modification to the patent application process could provide comprehensive legal protection for genetic resources and prevent biopiracy. Creating a new system is deemed too challenging, whereas modifying current patents to require disclosure of origin and prior consent is considered feasible.
The report highlights the need for clear rules to regulate deep sea bioprospecting, citing growing concerns about exploitation and potential damage to sensitive ecosystems. Marine-derived drugs have significant economic value, with estimated annual profits of $1 billion from anti-cancer agents alone.
The UN University's new book Regulating Bioprospecting highlights the need for effective policies and institutions to tap into bioprospecting's potential. Experts argue that poor regulatory environments and market imperfections hinder investments in drug research and development from developing countries.
The new center will provide tools for SNP selection, discovery, and analysis, enabling researchers to identify genetic markers associated with diseases. The center aims to make this capability accessible to many biomedical researchers, leading to a better understanding of human genetic variation and its association with disease.
A study published in the Journal of Personality and Social Psychology found that maternal grandmothers are closer to their grandchildren than other grandparents. The researchers discovered that preferential investment stems from genetic uncertainty, with maternal grandmothers being the closest followed by paternal grandfathers.
The UN University report highlights concerns over unregulated bioprospecting in Antarctica, threatening environmental consequences and ownership disputes. Despite the potential for breakthroughs in cancer treatment and industrial compounds, efforts to exploit extremophiles need international regulation.
Rutgers University has been awarded millions by the NIH for its genetic research efforts, expanding its capabilities to study disease genetics globally. The new funding will support researchers in studying common pools of subjects to identify genes predisposing individuals to diseases.
Scientists investigate rice genome for clues on seed dormancy, a key trait to fight preharvest sprouting. They develop populations segregating for dormancy and identify genetic attributes associated with heritability.
The new site organizes institute information into seven major categories, including Research, Health, and Careers. NHGRI's commitment to ELSI and educational resources make it a valuable resource for the public and professionals.