The ASHG Scientific Achievement Award was established in 2001 and is presented annually by the American Society of Human Genetics (ASHG) for outstanding scientific achievements in human genetics that have occurred in the last 10 years. [1]
The award was formerly known as the Curt Stern Award, or the Stern Award, named in honor of Curt Stern (1902–1981), a pioneering human geneticist. [1] It was renamed in 2023 along with several other ASHG awards in a new organizational policy that removed individual's names from awards in favor of descriptive names. [2]
Source: American Society of Human Genetics
Year | Recipient(s) |
---|---|
2001 | Daniel Pinkel and Joe W. Gray |
2002 | James Lupski [3] [4] |
2003 | David Page [5] |
2004 | Neil J. Risch [6] [7] |
2005 | Patrick O. Brown [8] [9] |
2006 | Harry C. Dietz [10] [11] |
2007 | Jeffrey Murray [12] |
2008 | Evan E. Eichler |
2009 | David Haussler and Jim Kent [13] |
2010 | Vivian G. Cheung [14] |
2011 | David Altshuler [15] [16] |
2012 | Jay Shendure [17] [18] |
2013 | John V. Moran [19] |
2014 | Goncalo R. Abecasis & Mark J. Daly |
2015 | Leonid Kruglyak |
2016 | Brendan Lee |
2017 | Nicholas Katsanis |
2018 | Sekar Kathiresan |
2019 | Charles Rotimi & Sarah Tishkoff [20] |
2020 | Fowzan S. Alkuraya |
2021 | Emmanouil Dermitzakis [21] |
2022 | Heidi Rehm [22] |
2023 | Molly Przeworski [23] |
Mosaicism or genetic mosaicism is a condition in which a multicellular organism possesses more than one genetic line as the result of genetic mutation. This means that various genetic lines resulted from a single fertilized egg. Mosaicism is one of several possible causes of chimerism, wherein a single organism is composed of cells with more than one distinct genotype.
Smith–Magenis syndrome (SMS), also known as 17p- syndrome, is a microdeletion syndrome characterized by an abnormality in the short (p) arm of chromosome 17. It has features including intellectual disability, facial abnormalities, difficulty sleeping, and numerous behavioral problems such as self-harm. Smith–Magenis syndrome affects an estimated between 1 in 15,000 to 1 in 25,000 individuals.
Stanley Michael Gartler is an American cell and molecular biologist and human geneticist. He was the first scientist to offer conclusive evidence for the clonality of human cancers. He showed that HeLa cells had contaminated many cell lines thought to be unique. Stanley Gartler is currently Professor Emeritus of Medicine and Genome Sciences at the University of Washington.
Neil Risch is an American human geneticist and professor at the University of California, San Francisco (UCSF). Risch is the Lamond Family Foundation Distinguished Professor in Human Genetics, Founding Director of the Institute for Human Genetics, and Professor of Epidemiology and Biostatistics at UCSF. He specializes in statistical genetics, genetic epidemiology and population genetics.
The American Journal of Human Genetics is a monthly peer-reviewed scientific journal in the field of human genetics. It was established in 1948 by the American Society of Human Genetics and covers all aspects of heredity in humans, including the application of genetics in medicine and public policy, as well as the related areas of molecular and cell biology. According to the Journal Citation Reports, the journal has a 2019 impact factor of 10.502. The journal is published by Cell Press an imprint of Elsevier. Bruce R. Korf became the editor-in-chief in the winter of 2017–2018.
David Haussler is an American bioinformatician known for his work leading the team that assembled the first human genome sequence in the race to complete the Human Genome Project and subsequently for comparative genome analysis that deepens understanding the molecular function and evolution of the genome.
Low copy repeats (LCRs), also known as segmental duplications (SDs), or duplicons, are DNA sequences present in multiple locations within a genome that share high levels of sequence identity.
The American Society of Human Genetics (ASHG), founded in 1948, is a professional membership organization for specialists in human genetics. As of 2009, the organization had approximately 8,000 members. The society's members include researchers, academicians, clinicians, laboratory practice professionals, genetic counselors, nurses, and others who have a special interest in the field of human genetics.
Potocki–Lupski syndrome (PTLS), also known as dup(17)p11.2p11.2 syndrome, trisomy 17p11.2 or duplication 17p11.2 syndrome, is a contiguous gene syndrome involving the microduplication of band 11.2 on the short arm of human chromosome 17 (17p11.2). The duplication was first described as a case study in 1996. In 2000, the first study of the disease was released, and in 2007, enough patients had been gathered to complete a comprehensive study and give it a detailed clinical description. PTLS is named for two researchers involved in the latter phases, Drs. Lorraine Potocki and James R. Lupski of Baylor College of Medicine.
Aravinda Chakravarti is a human geneticist and expert in computational biology, and Director of the Center For Human Genetics & Genomics at New York University. He was the 2008 President of the American Society of Human Genetics. Chakravarti became a co-Editor-in-Chief of the journal Genome Research in 1995, and of the Annual Review of Genomics and Human Genetics' in 2005.
David Matthew Altshuler is a clinical endocrinologist and human geneticist. He is Executive Vice President, Global Research and Chief Scientific Officer at Vertex Pharmaceuticals. Prior to joining Vertex in 2014, he was at the Broad Institute of Harvard and MIT, and was a Professor of Genetics and Medicine at Harvard Medical School, and in the Department of Biology at Massachusetts Institute of Technology. He was also a faculty member in the Department of Molecular Biology, Center for Human Genetic Research, and the Diabetes Unit, all at Massachusetts General Hospital. He was one of four Founding Core Members of the Broad Institute, and served as the Institute's Deputy Director, Chief Academic Officer, and Director of the Program in Medical and Population Genetics.
Jay Shendure is an American scientist and human geneticist at the University of Washington. He is a professor in the Department of Genome Sciences at the University of Washington School of Medicine and an Affiliate Investigator in the Human Biology Division at the Fred Hutchinson Cancer Research Center. Shendure's research is focused on developing and applying new technologies in genomics. In 2005, his doctoral research with George M. Church resulted one of the first successful proof-of-concepts of next-generation DNA sequencing. Shendure's research group at the University of Washington pioneered exome sequencing and its application to Mendelian disorders, a strategy that has been applied to identify hundreds of disease-causing genes. Other notable accomplishments of Shendure's laboratory include the first whole genome sequencing of a human fetus using samples obtained non-invasively from the parents, and the sequencing of the HeLa genome in agreement with Henrietta Lacks' family.
Dorothy Pamela (DeMontmerency) Warburton was a Canadian geneticist whose research focused on fetal chromosomal abnormalities and reasons for miscarriage. She died at the age of 80 on 26 April 2016 at her home in Englewood, New Jersey.
Mark Joseph Daly is Director of the Finnish Institute for Molecular Medicine (FIMM) at the University of Helsinki, a Professor of Genetics at Harvard Medical School, Chief of the Analytic and Translational Genetic Unit at Massachusetts General Hospital, and a member of the Broad Institute of MIT and Harvard. In the early days of the Human Genome Project, Daly helped develop the genetic model by which linkage disequilibrium could be used to map the haplotype structure of the human genome. In addition, he developed statistical methods to find associations between genes and disorders such as Crohn's disease, inflammatory bowel disease, autism and schizophrenia.
Sarah Anne Tishkoff is an American geneticist and the David and Lyn Silfen Professor in the Department of Genetics and Biology at the University of Pennsylvania. She also serves as a director for the American Society of Human Genetics and is an associate editor at PLOS Genetics, G3, and Genome Research. She is also a member of the scientific advisory board at the David and Lucile Packard Foundation.
Sharon Ruth Browning is a statistical geneticist at the University of Washington, and a research professor with its Department of Biostatistics. Her research has various implications for the field of biogenetics.
Charles Nohuoma Rotimi is the Scientific Director of the National Human Genome Research Institute (NHGRI). He joined the National Institutes of Health (NIH) in 2008 as the inaugural Director of the Trans-NIH Center for Research in Genomics and Global Health and was also the chief of the NHGRI's Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch. He works to ensure that population genetics include genomes from African populations and founded the African Society of Human Genetics in 2003 and was elected its first president. Rotimi was instrumental in the launch of the Human Heredity and Health in Africa (H3Africa) with the NIH and the Wellcome Trust. He was elected to the National Academy of Medicine in 2018.
GeneMatcher is an online service and database that aims to match clinicians studying patients with a rare disease presentation based on genes of interest. When two or more clinicians submit the same gene to the database, the service matches them together to allow them to compare cases. It also allows matching genes from animal models to human cases. The service aims to establish novel relationships between genes and genetic diseases of unknown cause.
Neil Hanchard is a Jamaican physician and scientist who is clinical investigator in the National Human Genome Research Institute (NHGRI), where he leads the Childhood Complex Disease Genomics section. Prior to joining NHGRI, he was an associate professor of molecular and human genetics at the Baylor College of Medicine. He is a fellow of the American College of Medical Genetics and Genomics,. Hanchard's research focuses on the genetics of childhood disease, with an emphasis on diseases impacting global health.
Wylie Burke is a Professor Emerita and former Chair of the Department of Bioethics and Humanities at the University of Washington and a founding co-director of the Northwest-Alaska Pharmacogenomics Research Network, which partners with underserved populations in the Pacific Northwest and Alaska.