Silke Schmidt – Genes to Genomes https://genestogenomes.org A blog from the Genetics Society of America Thu, 01 Aug 2019 15:44:10 +0000 en-US hourly 1 https://wordpress.org/?v=6.6.2 https://genestogenomes.org/wp-content/uploads/2023/06/cropped-G2G_favicon-32x32.png Silke Schmidt – Genes to Genomes https://genestogenomes.org 32 32 Congratulations to Michael Snyder for receiving the 2019 George W. Beadle Award! https://genestogenomes.org/snyder-beadle/ Tue, 02 Apr 2019 12:00:42 +0000 https://genestogenomes.org/?p=43495 Michael Snyder, PhD, of Stanford University is the recipient of the 2019 Genetics Society of America (GSA) George W. Beadle Award for developing and disseminating widely-used technology for the simultaneous analysis of thousands of genes, RNA molecules, and proteins. Beginning with studies of baker’s yeast and later expanding to humans, Snyder’s sharing of tools and…]]>

Michael Snyder, PhD, of Stanford University is the recipient of the 2019 Genetics Society of America (GSA) George W. Beadle Award for developing and disseminating widely-used technology for the simultaneous analysis of thousands of genes, RNA molecules, and proteins. Beginning with studies of baker’s yeast and later expanding to humans, Snyder’s sharing of tools and resources set a high standard of service to the community and helped lay the foundation of systems biology. He also pioneered the application of omics technologies and big data to personalized medicine.

The Beadle Award recognizes significant, sustained service to the genetics community that goes beyond an exemplary individual research career.

”Mike’s enormous contributions include ingenious new methods and technological advances that are now central to the field,” says John Carlson, a professor at Yale University and one of the scientists who nominated Snyder for the award. “He has shown great leadership as an innovator, a disseminator of new technology and knowledge, and a community builder.”

Snyder’s interest in the application of chemistry to biological systems emerged during his undergraduate training at the University of Rochester and continued at the California Institute of Technology under his PhD advisor Norman Davidson. Following a postdoctoral fellowship with Ronald Davis at Stanford University, Snyder moved to Yale University in 1986 and was the Chair of its Department of Molecular, Cellular, and Developmental Biology from 1998 to 2004. In 2009, he was appointed Chair of the Department of Genetics at Stanford University and became the Stanford B. Ascherman Professor of Genetics in 2011.

Early in his career, Snyder used yeast as a model organism to launch a new system-level approach to analyzing the functions of the thousands of genes that make up the yeast genome. He achieved this by expanding a method known as transposon tagging.

Transposons are repetitive DNA sequences that can jump from one genomic location to another. Other researchers had used this unique ability to identify and map unknown genes, typically one at a time, by testing which DNA sequences were disrupted by the transposon’s jump.

Snyder’s group deployed this tool on a system-wide scale by creating libraries of transposon-tagged yeast genes. To multiply the impact of these libraries, Snyder made them freely available to the genetics community before publication, along with the reagent lists and analysis tools needed for their use. These resources allowed other researchers to track, for example, which gene was expressed at which point during the yeast life cycle and wherein the cell the protein coded by that gene was active.

The 1994 publication of Snyder’s first large-scale functional analysis of the yeast genome spawned the fields of systems biology and functional genomics. With Patrick Brown, Snyder developed the ChIP-chip technology for identifying all DNA sites to which transcription factors can bind. These sites help initiate a gene’s transcription and regulate gene expression. ChIP-chip later evolved into the widely-used ChIP-seq technology.

In 2000, when researchers were completing the first sequence of the human genome, Snyder turned his attention to human cells and their large and continuously changing set of RNA molecules. They include not only messenger RNA, the familiar coding molecule for proteins, but also RNA types that researchers knew much less about. In 2004, Snyder’s group was the first to discover widespread non-coding RNAs in human cells, using the tiling array approach they had developed. These functional RNAs are transcribed from DNA but not translated into proteins.

Paired-end sequencing, another technology devised by Snyder’s group, revealed widespread structural variation in the human genome. His team also showed that the bulk of these DNA rearrangements of varying length were not due to homologous recombination, as many researchers had expected.

Snyder’s RNA analyses and methods were an integral part of the ENCODE (ENCyclopedia of DNA Elements) project, a massive multi-center consortium charged with defining all functional elements in the human genome. Snyder’s group contributed more data sets to the ENCODE project than any other laboratory. His team co-invented RNA-seq technology for mapping coding and non-coding RNAs to DNA sequences. It is now a ubiquitous tool in genome and transcriptome analysis. Snyder’s laboratory also built the first proteome array for the large-scale characterization of protein function.

Snyder’s move to Stanford in 2009 set the stage for studying human health at an entirely new level by combining insights from genomics, transcriptomics, proteomics, and metabolomics. The latter is the large-scale study of small molecules (metabolites) that result from chemical reactions in tissues and fluids.

Using himself as the initial test subject, Snyder pushed the boundaries of the field by applying big-data science to personalized medicine. In 2012, his group published a longitudinal proof-of-principle study in which integrative omics analyses were performed on Snyder’s samples to track his health status over time. After the researchers discovered his high risk for type 2 diabetes through genome sequencing, they began to monitor his blood glucose levels and observed a spike in glucose levels after a viral infection. This resulted in a diabetes diagnosis about one year into the study. With lifestyle changes, Snyder was able to reduce his glucose levels back to normal for several years.

The 2012 study showed that integrative personal omics profiles (iPOPs) can predict diseases before the onset of clinical symptoms. The term “precision health” describes the early detection of subtle health changes in order to prevent diseases or to initiate treatment before they advance. Snyder’s group recently illustrated the power of precision health in a much larger cohort of subjects in whom the omics profiles identified many clinically actionable health outcomes, such as early lymphoma, pre-cancerous lesions, and early stages of heart disease. Snyder has continued to make data and resources from these pioneering studies freely available.

Snyder’s team has also incorporated wearable devices into the omics profiles. These devices measure personal health information, such as heart rate, skin temperature, and sleep duration, as well as airborne biological and chemical exposures (“exposome”). Snyder believes that physicians and patients will make health decisions in the future not based on population averages, but on each person’s unique and longitudinal data from omics profiles and wearable devices.

At Yale and Stanford University, Snyder has opened the doors of his lab to many high school and undergraduate students. He has mentored more than 70 graduate students and about 180 postdoctoral trainees. He is an elected fellow of the American Association for the Advancement of Science and the American Academy of Arts and Sciences.

“Mike has an outstanding record of service to the genetics community,” says Joseph Ecker, a professor at the Salk Institute for Biological Studies and one of the scientists who nominated Snyder for the Beadle Award. “His achievements have had a major impact on our understanding of genetic processes from yeast to humans.”

Snyder joined the GSA as a graduate student and served on its Board of Directors from 2006 to 2009. He has attended almost all of its Yeast Genetics Meetings since 1983 and organized two of them. The George W. Beadle Award will be presented at The Allied Genetics Conference, which will be held April 22–26, 2020, in the Metro Washington, DC region.

The award was named in honor of George W. Beadle (1903-1989), who shared the 1958 Nobel Prize in Physiology or Medicine with Edward Tatum for discovering that genes act by regulating specific chemical reactions. Beadle served as GSA president (1946) and made numerous contributions to the genetics community during his long and distinguished career.

]]>
Genetics Society of America Awards 2019 Thomas Hunt Morgan Medal to Daniel Hartl https://genestogenomes.org/genetics-society-of-america-awards-2019-thomas-hunt-morgan-medal-to-daniel-hartl/ https://genestogenomes.org/genetics-society-of-america-awards-2019-thomas-hunt-morgan-medal-to-daniel-hartl/#comments Wed, 20 Mar 2019 20:29:20 +0000 https://genestogenomes.org/?p=40498 Daniel Hartl, PhD, of Harvard University is the recipient of the 2019 Genetics Society of America (GSA) Thomas Hunt Morgan Medal for his influential contributions to experimental and theoretical genetics research. His extraordinarily broad research program combines mathematical models with cutting-edge experimental techniques to tackle important questions in evolutionary biology and genomics. The Morgan Medal…]]>

Daniel hartl

Daniel Hartl, PhD, of Harvard University is the recipient of the 2019 Genetics Society of America (GSA) Thomas Hunt Morgan Medal for his influential contributions to experimental and theoretical genetics research. His extraordinarily broad research program combines mathematical models with cutting-edge experimental techniques to tackle important questions in evolutionary biology and genomics.

The Morgan Medal recognizes lifetime achievement in genetics research. Like Thomas Hunt Morgan, Hartl has conducted many of his studies on the fruit fly Drosophila melanogaster.

“By every objective measure, Dan has shaped the fields of population genetics and evolution,” says Rebekah Rogers, a professor of bioinformatics and genomics at the University of North Carolina at Charlotte and one of the scientists who nominated Hartl for the Morgan Medal. “His influence in the field is wide-reaching, and his record of training other researchers is unparalleled.”

Hartl grew up in rural northern Wisconsin, with little exposure to genetics in high school and no firm plans to attend college. Encouraged by high school teacher Robert Meyer to apply for a scholarship, he attended the University of Wisconsin at Marathon County Center in Wausau for two years before transferring to the state’s flagship campus, the University of Wisconsin, Madison, which offered one of the world’s best genetics programs. A few classes taught by renowned geneticist James Crow were all it took for him to find his true calling in population genetics.

After earning his PhD in genetics in 1968, Hartl moved to the University of California, Berkeley, for his postdoctoral studies with Spencer Brown. Starting in 1969, his academic career included faculty positions at the University of Minnesota, Purdue University, Washington University, and Harvard University, the latter being his professional home since 1993.

Hartl’s interest in experimental evolution—a fast-forward model of natural evolution— began at the University of Minnesota and continued at Purdue. By culturing different types of Escherichia coli bacteria together under tightly controlled chemical conditions, Hartl and postdoctoral fellow Daniel Dykhuizenset up a growth competition between strains that differed only in a single amino acid in one enzyme. The research question was whether these subtle protein variants, which arise in nature from random DNA mutations, resulted in fitness differences or were selectively neutral.

Under constant conditions, any growth differences between the strains were undetectable. But by changing the composition of the nutrient mix, differences between the strains became apparent. In other words, their fitness depended on the environmental context. These results intrigued Hartl so much that he was determined to understand their theoretical basis. This initiated a highly productive collaboration with the gifted mathematician Stanley Sawyer, who joined Purdue University a few years after Hartl.

Sawyer and Hartl showed that a mathematical process called a Poisson random field describes how multiple randomly occurring DNA mutations are passed through generations in finite populations. The observed frequencies of these mutations vary from one generation to the next. However, the mathematical model showed that the expected frequencies at any time are precisely determined. According to the model, these expected frequencies differ for mutations that change a protein’s function and those that don’t.

This theory explains the accumulation of sequence differences between populations over time. When natural selection acts upon these genetic differences, the two populations may eventually become two distinct species. For the constant environment of Hartl’s original E. coli experiments, the theory showed that the subtle DNA variants were slightly deleterious. However, the effect was small enough to appear selectively neutral.

An important implication of this work is that most randomly arising DNA variants in a population are quickly lost, but the few favorable ones become fixed over time as differences between species. The theorem, published in GENETICS in 1992, is frequently used in comparative genomics today to analyze species differences in whole-genome sequences.

The work with Sawyer was driven by a specific question, but Hartl also came to appreciate the role of serendipity in science. When he moved his lab from Purdue to Washington University in August 1981, the moving van held some 6,000 half-pint milk bottles of Drosophila cultures, along with a few trainees. Somewhere between West Lafayette and St. Louis, a random mutation resulted in peach-colored fruit fly eyes speckled with red. They brought to mind the mosaic corn kernels that helped geneticist Barbara McClintock win a Nobel Prize in 1983, but zooming in on the specific explanation took a few more years.

As in the corn kernels, the cause was a transposable element capable of jumping from one genomic location to another. James Jacobson, the graduate student who characterized this repetitive DNA element, later named it the mariner transposon, after his newborn daughter Marin. The unusual eyes continued to fascinate many members of Hartl’s lab, including Emilie, the 8-year-old daughter of postdoctoral fellow Pierre Capy, whose Crayola drawing of the mutant eyes Hartl included in a 2001 review paper. The mariner transposon is not confined to flies; it has shaped the genomic history of many species, including humans. Prior to the advent of CRISPR gene editing, it was frequently used as a tool to transfer genetic material from one cell to another in studies of multiple organisms.

In the mid-1990s, Hartl’s interest expanded beyond DNA sequences to gene expression data. Using newly developed microarray technology, his group found between-species expression differences in Drosophila flies to be much larger for genes that are differentially expressed in males and females. This suggested that sex-dependent selection may drive the evolution of gene expression differences between species. The researchers also discovered that the Y chromosome affects the expression of hundreds of genes across the genome for as-yet-unknown reasons.

Today, Hartl is especially proud of his malaria research, which addresses a major global health problem. Although 219 million malaria cases were identified worldwide in 2017, transmission rates in parts of Africa have been reduced so much that they are difficult to estimate with traditional sampling methods. This complicates the evaluation of new interventions. Hartl and colleagues showed that malaria control efforts have changed the genetic properties of parasite populations. This result means that researchers can test new interventions by applying statistical models to parasite samples.

The malaria research is related to Hartl’s other ongoing projects on antibiotic resistance. For example, he and colleagues study whether amino acid changes in bacterial and viral proteins modify drug resistance, and, conversely, how changes in a drug’s chemical structure affect the proteins that confer resistance to it.

“Dan has employed equations, microbes, fruit flies, and the malaria parasite to discover how genes are organized into genomes, vary within populations, and change over evolutionary time,” says Colin Meiklejohn, a professor of biological sciences at the University of Nebraska and one of the scientists who nominated Hartl for the Morgan Medal. “By combining theory and experiments, he has made seminal contributions to transmission, population, evolutionary, and medical genetics.”

Hartl is the Higgins Professor of Biology in the Department of Organismic and Evolutionary Biology at Harvard University. He is an elected fellow of the National Academy of Sciences and the American Academy of Arts and Sciences. He credits much of his success to the 37 graduate students and 38 postdoctoral fellows he has mentored since 1969.

Hartl joined the GSA a graduate student. He was on the GSA Board of Directors from 1984 to 1986, served as an Associate Editor for the GSA journal GENETICSfrom 1977 to 1985, and as the GSA President in 1989. The Thomas Hunt Morgan Medal will be presented at The Allied Genetics Conference, which will be held April 22–26, 2020, in the Metro Washington, DC, region.

The award was named in honor of Thomas Hunt Morgan (1866-1945), the 1933 Nobel Laureate who provided the first experimental evidence that chromosomes are the carriers of genetic information. He also developed the first recombinant genetic maps, a tool that would later help identify numerous genes for monogenic and complex human diseases.

]]>
https://genestogenomes.org/genetics-society-of-america-awards-2019-thomas-hunt-morgan-medal-to-daniel-hartl/feed/ 1
GSA Grants 2019 Elizabeth W. Jones Award for Excellence in Education to Bruce Weir https://genestogenomes.org/gsa-grants-2019-elizabeth-w-jones-award-for-excellence-in-education-to-bruce-weir/ https://genestogenomes.org/gsa-grants-2019-elizabeth-w-jones-award-for-excellence-in-education-to-bruce-weir/#comments Thu, 07 Mar 2019 18:45:54 +0000 https://genestogenomes.org/?p=36870 Bruce Weir, PhD, of the University of Washington in Seattle is the recipient of the 2019 Genetics Society of America (GSA) Elizabeth W. Jones Award for Excellence in Education, in recognition of his work training thousands of researchers in the rigorous use of statistical analysis methods for genetic and genomic data. The Jones Award recognizes…]]>

Bruce Weir

Bruce Weir, PhD, of the University of Washington in Seattle is the recipient of the 2019 Genetics Society of America (GSA) Elizabeth W. Jones Award for Excellence in Education, in recognition of his work training thousands of researchers in the rigorous use of statistical analysis methods for genetic and genomic data.

The Jones Award recognizes individuals or groups that have had a significant, sustained impact on genetics education at any level.

“Bruce has made outstanding contributions to the training of basic and applied population and quantitative geneticists from across the globe for more than 40 years,” says Trudy Mackay, a professor of biological sciences at North Carolina State University (now at Clemson University) and one of the scientists who nominated Weir for the award.

His contributions fall into three categories: the acclaimed Summer Institute in Statistical Genetics (SISG), which has been held continuously for 23 years and has trained more than 10,000 researchers worldwide; the popular graduate-level textbook Genetic Data Analysis; and the training of a growing number of forensic geneticists during the rise of DNA evidence in courts around the world.

Weir grew up and attended college in New Zealand, majoring in mathematics. He credits his discovery of statistical genetics to a summer internship with researcher Brian Hayman, who recommended the PhD program at North Carolina State University for pursuing Weir’s newly found interest. In Raleigh, he trained with C. Clark Cockerham and then completed his postdoctoral studies with plant geneticist Robert W. Allard at the University of California, Davis.

From Davis, Weir returned to New Zealand to teach at Massey University before Cockerham lured him back to North Carolina State University in 1976. Weir spent the next three decades of his career in Raleigh. He became the William Neal Reynolds Distinguished Professor of Statistics and Genetics in 1992.

Inspired by a 1995 summer course for animal geneticists at the University of Guelph in Canada, Weir decided to hold the first SISG in Raleigh in 1996. With limited advertising and funding, the inaugural Institute drew about 100 attendants. Weir quickly realized that the SISG filled an important niche. While technological advances were rapidly increasing the amount of genetic and genomic data requiring statistical analysis, graduate programs in the biological sciences rarely offered statistics courses that were tailored to the problems students were addressing in their dissertation projects.

In 1997, the SISG began receiving funding from the National Science Foundation, and in 1999 the National Institutes of Health added its support, with most of the funds over the past two decades supporting the attendance of US graduate students. The SISG moved from Raleigh to Seattle when Weir was appointed Chair of the Department of Biostatistics at the University of Washington in 2006. To reach a global audience, the Institute has also been held in 15 (and counting) countries outside the United States.

Weir’s interest in authoring a textbook started even earlier in his career. The 1990 edition of Genetic Data Analysis helped plant the seed for the first SISG in 1996, and the two efforts have been synergistic ever since. By inviting active researchers with a record of excellent teaching as SISG guest instructors, Weir stays abreast of the larger field, which helps update the book’s content over time. The 3rdedition, co-authored with Jérôme Goudet at the University of Lausanne, Switzerland, is expected to be published in 2020. It will continue to cover the theoretical underpinnings of population genetics. The book’s statistical code, written in the R programming language, will add to its appeal for applied researchers with a wide range of data management and analysis needs.

A new area of application for Weir’s research interests emerged in 1989: forensic genetics. After the FBI introduced DNA genotyping in courts, it soon sought Weir’s expertise in matched-pair probability calculations for the defendant’s DNA and a crime scene sample. Weir continues to work with FBI researchers today and serves on national committees to help develop legal guidelines for interpreting DNA evidence in court. He says this work is both rewarding and challenging, as the worlds of science (seeking the truth) and law (seeking justice) don’t always coincide. He co-authored the textbook Interpreting DNA Evidence, published in 1998, with forensic scientist Ian Evett.

Weir’s applied projects extend beyond forensic investigations of human samples. In 2018, he co-authored a high-impact paper about ivory poaching, the fourth-largest transnational crime that frequently funds drug trafficking and other criminal activities.

The study was based on an elephant DNA database that UW biology professor Samuel Wasser assembled from ivory and scat samples collected throughout Africa. Using 16 markers with geography-specific allele frequencies, the researchers were able to trace ivory shipments seized at different ports to the same origin. This combats a strategy commonly used by large ivory smuggling cartels: separating the two tusks of one elephant to make it more difficult to identify their shared origin.

Together, the SISG, the textbook, and the training of the forensic community are a powerful testament to Weir’s commitment to education. “Any of these three contributions would clearly make Bruce a very strong candidate,” says Bruce Walsh, a professor of ecology and evolutionary biology, and of public health, at the University of Arizona and one of the scientists who nominated Weir for the award. “The combination of all three is unbeatable.”

Based in the Department of Biostatistics at the University of Washington, which he chaired from 2006 to 2014, Weir also serves as Director of the Genetics Analysis Center, the Institute of Public Health Genetics, and the Graduate Program in Public Health Genetics. He is an elected fellow of the American Association for the Advancement of Science, the American Statistical Association, and the American Academy of Forensic Sciences. In addition to his classroom teaching, Weir has trained and mentored 33 doctoral students and 19 postdoctoral fellows. Many of them work as faculty members and scientists at leading universities, government agencies, and private companies around the world.

Weir joined the GSA a graduate student. He served as an Associate Editor for the GSA journal GENETICS from 1977 to 1997 and as the GSA Treasurer from 2002 to 2005. The Elizabeth W. Jones Award will be presented at The Allied Genetics Conference, which will be held April 22–26, 2020, in the Metro Washington, DC region.

The award was named posthumously for Elizabeth W. Jones (1939-2008), who was the recipient of the first GSA Excellence in Education Award in 2007. She was a renowned geneticist and educator who served as GSA president (1987) and as Editor in Chief of GENETICS for nearly 12 years.

]]>
https://genestogenomes.org/gsa-grants-2019-elizabeth-w-jones-award-for-excellence-in-education-to-bruce-weir/feed/ 1