- Complex disease genetics
- Genomic analysis of cancer
- Worldwide population genetics
- Epigenetics and its role in human diseases and aging
Information for the science community can be found by going to the personal webpage Absher Lab.
Information for the science community can be found by going to the personal webpage Absher Lab.
professor in functional genomics in the Department of Medical Biochemistry and Microbiology at Uppsala University, Sweden, and winner of the 2014 Wolf Prize in Agriculture.
Leif was among the first scientists worldwide to apply molecular genetics to domestic animals. At the time, in the late 1980s, this involved identifying one gene at a time: an enormously laborious task. It was hard to get funding as well. The research councils considered that genetic research was most suitably carried out on mice, yeast and banana flies, rather than horses and pigs. But he stuck to his idea, and the discoveries and publications soon ensued.
professor, University of Washington and Associate Director of the Northwest Institute of Genetic Medicine, Professor of Genome Sciences, Adjunct Professor of Bioengineering, NWIGM: Genomic Technologies
Debbie Nickerson, Associate Director of the NWIGM, is focused on the application of genomic technologies. Dr. Nickerson is a Professor of Genome Sciences at the University of Washington (UW), who, for two decades, has pioneered the development of new methods and tools that have been widely adopted for the identification and genotyping of human sequence variation, including single nucleotide variations (SNVs), insertion-deletions (indels) and copy number variations (CNVs). Her recent work has focused on developing and applying robust methods for next-generation sequencing technology.
Director of the Beckman Institute, and Professor of Molecular Biology, California Institute of TechnologyDr. Barbara Wold is the Bren professor of molecular biology and director of the Beckman Institute at Caltech. She began working on genome structure and gene regulation during embryo development for her Ph.D. thesis at Caltech, and developed ways to assay cis-regulatory element function during postdoctoral work at Columbia. She joined the biology faculty at Caltech in 1981 where she and her colleagues have focused on learning the architecture and logic of gene networks that drive cell state transitions. They study skeletal muscle development, degeneration and regeneration as a favored model system. Recent work emphasizes new ways to quantitatively map the inputs and outputs of gene networks in a genome-wide manner using “next generation” ultra-high throughput DNA sequencing, and applying these methods to muscle and brain networks.http://biofrontiers.colorado.edu/about/directory/BarbaraWold
Howard Hughes Medical Investigator, and Director of the Division of Medical Genetics at the University of IowaInvestigator, Howard Hughes Medical InstituteProfessor, Department of PediatricsDirector, Division of Medical GeneticsDirector, Interdepartmental Research Program in Human Molecular Genetics, University of IowaDr. Sheffield received his bachelor of science degree in zoology from Brigham Young University and his M.D. and Ph.D. degrees from the University of Chicago. Dr. Sheffield completed a pediatric residency, a medical genetics fellowship and postdoctoral work at the University of California, San Francisco.Dr. Sheffield is interested in identifying genes and disease mechanisms involved in single-gene and complex human genetic disorders, including hereditary blindness, deafness, autism, obesity, and cardiovascular disorders. The identification of genes, sequence variations, and mechanisms involved in complex human disorders holds great promise for improving health care, but at the same time presents a difficult challenge to the scientific community.To better understand the genetics of complex human disorders, Dr. Sheffield’s laboratory has studied isolated human populations and Mendelian (single-gene) disorders that share a phenotypic component with common complex disorders. He has used isolated human populations to map more than 35 disorders and has used positional cloning methods to identify 15 disease-causing genes. This work has provided insight into the types of genes, mutational events and gene product interactions that are likely to contribute to common complex disorders. Recent progress in the laboratory has resulted in the identification of genes involved in a heterogeneous autosomal recessive disorder known as Bardet-Biedl syndrome (BBS). Most recently Dr. Sheffield’s lab identified defects in a single gene that underlies a hereditary form of age-related macular degeneration, the leading cause of irreversible vision loss in the developed world.http://www.hhmi.org/scientists/val-c-sheffield
Isidore S. Edelman Professor and Chairman of the department of biochemistry and molecular biophysics, Columbia University Medical Center, and co-founder, New York Genome CenterTom Maniatis, Ph.D. Tom Maniatis is the Isidore S. Edelman Professor and chairman of the department of biochemistry and molecular biophysics at the Columbia University Medical Center. He received his B.S. and M.S. degrees from the University of Colorado at Boulder in chemistry and biology, and his Ph.D. in molecular biology from Vanderbilt University. After postdoctoral studies at Harvard University and the MRC Laboratory of Molecular Biology in Cambridge, England, Dr. Maniatis held faculty positions at Harvard University, the Cold Spring Harbor Laboratory and the California Institute of Technology.Dr. Maniatis is known for pioneering the development of gene cloning technology and its application to basic research and biotechnology. His research has impacted a broad spectrum of biomedical fields, from basic mechanisms of gene regulation, to human genetic and inflammatory diseases. Dr. Maniatis’ laboratory is currently focused on molecular neuroscience, with interests in the role single cell diversity in the brain, and disease mechanisms in ALS.
Dr. Maniatis co-founded three biotechnology companies in the past 30 years, including Genetics Institute, which pioneered the development of FDA-approved recombinant therapeutic proteins, ProScript, where the small molecule cancer drug Velcade was invented, and Acceleron, which develops recombinant proteins for the treatment of musculoskeletal diseases. He is currently a member of the board of directors of Acceleron Pharma and Constellation Pharma, and is a science partner of The Column Group, a biotechnology venture firm.
Dr. Maniatis is a member of the Jackson Laboratory board of trustees, and has served on the board of trustees of the Cold Spring Harbor Laboratory. He currently serves on the Rockefeller University committee on scientific affairs and is a former member of the board of scientific consultants, Memorial Sloan-Kettering Cancer Center. He is a co-founder of the New York Genome Center and sits on its executive committee. Dr. Maniatis is a member of the U.S. National Academy of Sciences.
President and Scientific Director, Ontario Institute for Cancer Research and Director, P3G (Public Population Project in Genomics)President and Scientific Director, Ontario Institute for Cancer Research Scientific Director, P3GDr. Thomas J. Hudson is president and scientific director of the Ontario Institute for Cancer Research. He is implementing the institute’s strategic plan, working with cancer research institutions across Ontario to leverage existing strengths. The plan focuses on prevention, early diagnosis, cancer targets and new therapeutics. Its innovation platforms include imaging and interventions, bio-repositories and pathology, genomics and high-throughput screening, and informatics and biocomputing. Dr. Hudson is recruiting more than 50 internationally recognized principal investigators.Dr. Hudson was the founder and Director of the McGill University and Genome Quebec Innovation Centre and Assistant-Director of the Whitehead/MIT Center for Genome Research. Dr. Hudson is internationally renowned for his work in genomics. At the Whitehead Institute, Dr. Hudson led the effort to generate dense physical and gene maps of the human and mouse genomes. He is a leader in the development and applications of robotic systems and DNA-chip based methodologies for genome research. In June 1996, he founded the Montreal Genome Centre based at the McGill University Health Centre Research Institute. In 2003, this group expanded to become the McGill University and Genome Quebec Innovation Centre. Dr. Hudson and his team were founding members of the International Haplotype Map Consortium. Dr. Hudson’s interests in human genetic diseases focus on the dissection of complex genetic diseases. Disease projects in Dr. Hudson’s laboratory included the search for genes predisposing to lupus, inflammatory bowel disease, coronary artery disease, asthma, diabetes and colon cancer. The laboratory also used the DNA-chip technology to characterize breast and ovarian cancer.
In 2007, Dr. Hudson was appointed to the rank of professor (status-only) in the Department of Molecular Genetics at the University of Toronto. He taught in the departments of Human Genetics and Medicine at McGill University and practiced medicine at the McGill University Health Centre – Montreal General Hospital.
Dr. Hudson is a fellow of the Royal Society of Canada. He was one of the co-founding members of P3G and is currently serving as its scientific director. He is editor-in-chief of the journal Human Genetics.
The recipient of numerous awards, Dr. Hudson has received the 2005 Achievement of the Year in Healthcare from Maclean’s magazine, the 2005 Award for Research in Immunology by the Canadian Society for Allergy and Clinical Immunology, the André-Dupont 2002 Young Investigator Award given by Quebec’s Clinical Research Club, an Investigator Award from the Canadian Institutes of Health Research, a Burroughs-Wellcome Clinician-Scientist Award, The 2002 Prix de la Santé from the Armand-Frappier Foundation, the 2001 Young Scientist Award by the Genetics Society of Canada, the 2000 Scientist of the Year by Radio-Canada, and the 1999 Canada’s Top 40 Under 40.
Managing Director and Partner, TPG Alternative and Renewable Technologies/TPG BiotechnologyPrior to joining TPG Biotech in 2004, Dr. Duyk served on the board of directors and was president of research and development at Exelixis where he led a 550+ person group focused on the discovery and development of small molecule therapeutics. Prior to Exelixis, he was one of the founding scientific staff at Millennium Pharmaceuticals. As vice president of genomics at Millennium, Duyk was responsible for building and leading the informatics, automation, DNA sequencing and genotyping groups as well as the mouse and human genetics group. Prior to his tenure at Millennium, Dr. Duyk was an assistant professor at Harvard Medical School (HMS) in the Department of Genetics and assistant investigator of the Howard Hughes Medical Institute (HHMI). While at HMS, Dr. Duyk was a co-principal investigator in the National Institutes of Health (NIH) funded Cooperative Human Linkage Center. Dr. Duyk has been and continues to be a member of numerous NIH panels and oversight committees focused on the planning and execution of the Human Genome Project.Dr. Duyk serves on the board of directors of Replidyne, Macrogenics, Aerie, FoldRx, Amyris, Galleon, Moksha8, ShangPharma, Agria, Renewco and JCR.He is a council member of the National Human Genome Research Institute at the National Institutes of Health. He also serves on the scientific advisory boards of the NHGRI DNA Sequencing Advisory Panel, chair of the KOMP (Global Mouse TKO project), ESC (Expressed Sequenced Consortium), co-chair advisory panel Cancer Genome Anatomy Project, Program in Genomics Applications (NHBLI); the Bioethics Advisory Group at Case Western Reserve University; the Spinal Muscular Atrophy Foundation; WIL Laboratories; VLST; and FoldRx.
Dr. Duyk is a former member of the board of directors of Avidia, recently sold to Amgen.
Dr. Duyk holds a Ph.D. and M.D. from Case Western Reserve University and completed his medical and fellowship training at University of California, San Francisco. While at UCSF, Dr. Duyk was a fellow of the Lucille P. Markey Foundation and was also awarded a postdoctoral fellowship from the Howard Hughes Medical Institute.
Dr. Guy Caldwell, Ph.D. and Dr. Kim Caldwell, Ph.D., Molecular Biologists, Assistant Professors, Department of Biological Sciences
“I never set out to be a professor and researcher; I sort of stumbled into that job. However, I always wanted to know more about nature because I loved animals, rocks, planets, stars, fish, etc. So, in school I took a lot of science courses and along the way I just kept narrowing my focus as I found out what areas of science I liked.” —Dr. Kim Caldwell
For additional science career profiles and informaton, please visit science-education.nih.org
Leesa Davis, Cytogenetic Technologist
“Fall in love with biology, chemistry, math and computer classes early. I use my degree every day. Biology–specimens/cell division; chemistry-mixing and usage of reagents in our protocols; math–measuring DNA; computers–capturing and karyotyping chromosomes.”
Lynn Holt, M.S., C.G.C., Genetic Counselor, Department of Genetics
“I choose this career because I really enjoy the fast pace changes of science and genetics and I like to help people. I wanted a career that would allow me to be in healthcare but I was not interested in being a physician or nurse or working in a research laboratory setting.”
Bonnie Howard, Public Health Environmentalist
“I travel independently throughout the community to inspect food processing plants, hotels, restaurants, day care and nursing home food service facilities, jails, schools, night clubs and even body art facilities. Every day I am out meeting new people and seeing different things.”
Dr. Charles Woernle, M.D., M.P.H., State Epidemiologist
“As a medical epidemiologist working at a state health department, I have investigated acute disease outbreaks; reviewed and analyzed data from reported, notifiable disease cases; and planned and implemented intervention measures to reduce the occurrence of preventable communicable diseases.”
Dr. Brett McKinney, Ph.D., Assistant Professor, Department of Genetics
“Computational biology is an exciting interdisciplinary field of research that integrates concepts from statistics, mathematics, computer science, and physics to solve problems in biology and biomedical research.”
Daniel Sharer, Ph.D., FACMG, Assistant Professor and Director
“As a biochemical geneticist, my work specifically focuses on the diagnosis of inherited metabolic disorders, which typically afflict infants and young children, and often cause severe, even life threatening symptoms.”
Lynn Hudson, Biotechnology Business Development Manager Intelligence Systems
“Currently, the strongest demand in bioinformatics is for an individual with a degree in the life sciences and computer science/engineering, coupled with IT experience.”
Dr. David Weaver, Professor, Department of Agronomy and Soils
“Did I choose the career or did the career choose me? That is an interesting question. I have always been interested in science, and grew up on a farm. So the marriage of science and agriculture was a natural for me.”