Penelope E. Bonnen, Ph.D.
Dr. Bonnen began her scientific career at Baylor College of Medicine, Houston, Texas, where she held a W.M. Keck Computational Biology fellowship. Working in the laboratory of Dr. David Nelson, she studied SNP haplotype diversity at cancer susceptibility genes. As a postdoctoral fellow, Dr. Bonnen continued her interest in genome variation and its role in susceptibility to disease, at Rockefeller University, New York, in Dr. Jeffrey Friedman’s laboratory. Dr. Bonnen, a Rockefeller University Women in Science fellow, used microarray technology to develop a HapMap for the genome of an isolated population in the South Pacific (Kosrae, F.S.M.) in order to facilitate GWAS studies of Metabolic Syndrome.
As an Assistant Professor at Baylor College of Medicine she is developing and applying methods for analyzing next-generation sequence data including detection of multiple types of variation (SNP, in/del, microsatellite) and sequence-based association studies. Dr. Bonnen is applying her acumen in bioinformatics and genetics to gene discovery studies for an array of phenotypes and diseases including disorders caused by mitochondrial dysfunction and cancer.
Carlos Bustamante, Ph.D.
Dr. Bustamante is a population geneticist whose research focuses on analyzing genome wide patterns of variation within and between species to address fundamental questions in biology, anthropology, and medicine.
During the past nine years as a faculty member at Cornell and Stanford, he has trained 43 post-doctoral fellows and graduate students as primary advisory. His group works on a variety of organisms and model systems ranging from humans and other primates to domesticated plant and animals with much of the research driving at the interface of computational biology, mathematical genetics, and evolutionary genomics.
Examples of Dr. Bustamante’s research include:
- Developing selection maps of the human genome which pinpoint rapidly evolving genes as well as genomic regions subject to strong selective constraint
- Developing a high-density map of genetic variation in the dog genome and using it to identify genomic regions underlying morphological differences among domestic dog breeds
- Investigating the fine scale genetic structure of human populations and its implication for genomic medicine
Current research focus is on human population genomics and global health including developing statistical, computational, and genomic resources for enabling trans- and multi-ethnic genome-wide association and medical sequencing studies of complex biomedical traits. His lab has an exceptional combination of talented students and post-docs, with both wet and dry-lab expertise, from diverse fields including: applied math, biostatistics/statistics, computational biology/bioinformatics, anthropology/evolutionary biology, and genetics/genomics.
James M. Ford, M.D.
Jim Ford is a medical oncologist and geneticist at Stanford, devoted to studying the genetic basis of GI and breast cancer development, treatment and prevention. Dr. Ford graduated in 1984 Magna Cum Laude (Biology) from Yale University where he later received his M.D. degree from the School of Medicine in 1989. He has been intern (1989-90) and resident (1990-91) of internal medicine, Clinical Fellow in Medical Oncology (1991-94), Research Fellow of Biological Sciences (1993-97), and joined the faculty in 1998. He is currently a tenured Associate Professor of Medicine (Oncology), Pediatrics (Medical Genetics) and Genetics, Director of the Stanford Oncology Fellowship Training Program, and Director of the Stanford Cancer Genetics Clinic.
Dr. Ford’s goals are to understand the role of genetic changes in cancer genes in the risk and development of common cancers. He discovered that the p53 and BRCA1 tumor suppressor genes regulate DNA repair, and has developed novel assays to examine DNA repair activity in primary human tissues. He is developing techniques for high-throughput genomic analyses of cancer to identify molecular signatures for targeted therapies. Recently, his team has identified a novel class of drugs that target DNA repair defective breast cancers, and have opened clinical trials at Stanford and nationally using these “PARP inhibitors” for the treatment of women with “triple-negative” breast cancer.
Dr. Ford’s clinical interests include the diagnosis and treatment of patients with GI cancers and breast cancer, and the management of families with a hereditary predisposition to cancer. He directs the Stanford Cancer Genetics Clinic, that sees patients for genetic counseling and testing of hereditary cancer syndromes, and enters patients on clinical research protocols for prevention and early diagnosis of cancer in high-risk individuals.
Dr. Ford’ honors and awards include the Sidney Kimmel Foundation for Cancer Research Scholar Award (1999), Doris Duke Foundation Clinical Scientist Award in Cancer Etiology and Pathogenesis (1999), Burroughs-Wellcome Fund New Investigator Award in Toxicology (2000), the V Foundation Translational Research Award (2003) and he is a Scholar of the Lauder Breast Cancer Research Foundation (2005). Dr. Ford is an Editor for the journals Cancer Research, PLoS Genetics, and DNA Repair, is on the Scientific Review Committee for the V Foundation for Cancer Research, and was recently the Council Chair of the California Breast Cancer Research Program.
Uta Francke, M.D.
Uta Francke, M.D., Professor of Genetics and Pediatrics at Stanford University School of Medicine, is an internationally acclaimed genetics researcher and clinician, who has spent over 30 years conducting studies that have advanced the understanding of many inherited disorders at the molecular level. In 1994, her laboratory discovered the gene for Wiskott-Aldrich syndrome, an inherited immunodeficiency. In 1999, she co-discovered the gene for Rett syndrome, an autism-like disorder that is one of the most common causes of developmental disability among girls, and she continued to elucidate the molecular pathology of this disorder. Dr. Francke also has made key discoveries in Marfan syndrome, Prader-Willi syndrome and Williams-Beuren syndrome, among others.
Dr. Francke has served as an advisor to and director of numerous professional organizations and societies. She was president of the American Society of Human Genetics in 1999 and is a founding member of the American College of Medical Genetics. She has received many honors and awards, including being elected as a member of the Institute of Medicine, the American Academy of Arts and Sciences and the European Molecular Biology Organization and as a fellow of the American Association for the Advancement of Science. She received the Antoine Marfan Award from the National Marfan Foundation and the Colonel Harland Sanders Lifetime Achievement Award in Genetics from the March of Dimes Birth Defects Foundation. She has been honored with the William Allan award, the top prize given by the American Society of Human Genetics recognizing substantial and far-reaching scientific contributions to human genetics, carried out over a sustained period of scientific inquiry and productivity. She has served as editor or editorial board member of many scholarly publications. For 4 years, she has worked as a consultant, and now as Senior Medical Director, at the personal genomics company 23andMe, Inc.
Dr. Uta Francke received her medical degree at the University Medical School in Munich, Germany, and served a residency in pediatrics at the Children’s Hospital of Los Angeles, California. Prior to her appointment as professor of genetics and Howard Hughes Medical Investigator at Stanford in 1989, she held academic appointments at the University of California at San Diego and Yale University School of Medicine.
Birgit Funke, Ph.D.
Dr. Funke received her Ph.D. in molecular genetics from the University of Würzburg, Germany and trained as a postdoctoral fellow at the Albert Einstein College of Medicine in New York where she identified the gene for 22q11 deletion syndrome. She continued her research on 22q11DS at Harvard Medical School where she also trained in Clinical Molecular Genetics.
Dr. Funke obtained her ABMG Board certification in Clinical Molecular Genetics in 2007 and is now Director of Clinical Research and Development at the Laboratory for Molecular Medicine and Assistant Professor of Pathology at Harvard Medical School. She also oversees clinical genetic testing and signout for inherited cardiovascular disorders.
Steven Lipkin, M.D.
Dr. Lipkin is a board certified Clinical Geneticist with a focus on genetic testing for adult genetic disorders, particularly cancer genetic syndromes. He is the author of MAPP-MMR, a bioinformatic program that is used to interpret whether Lynch syndrome missense variants are deleterious muations or benign polymorphisms. He received his undergraduate degree from Princeton University and his MD/PhD from University of California, San Diego. He became certified in Clinical Genetics at the National Human Genome Research Institute.
Dr. Lipkin currently practices at Weill Medical College of Cornell University and New York-Presbyterian Hospital.
Howard McLeod, Pharm.D.
Dr. Howard McLeod is Fred Eshelman Distinguished Professor and Director, UNC Institute for Pharmacogenomics and Individualized Therapy, University of North Carolina, Chapel Hill. Dr McLeod holds appointments in the UNC Schools of Pharmacy and Medicine, the Carolina Center for Genome Sciences, and the Lineberger Cancer Center. Dr McLeod is chair of the NHGRI eMERGE network external scientific panel and is a member of the FDA committee on Clinical Pharmacology. He is a member of the NIH NHGRI Advisory Council.
He also directs the Pharmacogenetics for Every Nation Initiative, which aims to help developing countries use genetic information to improve National Drug Formulary decisions. Howard has published over 420 peer reviewed papers on pharmacogenomics, applied therapeutics, or clinical pharmacology and continues to work to integrate genetics principles into clinical practice to advance individualized medicine.
Michael Nierenberg, M.D.
Dr. Nierenberg has been the personal physician to many of Silicon Valley’s CEOs, venture capitalists and lawyers, as well as prominent national and international figures. He has been mentioned frequently in local and national publications as a top internist. Dr. Nierenberg practiced internal medicine in Palo Alto and Menlo Park, California for 30 years, serves as an emeritus clinical professor of medicine at Stanford University and has consulted in the legal and venture capital arena. Dr. Nierenberg is also an advisor to Doximity, Elation EMR, and Shalon Ventures.
Dr. Nierenberg received his medical degree, cum laude, from Harvard University, and completed his residency training at Peter Bent Brigham Hospital in Boston and Stanford University Medical Center. Deeply committed to helping solve the obesity crisis and to promoting wellness, he is the author of “The Power of the Bite: Impressive Weight Loss, One Bite at a Time.”
Mark Nunes, M.D., FAAP
Mark Eugene Nunes, MD, FAAP is Division Chief, Medical Genetics for Kaiser Permanente San Diego, and Clinical Associate Professor of Pediatrics at the University of California, San Diego After completing his residency in Pediatrics in 1992, he pursued concurrent fellowships in Clinical Genetics, Laboratory Genetics, and Medical Teratology at the University of Washington, Seattle under the mentorship of Peter Byers, where his interest in distinguishing inborn errors from non-accidental injury began.
Appointed Director of a DNA Diagnostic Laboratory in from 1996 to 2003, he assumed a Pediatric faculty position in an Air Force teaching hospital, He became a regional consultant in child abuse, and remains an expert witness in Pediatrics, Forensic Pediatrics, Clinical Genetics, and Laboratory Genetics. From 2005 through 2008, he was the Co-Director of the Metabolic Bone Disease Clinic at Nationwide Children’s Hospital in Columbus, Ohio caring for over 300 patients and families with congenital and acquired bone fragility.
He is Academic Medical Director for Kaiser’s Healthy Bones Program in San Diego, and is a regional consultant for skeletal dysplasia and osteogenesis imperfecta for Kaiser Southern California. An interest in sudden infant death syndrome (SIDS) lead to his founding Kaiser’s San Diego Cardiogenetics Clinic, which he serves as Medical Co-Director. Since 2001.
He has spearheaded educational seminars at national meetings to educate Geneticists on evaluating suspected child abuse, and educate Forensic Pediatricians on recognizing genetic disorders. Research interests include the diagnosis and natural history of metabolic bone disease; ethnic and genetic factors affecting bone quality; use of the Electronic Medical Record (EMR) in “duty to inform” circumstances and in clinical diagnosis; clinical integration of cell-free fetal DNA (cffDNA) technology to prenatal diagnosis; and translational genomics.
Chad Nusbaum, Ph.D.
Chad Nusbaum has been the co-director of the Genome Sequencing and Analysis Program at the Broad Institute since 2001. In 2012 he was appointed founding Scientific Director of the new Broad Technical Development Labs, an innovation incubator for the Institute. He has led a wide range of technology development projects focusing on new DNA sequencing methods and their biological applications, including new and improved sample preparation methods, improved process workflows and new computational tools. For example, his team invented the technology for the SureSelect targeted sequencing reagent now commercialized by Agilent. He has led genome projects for a wide range of organisms, including viruses, prokaryotes, eukaryotes and protists.
Nusbaum received his PhD from MIT in 1991, did his postdoctoral training at UC Berkeley and then was an associate scientist at Mercator Genetics, Inc. In 1996, he joined the Whitehead Institute/MIT Center for Genome Research, now the Broad Institute, as a research scientist to create genome-wide maps for human and mouse. In 1997, he joined the pilot project for human genome sequencing that pioneered high-throughput methods for large-scale sequencing where he was responsible for building and leading sequencing and technology development teams. From 2001 to 2003, as co-director of the Genome Sequencing and Analysis Program, Dr. Nusbaum led the Institute’s work as a major contributing center to the Human Genome Project and directed the completion of the sequences of human chromosomes 8, 15, 17 and 18.
Iris Schrijver, M.D.
Iris Schrijver, M.D. received her medical degree from the University of Utrecht in The Netherlands and completed a post-doctoral research fellowship at Stanford University. She is a diplomate of the American Board of Medical Genetics, and holds specialty certification in Clinical Molecular Genetics. In addition, she is a diplomate of the American Board of Pathology in Clinical Pathology. She also serves as President of the Association for Molecular Pathology.
Dr. Schrijver is Associate Professor of Pathology and Pediatrics. She directs the diagnostic Molecular Pathology laboratory at Stanford University Medical Center and Lucile Packard Children’s Hospital, as well as the Molecular Genetic Pathology fellowship program and is Associate Program Director for residency training in Clinical Pathology.
Her research interests include the genetic basis and genotype-phenotype correlations in cystic fibrosis and hereditary hearing loss, and the development and application of diagnostic innovations.