We are a group of experienced and well-published scientists who are collaborating to investigate the role genetics play in Spina Bifida. We are extremely encouraged by the results from our research and excited about its potential application in preventing Spina Bifida.
- Edward Lammer, MD. Children’s Hospital Oakland Research Institute (CHORI)
- Nicholas J. Marini, Ph.D. University of California, Berkeley (UCB)
- Dennis Gilbert, Ph.D. VitaPath Genetics
- Gary M. Shaw, DrPh. Stanford University
- John Witte, Ph.D. University of California, San Francisco (UCSF)
- Kristal Louie, Genetic Counselor, Spina Bifida Genetics Research Project
Edward Lammer, MD. Children’s Hospital Oakland Research Institute (CHORI)
Edward Lammer is a Pediatrician and Principal Investigator at CHORI who through his distinguished career has led an international effort to determine the environmental causes of birth defects. He has conducted international clinical studies that helped establish the teratogenicity of vitamin A and related retinoids.
He and his colleagues recently established that maternal tobacco use in early pregnancy doubles the risk of congenital orofacial deformities such as cleft lip and cleft palate. Moreover, Dr. Lammer developed compelling evidence that fetuses with a rare form of protein active in fetal development (TGF-alpha) are up to ten times more sensitive to the consequences of maternal smoking. The focus of his current research studies the contribution of fetal genetic susceptibility to the risk for birth defects related to environmental chemical exposure during pregnancy.
Another subject of Dr. Lammer’s research is the beneficial effect of the vitamin folic acid in preventing spina bifida, cleft lip, and cleft palate. He is in the midst of a large study to search for and define genetic variation in the beneficial effect of folic acid as a means to identify the molecular mechanism of activity. This knowledge will help in the assessment of folic acid fortification of flours and grain products for lowering the incidence of congenital defects.
At CHORI, Dr. Lammer’s laboratory provides families and individuals with testing for genetic diseases such as cystic fibrosis, MCAD deficiency, achondroplasia, and Prader-Willi, Angelman, and fragile X syndromes.
Dr. Lammer is the Principal Investigator for this study.
To learn more about CHORI: http://www.chori.org/About_CHORI/About_CHORI/about_chori.html
Nicholas J. Marini, Ph.D. University of California, Berkeley (UCB)
Nicolas J. Marini is a Research Scientist in the Department of Molecular & Cellular Biology at UC Berkeley. He was the lead author on the peer-reviewed publication describing the folate-remedial variants of MHTFR that set the scientific framework for this study.
For the past five years, he has been the lead scientist in studies identifying genetic variants in vitamin-dependent enzymes that affect function, yet may be amenable to vitamin remediation. He is currently involved in projects aimed at elucidating the potential health and fitness benefits of characterizing and nutritionally correcting such alleles. Prior to UC, Berkeley, Dr. Marini spent nine years in the biotechnology industry where he was primarily involved in developing genomic technologies to enable more efficient drug discovery and screening processes.
Dr. Marini received his Bachelor’s degree from Georgetown University, his Ph.D. in Molecular Biology from The Johns Hopkins University and completed post-doctoral work at The Scripps Research Institute in La Jolla, CA.
Dr. Marini is a Co-Investigator for this study.
To read Dr. Marini’s folic acid publication: http://www.pnas.org/content/105/23/8055.full.pdf
To learn more about the Department of Molecular & Cellular Biology at UC Berkeley http://mcb.berkeley.edu/
Dennis Gilbert, Ph.D. VitaPath Genetics
Dennis A. Gilbert is the Chief Scientific Officer and Founder of VitaPath Genetics. Prior to founding VitaPath Genetics, Dr. Gilbert was Chief Scientific Officer and Vice President of Research of Applied Biosystems and a Vice President of Applera Corporation. He also directed the Applied Biosystems Advanced Research and Technology (ART) organization, which was responsible for identifying and developing new technologies.
Previously, Dr. Gilbert had more than ten years of senior management experience at Applied Biosystems and Celera. Before being named Vice President of Advanced Research and Technology, he held the positions of Vice President, Genomics Applications, Applied Biosystems and Vice President, Gene Discovery, Celera. Prior to joining Applied Biosystems as a research scientist, he was Program Manager, Genetics at W.R. Grace.
Dr. Gilbert received a bachelor of science in biochemistry and cell biology from the University of California, San Diego, and his Ph.D. in genetics from Johns Hopkins University, followed by postdoctoral training in population genetics at the National Cancer Institute.
Dr. Gilbert is a Co-Investigator in this study.
Gary M. Shaw, DrPh. Stanford University
Gary M. Shaw is Professor of Pediatrics in the Division of Neonatal & Developmental Medicine at the Stanford University School of Medicine. Dr. Shaw has a long and distinguished career conducting epidemiologic research of human birth defects. Dr. Shaw has collaborated with many key researchers in the field of birth defects and has and published more than 200 scientific papers. He was the Research Director/Epidemiologist of the March of Dimes California Research Division for 20 years. He has recently been appointed Professor of Pediatrics at Stanford University.
Over the last 20 years he has led 8 large population-based epidemiologic studies involving thousands of maternal interviews and DNA sample collections. These studies have involved a variety of birth defects and a variety of risk factors, including medication use, occupational exposures, alcohol use, smoking, nutritional factors, medical conditions, and genetic variants.
Dr. Shaw is currently Associate Editor of the journal Birth Defects Research and the American Journal of Epidemiology. He is an active member of the Teratology Society, the Society for Epidemiologic Research, the Society for Pediatric and Perinatal Epidemiologic Research, a Fellow of the American College of Epidemiology, an elected member of the American Epidemiological Society, and was awarded the Godfrey P. Oakley, Jr. Award by the National Birth Defects Prevention Network in 2007. He has been a scientific advisor to several national committees (e.g., the National Children’s Study) and strategic planning panels for several institutes of the NIH (NIEHS, NICDR, and NHLBI).
Dr. Shaw is a Collaborator on this study.
To learn more about Stanford University School of Medicine: http://med.stanford.edu/
John Witte, Ph.D. University of California, San Francisco (UCSF)
John Witte is Professor of Epidemiology and Biostatistics at the University of California, San Francisco where he also serves as the Associate Director of the Institute for Human Genetics. Dr. Witte received his PhD in Epidemiology from UCLA and had his first faculty appointment in the Department of Preventive Medicine at the University of Southern California. Prior to joining UCSF, he spent eight years at Case Western Reserve University, in the Division of Genetic and Molecular Epidemiology.
Dr. Witte’s research constitutes applied and methodologic genetic epidemiology, with the overall aim of deciphering the mechanisms underlying complex diseases. He has initiated a series of prostate cancer genetic epidemiology studies, which have had numerous successes toward sorting out the genetic basis of this disease. These include findings from searches across the human genome and from work on specific candidate genes. In particular, using a combination of genome-wide scan, allelic imbalance, and association studies, Dr. Witte and colleagues have isolated distinct chromosomal regions that appear to harbor genes that cause prostate cancer.
Dr. Witte’s methodological research mostly involves issues surrounding the design and analysis of genetic epidemiologic studies. Dr. Witte has provided extensive applications of hierarchical modeling, including for investigating genetic pathways and gene-environment interactions. His work has led to the growing use of hierarchical modeling, and the development of additional tools for such analyses.
Dr. Witte is a Collaborator on this study.
For more information about the University of California, San Francisco (UCSF): http://www.ucsf.edu/
For more information about the Institute for Human Genetics at UCSF: http://humgen.medschool.ucsf.eduback/
Kristal Louie, Genetic Counselor-Spina Bifida Genetics Research Project
Thank you for visiting the SBGRP webpage. I feel extremely lucky to be involved in this breaking study. I first learned about spina bifida in high school and it has captured my attention. I graduated with a degree in Cell Biology and Genetics from the University of British Columbia in Vancouver Canada. I then completed my masters in Genetic Counselling. My master thesis involved assessing the knowledge high school students have on folic acid and spina bifida. When I worked at the BC Children’s Hospital Myelomeningocele Clinic I developed educational material on spina bifida with the help of many families. Then I moved to Sacramento, California for 4 years and worked as genetic counselor at Kaiser Health systems. I started at VitaPath in 2009, supporting the first study of the Spina Bifida Genetics Research Project. I am excited to continue to support VitaPath genetics and answer all of your questions for the second study. I am also a study coordinator at BC Children's Hospital in Vancouver. When I am not at work I enjoy trying all the great Asian restaurants in Vancouver. I have such a great respect for all of you who have donated a saliva sample and continue to help the cause by spreading the word. Thank you again.