Birth Defects Insights
The Birth of Birth Defects Research:
How a Small Group Made a Big Difference
that Continues to Improve Lives
By Tacey E. White, PhD, Teratology Society President
From its inception, the Teratology Society has contributed to some of the most important discoveries in birth defects research and has positively impacted the lives of countless children and families worldwide. As I look forward to our Society’s 56th Annual Meeting this June, I looked back at some of our field’s major accomplishments and was really impressed. Talk about return on investment in funding! Birth defects research has significantly advanced the science in fields such as developmental biology, genetics, and toxicology. Most importantly, it has improved the quality of life for the most vulnerable members of our communities. Today, we face new challenges, but I am confident that our field will again rise to the occasion and find solutions to current crises, such as the Zika virus, and future challenges in birth defects research, thereby impacting the lives of children and families for generations to come.
Averting an American Crisis
Founded by Drs. Josef Warkany, James G. Wilson and F. Clarke Fraser in 1960, the Teratology Society was intended to foster the exchange of information relating to birth defects including their nature, cause, mechanism and prevention. The timing couldn’t have been better. Within a year, the thalidomide crisis would hit Europe, and FDA reviewer and soon-to-be Society member, Dr. Francis Kelsey, would be hailed as a national hero for averting a similar crisis in the US by denying the approval of thalidomide.
At a time when the term, “translational research” was not even invented, the Society brought together a wide range of scientific and medical disciplines. While establishment of the Society formalized teratology research, Warkany, Wilson and Fraser had already contributed decades of research and hundreds of publications to the study of birth defects, in such areas as neural tube defects and other brain malformations, cleft lip and cleft palate, transplacental carcinogenesis; as well as defining the role of nutritional deficits, maternal diabetes, X-rays, DNA synthesis inhibitors, genes, and gene-environmental interactions in the development of birth defects. Fraser also established the link between medical genetics and experimental teratology and developed the field of genetic counselling.
In the wake of thalidomide, Warkany and Wilson had leadership roles in educating scientists and regulators in the principles of teratology, and best practices for study designs and fetal evaluation. They, along with Kelsey at the FDA, were key figures in establishing the first set of governmental guidelines and regulations to protect developing babies from radiation exposure (ICRP Recommendations) and to appropriately test pharmaceutical products (1966 FDA Guidelines).
Solidifying the Study of Teratology
Teratology Society members have always taken a true bedside-to-bench-to-bedside approach, covering the entire spectrum of birth defects research - from observing trends in human populations, to identifying mechanisms of action in the laboratory, to applying this knowledge to the prevention of birth defects from a wide range of causes. We continue that tradition today. Detailing all the contributions of all of our members would be impossible, but a review of some key highlights leaves no doubt about the importance of our work.
Teratology Society members identified that the acne medication, Accutane, was a human teratogen, elucidated mechanisms of action, educated the public and physicians, and advocated for stricter warning labels and safeguards for use.
Fetal Alcohol Spectrum Disorder
Decades of research on fetal alcohol syndrome have been conducted by Society members, defining the critical periods of susceptibility, the various clinical manifestations of the condition, biomarkers of injury, and prevention strategies. Active research and educational programs are still being conducted today in this important area.
The importance of proper nutrition for healthy development of the baby was investigated by Society co-founders, and continues to be vitally important today. Society members identified folic acid deficiency as a key factor in the development of neural tube (NT) defects, such as spina bifida, and have become staunch advocates for fortification of food with folic acid, an action that prevents 40-50% of NT defects each year in countries where fortification is required.
The identification of maternal diabetes as an important cause of birth defects and fetal harm was another important accomplishment of Society members, resulting in medical guidelines for proper control of diabetes during pregnancy.
Teratology Society members have collectively tested hundreds of chemicals and drugs for their potential to cause birth defects, identified mechanisms of action, and assessed human risk. The information goes directly into the drug label, helping physicians make important prescribing decisions for pregnant women with serious medical conditions. In addition, Society members have counseled thousands of pregnant women on their risks of birth defects based on genetic predisposition and inadvertent exposures, disciplines that sprang directly out of the efforts of our co-founder, Clarke Fraser, and other members.
Zika Virus, Microbiomes and the Future of Teratology
Currently, Teratology Society researchers are ferociously tackling the Zika virus epidemic, with active research to confirm the link with microcephaly, define susceptible periods during development, and develop prevention and mitigation strategies. We are also investigating how the maternal and fetal microbiome affect fetal development and postnatal health, and how in utero exposures can affect the health of the offspring throughout life and as adults through epigenetic mechanisms. Every day, we are identifying new genetic causes for birth defects and syndromes.
Looking to the future, I can see our work leading to advances such as gene therapy to prevent congenital defects, in utero corrective surgery, prevention of birth defects by solving the Zika puzzle, continuing to advocate for folic acid fortification, and so much more.
This important work deserves appropriate resources. More funding for teratology research is paramount in continuing to understand birth defects and devise prevention strategies, and so is the continued hard work and brain power of our Society members! Please consider joining us in June at our Annual Meeting and as a Society member.
About the Teratology Society
Scientists interested or are already involved in research related to topics mentioned in this blog are encouraged to join the Teratology Society, the premier source for cutting-edge research and authoritative information related to birth defects and developmentally-mediated disorders. The call for session proposals for the 2017 Annual Meeting deadline is April 15th. All scientists are encouraged to submit proposals.
Teratology Society members include those specializing in cell and molecular biology, developmental biology and toxicology, reproduction and endocrinology, epidemiology, nutritional biochemistry, and genetics, as well as the clinical disciplines of prenatal medicine, pediatrics, obstetrics, neonatology, medical genetics, and teratogen risk counseling. In addition, it publishes the scientific journal, Birth Defects Research. Learn more at www.Teratology.org.