It’s hard to believe that less than 20 years ago, the White House announced what may be the most important discovery in human history: we had unraveled the structure of the human genome. After years of painstaking effort from scientists all over the world , we finally discovered how the genes that make us who we are are packaged together.
With the advent of that paradigm-changing discovery it was inevitable that if we understood the structure of our DNA, we could change it or even create genomes we designed ourselves in the laboratory. What I at least didn’t anticipate was the speed of how scientists have learned to do both. Jennifer Doudna, in her fascinating account of how she learned to “edit” DNA by taking out some pieces and/or adding others, was one of the first to see the implications of her groundbreaking discovery.[i] As J. Craig Venter put it when he commented from the Oval Office on the significance of the breakthrough, if we know the composition of native DNA, we can make our own combination of genes in the laboratory. That became true faster than even predicted: young graduate students were making new forms of cellular life within years of the 2,000 announcement by altering genome structure.
Manipulation of DNA in humans is already in motion—whether we like it or not. The most important implication of this is not only that we may be able to excise genes that cause disease, but modify or exchange those that control native qualities like intelligence, eye color, or even gender. Predictably, gene editing in humans has already provoked a storm of controversy; The Chinese scientist He Jiankui edited the gene that permits human HIV infection[ii] and now Russian biologist Denis Rebrikov has proposed gene editing in the embryos of deaf couples to attack the mutation that produces loss of hearing[iii]. While He’s research was conducted in secrecy, Rebrikov’s intention was transparent, and provoked a review from the Russian Ministry of Health, which put a temporary stop on the work. There is still a long way to go before gene editing is free of unwarranted “off target” gene damage and the longevity of children who have had genetic manipulation has not been tested. The question of who will be able to afford genetic alterations is also an issue: there may be a privileged segment of the population with enhanced abilities that exists in sharp contrast to those who have no access to these options. It’s a new world, and scientists continue to pursue these dimly lit, promising-and perhaps risky new pathways as we try to keep up with responsible surveillance and regulation of the new efforts.
[i] Doudna JA and Sternberg SH. A Crack in Creation: Gene Editing and the Unthinkable Power to Control Evolution.2017
[ii] Wikipedia. The Lulu and Nana controversy. https://en.wikipedia.org/wiki/Lulu_and_Nana_controversy. Accessed 10/28/19
[iii] Cyranowski D. Russian ‘CRISPER-baby scientist has started editing genes in human eggs with goal of altering deaf gene. Nature.com/articles/d41586-019-03018_0tm_source=Nature briefing. October 18,2019
Marianne J. Legato, MD, Ph. D. (hon. c.), FACP is an internationally renowned academic, physician, author, lecturer, and pioneer in the field of gender-specific medicine. She is a Professor Emerita of Clinical Medicine at Columbia University College of Physicians & Surgeons and an Adjunct Professor of Medicine at Johns Hopkins Medical School. Dr. Legato is also the Director of the Foundation for Gender-Specific Medicine, which she founded in 2006 as a continuation of her work with The Partnership for Gender-Specific Medicine at Columbia University. She received an honorary PhD from the University of Panama in 2015 for her work on the differences between men and women.
At its core, gender-specific medicine is the science of how normal human biology differs between men and women and how the diagnosis and treatment of disease differs as a function of gender. Dr. Legato’s discoveries and those of her colleagues have led to a personalization of medicine that assists doctors worldwide in understanding the difference in normal function of men and women and in their sex-specific experiences of the same diseases.
She began her work in gender-specific medicine by authoring the first book on women and heart disease, The Female Heart: The Truth About Women and Coronary Artery Disease, which won the Blakeslee Award of the American Heart Association in 1992. Because of this research, the cardiovascular community began to include women in clinical trials affirming the fact that the risk factors, symptoms, and treatment of the same disease can be significantly different between the sexes. Convinced that the sex-specific differences in coronary artery disease were not unique, Dr. Legato began a wide-ranging survey of all medical specialties and in 2004, published the first textbook on gender-specific medicine, The Principles of Gender-Specific Medicine. The second edition appeared in 2010 and the third edition, dedicated to explaining how gender impacts biomedical investigation in the genomic era, won the PROSE Award in Clinical Medicine from the Association of American Publishers in 2018. A fourth edition is forthcoming.
She also founded the first scientific journals publishing new studies in the field, The Journal of Gender-Specific Medicine, and a newer version, Gender Medicine, both listed in the Index Medicus of the National Library of Medicine. She has founded a third peer-reviewed, open access journal, Gender and the Genome, which focuses on the impact of biological sex on technology and its effects on human life.
Dr. Legato is the author of multiple works, including: What Women Need to Know (Simon & Schuster, 1997), Eve’s Rib (Harmony Books, 2002), Why Men Never Remember and Women Never Forget (Rodale, 2005), Why Men Die First (Palgrave, 2008), The International Society for Gender Medicine: History and Highlights (Academic Press, 2017), and most recently, The Plasticity of Sex (Academic Press, 2020). Her books have been translated into 28 languages to date.
As an internationally respected authority on gender medicine, Dr. Legato has chaired symposia and made keynote addresses to world congresses in gender-specific medicine in Berlin, Israel, Italy, Japan, Panama, South Korea, Stockholm, and Vienna. In collaboration with the Menarini Foundation, she is co-chairing a symposium on epigenetics, Sex, Gender and Epigenetics: From Molecule to Bedside, to be held in Spring 2021 in Italy. She maintains one of the only gender-specific private practice in New York City, and she has earned recognition as one of the “Top Doctors in New York.”