Dr Clair Francomano is a leading genetics professor. Dr Clair Francomano has been involved in the care of individuals with Ehlers-Danlos Syndrome and other hereditary disorders of connective tissue throughout her career. During her years at the National Institutes of Health, she spearheaded a longitudinal study on the natural history of EDS that ran for over 20 years.
Since 2019, Dr Francomano has worked as a professor of medical and molecular genetics at the Indiana University School of Medicine and director of the Residency Training Program in Genetics at Indiana University. She was Chief of the Human Genetics and Integrative Medicine Section in the Laboratory of Genetics, National Institute on Aging from 2001-2005 and chief of the Medical Genetics Branch at the National Human Genome Research Institute, National Institutes of Health from 1996-2001. Dr Francomano attended Yale College as an undergraduate and received her M.D. from Johns Hopkins University School of Medicine, where she trained in internal medicine and medical genetics. She has published more than 150 peer-reviewed articles, reviews and book chapters.
Dr. Clair A. Francomano is a Professor of Medical and Molecular Genetics at Indiana University School of Medicine. She received a BA in Biology, magna cum laude, from Yale College in 1976 and graduated from the Johns Hopkins University School of Medicine in 1980. She remained at Johns Hopkins to complete an internship and residency in Internal Medicine followed by a fellowship in Pediatric and Medical Genetics. She is Board Certified in Internal Medicine and in Molecular Genetics and Genomics.
Dr. Francomano served on the full-time faculty at Johns Hopkins from 1984 until 1994, when she left Hopkins to join what was then the National Center for Human Genome Research (later to become the National Human Genome Research Institute or NHGRI). She was the first Clinical Director of the NHGRI and Chief of the Medical Genetics Branch. She directed the Metropolitan Washington Medical Genetics Fellowship Program from 1995-1998. In 2001 she joined the National Institute on Aging as Chief of the Human Genetics and Integrative Medicine Section in the Laboratory of Genetics.
From 2005-2019 Dr. Francomano was Director of Adult Genetics at the Harvey Institute for Human Genetics at Greater Baltimore Medical Center. During this time, she established the Ehlers-Danlos National Foundation Center for Clinical Care and Research at the Harvey Institute. She was recruited to Indiana University in 2019 and directs the residency programs in Medical Genetics at IU. She heads the Ehlers-Danlos Society Center at Indiana University Health.
Dr. Francomano has published over 150 peer-reviewed papers, reviews and book chapters. Her research has focused on clinical and molecular aspects of the hereditary disorders of connective tissue. Her laboratory, with Dr. Hal Dietz as the lead author, reported on the identification of FBN1 as the gene causing Marfan syndrome in 1991. She is a Founding Fellow of the American College of Medical Genetics and Genomics and a member of both the American Society of Human Genetics and the American College of Physicians.
Dr. Francomano’s contributions to multiple patient support groups, including the National Marfan Foundation, Little People of America and the Ehlers-Danlos Society have been recognized with multiple awards over the 40 years she has been in practice. She currently serves as Chair of the Medical and Scientific Board for the Ehlers-Danlos Society and is a member of the Steering Committee for the International Consortium on Ehlers-Danlos Syndrome and Hypermobile Spectrum Disorders. Dr. Francomano also serves as Chair of the Scientific Advisory Board for Alström Syndrome International.
Dr. Francomano is married to John L.S. Thorpe, who retired in 2019 from 36 years of service as an educator and administrator at St. Paul’s School in Baltimore. They have 2 adult children, Emily Vesnovskiy of Nutley, NJ, and Charles Thorpe of Seattle, Washington.
Here are the main takeaways from Clair Francomano’s interview with Dinis Guarda:
About Clair Francomano’s background
“My father was an inspiration to me: he was a practitioner whose patients loved him and he loved his patients. That was very important for me and I understood I wanted to become a doctor by the time I was in junior high school. I was introduced to genetics at a young age at the Jackson Laboratory in Bar Harbor Maine; I was 17 at the time. When I was in High School I did a 10-week summer program at the Jackson Laboratory where they were conducting research about mouse genetics and I got hooked by the potential of that field. From there I knew what I wanted to do and went on to attend Yale College as an undergraduate and received my M.D. from the Johns Hopkins University School of Medicine, where I trained in internal medicine and medical genetics. I joined the Hopkins faculty full-time in 1984. My mentor, Dr. Victor McKusick coined the phrase “Hereditary Disorders of Connective Tissue” and wrote the first book on the subject;I became part of his team. There is where my career started.”
Early genetics research
"At that time, before the human genome project was completed, it was much more difficult to identify the genes underlying hereditary disorders. What we were able to do back then was to find links between specific disorders and molecular markers on specific chromosomes, and then search for “candidate genes” in the ear-marked chromosomal region. The way we were conducting this research was very primitive compared with what we do right now with the technology and techniques we have.
The Human Genome Project was a true breakthrough in our field. The HGP really catapulted the entire field of genetics and genomics. There is now an unprecedented amount of genetics research, focused on both the rare Mendelian diseases and genetic contributions to common diseases. We recognize more than 22k genes in the human genome, but despite the tremendous advances in technology and computational capacity, there are still many disease genes yet to be found. Although we have had many achievements thanks to HGP we are still finding challenges, like translating theory to practice, meaning specific practical therapies. We know what genes provoke a specific disease but we still struggle to create specific solutions for them."
"As a student, under the tutelage of Dr. Victor McKusick, I was part of a research group that was looking for some recessive disorders in the Amish community. As most of the Amish community in Pennsylvania came from 7 founder families, there was an important component of inbreeding, some of them were developing a condition of short stature or dwarfism called Cartilage-hair hypoplasia. Eventually, the gene that caused that condition was found by researchers in Finland. As a student doctor, it was a great field experience.
In 2001, I felt I needed to change my job as I was commuting between Baltimore and Bethesda (where the NIH is located) and I had very little time to spend with my family. So I found an open position as the Chief of the Human Genetics and Integrative Medicine Section in the Laboratory of Genetics, National Institute on Aging, which is located in Baltimore. By that time, the human genome project was very advanced and once completed they made it publicly available which supercharged our ability to conduct genetic research.
In 2005 I was offered a position as Director of Adult Genetics at the Harvey Institute of Human Genetics, which is part of the Greater Baltimore Medical Center. The Harvey Institute was founded by Dr. Maimon Cohen with the support of Board members from GBMC who had a very modern and open approach to genetics. They wanted to create tangible solutions from genetics research and bring those solutions to the community. At the Harvey Institute I established the Ehlers-Danlos National Foundation Center for Clinical Care and Research, and since that time working with the Ehlers-Danlos Syndrome has become my purpose, something I am still involved in right now."
The Ehlers-Danlos syndromes
“The Ehlers-Danlos syndromes are a group of connective tissue disorders that can be inherited and are varied both in how they affect the body and in their genetic causes. They are generally characterized by joint hypermobility (joints that stretch further than normal), skin hyperextensibility (skin that can be stretched further than normal), and tissue fragility. I have been privileged to serve as Chair of the Medical and Scientific Board for the Ehlers-Danlos Society since 20016, and on the Steering Committee for the International Consortium on the Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders. The International Consortium has 18 different working groups with many prominent researchers from around the world to focus on the different types of Ehlers-Danlos syndrome and various co-morbid conditions associated with EDS.”
Inclusion and Ethics
"There has been a discussion in society regarding how to be more inclusive of people with rare conditions and disabilities. There is a strong current that says that society, and all the processes that take place in society, should adapt to the needs of all the people. For example, the deaf community has lobbied for sign language translation to be made available and elevator buttons have been lowered to accommodate people in wheelchairs and persons of short stature. I believe that technology is actually helping us have a more inclusive society. We need to promote a more ethical society on all levels and that is what I am involved with right now.
In fact, ethics are critical in genetics. What we do in genetic counselling is provide people with all the information they need to make the best reproductive and treatment decisions. Our primary rule as physicians and as researchers is “do no harm.” Everything we do with regard to genetic research is intended to improve the human experience. And we, professionals and researchers, have a responsibility to ensure that genetic research and therapies are all utilized in a strictly ethical manner."
Recognition and Awards