Genetic medicine is unlike any other specialty. It plays a role in virtually everything, because genetics — the blueprints that lay the foundation for who we are, what we look like and the health conditions we inherit — are the fundamental links in nearly every human condition.
Specialists in the genetic medicine field, first recognized in the 1940s, say more than 7,000 rare diseases are caused by inheriting variants in one or a few genes, and more than half of the variants have not been identified.
Such conditions impact tens of millions of people worldwide, and individuals and families come to places like Johns Hopkins Medicine for answers.
Among patients’ most pressing questions is: What is causing my condition? Finding an answer is not an easy task. Genetic counselors and physicians probe family trees and DNA tests that may pinpoint slight variations in a patient’s genome. Genetic medicine specialists assemble teams of experts to help patients manage their symptoms, and researchers scour vast databases of genetic conditions to match symptoms and features that another person in the world has experienced.
Now, genetic medicine at Johns Hopkins — created as a department in 2019 — has a new leader at its helm. Ambroise Wonkam, a Cameroonian genetic medicine specialist from the University of Cape Town, joined Johns Hopkins as the director Jan. 1. His family will follow soon after the school year ends.
Are you excited about beginning your new post at Johns Hopkins Medicine?
Yes! I am grateful to my colleagues in genetic medicine and others at the school of medicine who trust that we can get the job done and have brought someone from a distant shore to lead this work. I’m looking forward to joining the Hopkins family and working with people who have shaped the genetic medicine field for many years. In fact, I met genetics pioneer Victor McKusick 20 years ago at the annual Johns Hopkins/Jackson Laboratory Short Course meeting of genetic medicine specialists in Bar Harbor, Maine.
Your research is focused on genetic variations among populations with African ancestry. Why is this research important to all people?
I believe Africa is the next frontier of global genetics. We are all African as a human family. Humans have lived in Africa for more than 300,000 years, and only a small fraction of humans initially moved out of Africa. So, most of the genetic variation remained in humans living in Africa, and we can still find this genetic variation among people of African ancestry today. There are numerous variants that we haven’t well investigated for their use in genetic medicine practice. This has huge implications for understanding human DNA and its impact on health. For example, alterations in the GJB2 gene explain about 50% of deafness in children of Asian and European descent, but it explains none in most people who are of African descent. We need to find these genetic variants by doing large-scale genetics studies in various populations to make genetic medicine equitable for all populations. However, it’s not a question of equity only. It’s a scientific imperative to understand our genome to its fullest. To make genetic medicine a global good, this needs to be at the forefront of efforts by funders, philanthropists and scientists. I believe a lot of this will happen in the next 10 years.
Who has had the most influence on your career?
My late father told me that if you want to make a difference, focus on what’s useful to you, your family and your nation, and maybe to humanity, if blessed with a God-given talent. That led me to select a field of concentration that would be impactful to my African nation. I focused my studies on sickle cell disease, because in certain regions of Africa, as many as 20% of children are carriers of the sickle hemoglobin variant that causes this disease.
Do you have any other mentors who have been significant figures in your career?
In terms of shaping a focus and direction for my career, an important figure is Stylianos Antonarakis, a Johns Hopkins trained human geneticist. I literally knocked on the door of his lab in Switzerland and said I wanted to train under him and continue in the field of genetic medicine. I learned to write and think similar to Antonarakis, and he taught me to always think about the rationale behind scientific questions.
Do you have any favorite pastimes?
I read a lot of history — in particular, the history of Egypt. I’m a big fan of anthropology. I also play guitar and write songs. None of my songs are published. I just do it for fun. I like hiking too.
What are your favorite good reads?
I enjoy reading the works of Senegalese historian and anthropologist Cheikh Anta Diop, who writes about the crucial role of science in humanity and, in particular, the contributions of people of African ancestry.
What are you most looking forward to in Baltimore?
I’m looking forward to helping the department make its work relevant to the community. I’m hoping to meet a lot of new friends and taste the local food. I haven’t eaten a Baltimore crab cake yet, but it’s high on my list.Read more about Ambroise Wonkam’s appointment and the Department of Genetic Medicine at hopkinsgenetics.org.