Genetics has always been regarded as a difficult subject even at the basic levels like high school and this is perhaps the reason why we have only a few experts in the field.

One day, I stumbled upon the county’s pioneer medical geneticist!

What picture comes in your mind when you conjure meeting a doctor with a PhD and the only one in the discipline? Of course a big man, starting to develop some grey hair, with a face exuding the usual aura of seriousness that characterizes most busy people.

Dr. Leon Mutesa, is the opposite. A clean-shaven man dressed in a white shirt with rolled up sleeves and a grey tie. His demeanor is warm and welcoming, his gaze attentive. He is 42 but looks much younger. It is hard to believe this soft-spoken man is a pioneer in the genetics field in which he has worked as the sole expert for 6 years before another fellow recently emerged having finished school last year.

What does medical geneticist do and why are they few?

The primary role of a geneticist is to examine and provide an in-depth consultation for individuals from the young to the elderly with genetic disorders through series of lab work and DNA testing. He also engages in the complex treatments processes required for people with genetic problems.

Mutesa says there are few experts in the field because it requires a strong curriculum background in science, math, biology and chemistry. It involves acquiring a medical degree, a residency program, fellowships and passing required medical licensing exams after which a geneticist can begin practicing in research facilities as well as standalone practices.

Dr. Mutesa explains that it was not a walk over schooling experience for him to become one. He graduated from the University of Rwanda in 2006 with a degree in general medicine from where he went straight for post graduate studies in Belgium at the University of Liege where he earned a PhD in human genetics and molecular biology in 2009. He says it was a period of intense study and complex research, 

"Genetics research was very complex and hard. Before going to the University of Liege for my studies, I thought I knew something. To my surprise, it was like I knew only1 percent of what genetics is. I just had to work very hard,” he says.

After his PhD in 2009, he extended his training with post-doctoral studies at Erlangen University in Germany.

Inspiration to take on genetics

It all started in his second year of studying medicine when a visiting professor of human genetics from Belgium triggered his love for the discipline.

"He really motivated me to go for it. We designed together a research project for children with unexplained mental retardation. It was a very comprehensive report by the time we submitted it and it even included a free scholarship for me to go to Belgium and study medical genetics,” he says.

Besides, his mum had started an organization for children living with mental disabilities most of whom was as a result of genetic disorders,

"I was motivated by that devotion. Patients with genetic problems do exist in hospitals and we don’t always focus on those kinds of patients. It is a field that has been ignored and that is why I really wanted to study it,” he says.

Work in Rwanda

He is always in and out of the country, frequently visiting Belgium and France for research. In Rwanda, he currently works at the University of Rwanda as associate professor of human genetics.

He also works at Rwanda Military Hospital as a clinical genetic specialist andwith the Rwanda National Police for the implementation of the Forensic Science Laboratory.

Achievements in the discipline

In 2006 while still at University of Rwanda, he pioneered the establishment of a centre for human genetics research at the university.

"It is growing now and it is where we perform most of our analyses for genetic issues,” he says.

He has also initiated a number of research projects. Currently, he has 7 projects that he is supervising with PhD students in Rwanda.

In 2011, he was appointed by the government as a Head of medical research Division at Rwanda Biomedical Centre, a post he quit in 2013 in order to focus on further research.

He has done practical activities in Rwanda focusing on sensitizing doctors and physicians how to handle patients with genetic complexities. He says he has seen positive change in the way doctors are handling them,

"At different levels of hospitals we had staff meetings to explain those kinds of patients to the physicians. I can say that I have been seeing an increase in consultations when am here,” he says.

Among other things, he has advocated for health insurance coverage for genetic examination for patients and currently, most health insurances cover the Karyotype exam, a test to see whether the number of someone’s chromosome number is normal.

Best experiences during his career

"The best thing about my job is just to see the improvement of the lives of those patients,” he says before painting it with an example.

"I can give you an example. There were beliefs even from professionals that if a person had Trisomy 21 then they would not survive. I have seen the improvement in their lives ever since we started to provide these services.” 

Trisomy 21 is a genetic disorder associated with physical growth delays, and mild to moderate intellectual disability.

Dr. Mutesa further says that when a child is discovered at birth to have trisomy 21, a program is initiated to prevent complications. 

"In normal conditions, a child has to be able to sit at six months, to stand up at nine to ten months, and to start walking at around one year. For a person with Trisomy, when you don’t do anything, they will have development delays; a child can sit at two years and walk at three,”

"So, we initiate a program for administering physiotherapy to stimulate the child’s development. It takes 6 to 9 months. We keep reviewing the child and at six months they start to sit like the normal ones, at nine, they stand up,”

"It is my dream every day to see their improvement,” he says.

When not working, Dr. Mutesa enjoys travel and going out with family. editorial@newtimes.co.rw