H3Africa: Using Genomics to Improve Health in African Populations

H3Africa Kidney Disease Research Network
The H3Africa Kidney Disease Research Network team at the National Institute of Diabetes and Digestive and Kidney Diseases

One goal of our outreach efforts is to spread the knowledge of genetics across the globe to reach diverse and under-served populations. To this end, the Department of Human Genetics partners with programs such as the Human Heredity and Health in Africa (H3Africa) Initiative. This program, supported by the Welcome Trust and the National Institutes of Health Common Fund, was established to expand genetics research efforts across all of Africa by training young investigators and improving research infrastructure.

Last fall, two physician faculty members involved with H3Africa joined our Master’s degree program: Dr. Charlotte Osafo, from the University of Ghana, Accra; and Dr. Yemi Raji, from the University of Ibadan in Nigeria.

Dr. Osafo and Dr. Raji are kidney specialists on a mission to learn the foundations of genetics to help them understand the genetic etiology of kidney disease. They are co-principal investigators of the H3Africa Kidney Disease Research Network, aiming to establish genomics labs and collect thousands of patient DNA samples in their home countries. But to have an impact, they need technical and analytical skills in genetics. They had both noticed a striking difference in the profile of patients with kidney disease in African versus western populations. Dr. Osafo noted that patients she saw during her nephrology fellowship in the UK had slowly progressing kidney disease, brought on by risk factors such as diabetes or hypertension. In contrast, most of her patients in Africa were young and without risk factors, and presented suddenly with aggressive kidney disease. Dr. Raji, who was pursuing his Nephrology residency in Nigeria, found the same pattern of aggressive kidney disease among the sub-Saharan African population. They both hoped hat genetic research could help unlock the clues to this mystery.

Dr. Osafo and Dr. Raji arrived in Ann Arbor eager to soak up genetic knowledge, despite being out of the classroom for nearly 20 years. Over the past eighteen months, they completed the rigorous Human Genetics curriculum and learned invaluable research skills in genetics, genomics, and bioinformatics from many department labs. Dr. Osafo and Dr. Raji will earn their MS degrees at the end of Fall 2017 and will return home with more than just their diplomas. As ambassadors of genetics, they will teach and mentor the next generation of researchers and clinicians in their communities. Their efforts will have a major impact in the practices and standard of care for the patients in their hospitals, as well as the educational experiences of their trainees at their universities.

Next Generation GENE-iuses

Dr. Jake Mueller teaching the GENEius students about fruitfly genetics
Dr. Jake Mueller teaching the GENEius students about fruitfly genetics

This summer, a group of local 4th and 5th grade students made a visit to the Department of Human Genetics to meet scientists and get hands-on experience with genetics. Their visit was coordinated by Dr. Diane Robins and Dr. Cristen Willer.

The students were preparing to compete in the GENE-ius Science Olympiad event, where they would use their new-found knowledge of heredity, genes, DNA, and chromosomes to complete tasks like drawing pedigrees, analyzing Punnett squares, and reading codons. They spent the afternoon visiting three Human Genetics labs, participating in several fun genetics activities. In Dr. Willer’s lab, students extracted DNA from strawberries and got a primer in basic computer programming. Their next stop was the lab of Dr. Jacob Mueller, where they were introduced to fruit fly mutants. Students examined and classified the flies based on phenotype (stumpy wing vs normal wing, male vs female). They even received a souvenir vial of flies to take home with them!

To conclude their visit, they dropped by Dr. Sue Hammoud’s lab, where they viewed fluorescent mouse embryos under a microscope and discussed meiosis and fertilization with the help of some edible chromosomes made from licorice. Parents accompanying the group were impressed by how quickly the students engaged with each experiment and the enthusiasm with which the students asked questions like “how do you know?” When quizzed by graduate students on genetic concepts and facts (like the length of the human genome), they were quick to respond and difficult to stump. We hope the opportunity to visit our research labs and talk to genetics students and faculty will encourage the students to be curious about the world around them and continue science-related activities throughout their education. Perhaps they will ultimately pursue careers in STEM fields like Human Genetics!