Dr. Adebowale Adeyemo
Deputy Director, Center for Research on Genomics and Global Health
Associate Investigator, National Human Genome Research Institute
National Institutes of Health
Bethesda, MD, USA
Dr. Adeyemo is the Deputy Director of the Center for Research on Genomics and Global Health (CRGGH) and an Associate Investigator at the National Human Genome Research Institute, National Institutes of Health. His research interests are the genetic epidemiology of complex diseases and genomics of populations of African ancestry. His current projects include the genetic epidemiology of cardiometabolic disease and genetics of complex disease in childhood. Dr. Adeyemo qualified in medicine at the University of Ibadan in Nigeria. After completing a residency in Pediatrics and Genetics, he became a faculty member of the College of Medicine, University of Ibadan, Nigeria and a Consultant Pediatrician/Geneticist at the University College Hospital, Ibadan, Nigeria. He subsequently held training fellowships in genetic epidemiology and medical education. He moved to the National Human Genome Center at Howard University, Washington DC in 2003 from where he moved to the NIH in 2008. Dr. Adeyemo has published widely in genetics and genetic epidemiology. He is currently co-chair of the H3Africa Genome Analysis Working Group and serves on several scientific advisory boards. He is a co-creator of the NHGRI electronic atlas of human malformation syndromes in diverse populations. Further information about Dr. Adeyemo can be found at https://www.genome.gov/27567589/adeyemo-scientific-summary/ and on his ORCID profile: http://orcid.org/0000-0002-3105-3231
Title of the talk: Recent advances in the genetics of nephrotic syndrome in childhood
Adebowale A. Adeyemo, MD.
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
Nephrotic syndrome (NS) is the most common glomerular disorder of childhood and is characterized by massive proteinuria, hypoalbuminemia, edema and hyperlipidemia. Based on the initial response to corticosteroid therapy, it can be classified into steroid-sensitive (SSNS) and steroid-resistant (SRNS) forms, of which SSNS accounts for about 80% of cases in childhood. While several genetic risk factors for SRNS in children have been identified (especially in younger patients), little was known about risk loci for SSNS until recently. This talk will discuss exciting new advances in our knowledge of the genetics of NS in children. These advances include the discovery, replication and refinement of the first major risk locus (HLA-DQA1) for SSNS in childhood as well as new findings on the role of HLA-DQA1 and APOL1 variants in NS. These findings highlight a major role for immune dysregulation in the etiology of SSNS in contrast to the considerably more complex etiopathogenesis of SRNS. Recommendations for genetic testing of children with NS will be discussed.