KwashNet

Kwashiorkor Collaboration Network

International investigation into outcomes of SAM in children

Approximately two million children worldwide under the age of five become severely malnourished (SAM) every year. An estimated 20-30% of whom do not survive. Classically, severe acute malnutrition can be classified as either marasmus or the systemically deleterious kwashiorkor. Despite decades of study, the reason some children develop kwashiorkor and others marasmus remains unclear, there are no reproducible differences in environment, infection status, or diet. KwashNet is pioneering the first human genetic studies designed to identify genetic loci that underlie the well-characterized inter-individual differences in the risk of developing kwashiorkor vs. marasmus. Identifying and validating these loci can provide putative therapeutic insights and shed light upon other disorders of nutritional stress, including overnutrition, cancer, and chronic illness.

Our global collaborative network (“KwashNet”) currently includes researchers from eight sites across seven countries in Africa.

Iganga-Mayuge Health and Demographic Surveillance Site
Iganga and Mayuge Districts, Uganda/Kampala, Uganda

Mulago National Referral Hospital
Kampala, Uganda

University of Kinshasa Centre for Human Genetics
Kinshasa, Democratic Republic of Congo

Botswana-Baylor Children’s Clinical Centre of Excellence
Gaborone, Botswana

Haydom Lutheran Hospital
Haydom, Tanzania

Tropical Gastroenterology and Nutrition Group
Lusaka, Zambia

Zvitambo Institute for Maternal and Child Health Research
Harare, Zimbabwe

KEMRI-Wellcome Trust Research Programme
Kilifi, Kenya

Current Studies

Community engagement/enroll 8,000 children with kwashiorkor and marasmus

Current studies include a genome-wide association study of ~8,000 individuals. Each site will collect DNA samples and phenotype data using retrospective medical chart review or information available at time of treatment. Additional phenotypic data will be collected from prospectively enrolled participants at time of discharge and at 1-3 months after treatment. Information will be entered into an electronic data management system (PocketLIMS) optimized for data collection in both rural and urban settings. DNA will be sent for sequencing and genotyping, prior to collaborative analyses downstream. Each site will engage with local community advisory boards (CABs) to develop best practices for enrolling, engaging, and disseminating information to their communities in an ethical and culturally appropriate fashion.

Annual Meetings

KwashNet meets in-person annually to develop guidelines, data collection tools, and network-wide standards as a group. Attendees at these meetings include gastroenterologists, immunologists, pediatricians, nurses, laboratory scientists, post-doctoral fellows, PhD students, genetic counselors, and bioethicists. Our inaugural meeting was in Gaborone, Botswana in 2023 and was hosted by Dr. Matshaba. This meeting served as the first time that representatives from each KwashNet site were together, allowing for collaboration, networking, and early study development. Our second meeting was in Entebbe, Uganda in 2024 and was hosted by Dr. Babirekere. At this meeting we built on the progress generated from our Botswana meeting in anticipation of pending participant enrollment and sample collection, including finalizing study recruitment and sample collection standards, beta testing of PocketLIMS, and engagement with local community advisory boards. Our next meeting is planned for Zambia in 2025.

Contacts

National Human Genome Research Institute

Neil A. Hanchard, M.B.B.S., D.Phil.

Clinical Geneticist and Pediatrician
Senior Investigator, Childhood Complex Disease Genomics Section, Center for Precision Health Research, NHGRI

Emilyn Banfield, Ph.D., M.P.H., M.S., C.G.C.

Geneticist (Counselor)
Childhood Complex Disease Genomics Section, Center for Precision Health Research, NHGRI

Consultant Investigators

Thaddeus May, M.D.

Assistant Professor and Consultant Gastroenterologist
Section of Gastroenterology, Hepatology, and Nutrition, Department of Medicine, Baylor College of Medicine, USA