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International Centre for Genomic Medicine in Neuromuscular Diseases

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Zambia

University Teaching Hospital, University of Zambia School of Medicine and University of Rochester School of Medicine
University Teaching Hospital Lusaka

 

Centre Principal Investigators:

 

Dr David Bearden

David R. Bearden MD MSCE

 

 

 

 

 

Dr Michelle Kvalsund

 

Dr Michelle Kvalsund DO MS

 

 

 

 

 

Dr Somwe Wa Somwe

Dr Somwe Wa Somwe, Honorary paediatric consultant at Children's Hospital, University Teaching Hospitals, Lusaka, Zambia, and Research consultant at UTHNRO

 

 

 

 

Dr Sylvia Mwanza-Kabaghe, Research Psychologist

Gretchen L. Birbeck MD MPH

Robert C Griggs, MD FAAN

 

Dr Michelle Kvalsund and Lusaka Team

ICGNMD Physiotherapy PhD Fellow:

Musambo Kapapa

Clinical neuromuscular expertise, patients and geographical region

Dr. Michelle Kvalsund is the director of the UTH EMG clinic, and is a US-trained neurologist with expertise in neurophysiology and neuromuscular disease, with an emphasis on peripheral neuropathies. UTH is a tertiary referral center, and patients with neuromuscular disease are referred from across the country.  The neuromuscular clinic currently follows approximately 300 patients with neuromuscular disease.

Genetics and preclinical science expertise and facilities

The Neurology Research Office at the University Teaching Hospital of Zambia was established by Dr. Birbeck and has been continuously funded for more than 15 years.  Genetic research programs have predominantly focused on pathogen genetics and genetics of host response, with additional research expertise in neuroimmunology, neuroepidemiology, and clinical trial design. Dr Mwanza-Kabaghe is a reseach psychologist who brings expertise in genetic counselling and ethical issues in research to the ICGNMD Zambian team.

Current research programmes

Dr. Bearden is the principal investigator of the HIV-associated Neurocognitive Disorders in Zambia (HANDZ) study, as well as the international KCNT1 registry.  Dr. Birbeck is the principal investigator of the Cohort of HIV-associated Seizures (CHASE2) study, as well as the Fever Control for Severe Malaria Study.  Dr. Kvalsund is the principal investigator of the Research on Assessment of Vitamins and Evaluation of Neuropathy (RAVENS)

Top five publications from the past five years

Kvalsund MP, Mukomena P, Chidumayo T, Birbeck GL, Andary M, Horner M, Herrmann D. Electrodiagnostic Consultations in Zambia: Referral Characteristics and Neuromuscular Disorder Diagnosis. J Neurol Sci 2018;397:150-154. Kvalsund MP, Chidumayo T, Hamel J, Herrmann D, Heimburger DC, Peltier A, Birbeck GL. Factors associated with distal symmetric polyneuropathies in adult Zambians: a cross-sectional, observational study of the role of HIV, non-antiretroviral medication exposures, and nutrition. J Neurol Sci 2018 May(388):61-69.

Birbeck GL, Meyer AC, Ogunniyi A. Nervous system disorders across the life course in resource-limited settings. Nature. 2015 Nov 19;527(7578):S167-71. PubMed PMID: 26580323.

Siddiqi OK, Elafros MA, Bositis CM, Koralnik IJ, Theodore WH, Okulicz JF, Kalungwana L, Potchen MJ, Sikazwe I, Birbeck GL. New-onset seizure in HIV-infected adult Zambians: A search for causes and consequences. Neurology. 2017 Jan 31;88(5):477-482. PubMed PMID: 28003499; PubMed Central PMCID: PMC5278945.

Bearden D, Strong A, Ehnot J, DiGiovine M, Dlugos D, Goldberg EM.  Targeted Treatment of Migrating Partial Seizures of Infancy with Quinidine.  Annals of Neurology 2014 Jul 16. doi: 10.1002/ana.24229.

How the new international centre will benefit our research and clinical programmes

Despite a large population of patients with neuromuscular disease, genetic testing is not currently available in Zambia, and patients with neuromuscular disease represent a particularly underserved population.  As part of this study, we look forward to building capacity in Zambia for the diagnosis, evaluation, and treatment of patients with neuromuscular disorders.