The NESHIE and CP Genetics Resource
Genes and variants implicated in neonatal encephalopathy with suspected hypoxic-ischemic encephalopathy (NESHIE) and consequential cerebral palsy (CP)
When using this database for research purposes, please cite the following publication: https://doi.org/10.1016/j.ygeno.2022.110508
About
NESHIE is a syndrome occurring in neonates, characterized by altered neurological function. Genetic variants may influence NESHIE susceptibility and outcomes; however, few studies have been done to date on this topic. It has been suggested that genetic variants may influence NESHIE susceptibility and outcomes. Unlike NESHIE, for which a limited number of genetic studies have been performed, many studies have identified genetic variants associated with CP, which can develop from severe NESHIE. Identifying variants in patients with CP, as a consequence of NESHIE, may provide a starting point for the identification of genetic variants associated with NESHIE outcomes. We have constructed NCGR, a database of genes and variants reported in patients with NESHIE and CP (where relevant to NESHIE), for the purpose of collating and comparing genetic findings between the conditions.
The team behind NCGR
Prof. Michael S. Pepper
Michael Pepper is Director of the Institute for Cellular and Molecular Medicine, Director of the South African Medical Research Council Extramural Unit for Stem Cell Research and Therapy, and Research Professor in the Department of Immunology in the Faculty of Health Sciences at the University of Pretoria. He is also Professeur Associé in the Department of Genetic Medicine and Development in the Faculty of Medicine at the University of Geneva, Switzerland. Michael has more than 300 medical and scientific publications with and H-Index of 72/83 (Scopus/Google Scholar). He is a member of the Academy of Science of South Africa and has received a number of awards for his research, including the South African Health Excellence Award for Scientific Excellence in 2019.
Prof. Fourie Joubert
Fourie Joubert is the co-founder and acting Director of the Centre for Bioinformatics and Computational Biology in the Department of Biochemistry, Genetics and Microbiology at the University of Pretoria. Prof Joubert is also a founding member of the South African Society for Bioinformatics and Computational Biology and. He has contributed over 50 publications to the fields of bioinformatics, computational biology, and genetics/genomics, and has a National Research Foundation (NRF) C2 rating.
Dr. Juanita Mellet
Dr Juanita Mellet is a postdoctoral fellow at the Institute for Cellular and Molecular Medicine in the Department of Immunology in the Faculty of Health Sciences at the University of Pretoria. She has contributed 10 publications and one book chapter on the topics of stem cell research, immunology, and single cell transcriptomics, and is currently co-supervising several post-graduate students.
Megan A. Holborn
Megan Holborn is currently completing her MSc Medical Immunology degree at the University of Pretoria. Her research focuses on the association between genetic variants and NESHIE susceptibility or severity. She has a strong background in biochemistry and genetics, and has recently delved into the field of computational genomics.
Graeme R. Ford
Graeme Ford is a Full-stack web developer with qualifications in both backend and front end industry-level frameworks. A development operations manager with experience in stack planning, environmental administration and architecture planning/configuration from small scale to enterprise-scale deployments.
Sarah Turner
Sarah Turner completed her Honours in Bioinformatics cum laude in 2021. She is currently working as a junior content developer at Bidvest Bank.
Correspondence:
michael.pepper@up.ac.za