Ensembl Outreach Project Leader
Dr. Jorge Batista da Rocha is the Ensembl Outreach Project Leader since September 2024. He has experience in bioinformatics training development and capacity building for genomics applications. He is a keen trainer, and enjoys developing training formats that bridge technical barriers and empower participants in their research. He is striving to create a world where genomics guided innovations are equitable and available to all.
Biography
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University of the Witwatersrand
Doctor of Philosophy - PhD Human/Medical Genetics
2018 - Present
Activities and Societies: Lecturer for Honours level course: Population Genomics Data Access (2019) Student Supervision: Honours (2017, 2018); MSc (2019-2020) Conferences: South African Society for Human Genetics; Cape Town, South Africa ( 2019). Keystone Symposia - Genomic Diversity for Human and Animal Health (S5); Kampala, Uganda (2018). African Society of Human Genetics; Kigali, Rwanda (2018)
Title: Characterisation of key pharmacogene variants in African populations through functional
annotation and structural bioinformatics approaches. -
University of the Witwatersrand
Master of Science in Medicine
2016 - 2018
Activities and Societies: Sydney Brenner Institute and Wits Human Genetics Community Outreach Program (SCOP): - SCOP Team Executive (2016- current) - Mobile App Development Leader (2016- current)
Title: Addressing Cancer Treatment in An African Setting: A Bioinformatics Analysis Of
Pharmacogenomically Relevant Variants. -
University of the Witwatersrand
Bachelor of Science with Honours Bioinformatics Distinction
2015 - 2015
Activities and Societies: University of the Witwatersrand Postgraduate Association: Executive Committee, Science Faculty Representative University of the Witwatersrand Molecular and Cell Biology Postgraduate Committee: Postgraduate Association Representative
Title: Confirming the role of predicted candidate genes in hypertension: a computational analysis
of parathyroid hormone precursor and type-1 angiotensin II receptor in a black South African
cohort. -
University of the Witwatersrand
Bachelor's Degree Biochemistry and Bioinformatics
2012 - 2014
Activities and Societies: Molecular and Cell Biology Undergraduate Council - Chairperson (2014-2015); Media and Communications Officer (2013-2014)
Publications
Molecular dynamics of G6PD variants from sub-Saharan Africa
Biochemistry and Biophysics Reports
2022-07 | Journal article
DOI: 10.1016/j.bbrep.2022.101236
Contributors: Jorge Batista da Rocha; Houcemeddine Othman; Scott Hazelhurst
African Genomic Medicine Portal: A Web Portal for Biomedical Applications
Journal of Personalized Medicine
2022-02-11 | Journal article
DOI: 10.3390/jpm12020265
Contributors: Houcemeddine Othman; Lyndon Zass; Jorge E. B. da Rocha; Fouzia Radouani; Chaimae Samtal; Ichrak Benamri; Judit Kumuthini; Yasmina J. Fakim; Yosr Hamdi; Nessrine Mezzi et al.
SWAAT Bioinformatics Workflow for Protein Structure-Based Annotation of ADME Gene Variants
Journal of Personalized Medicine
2022-02-11 | Journal article
DOI: 10.3390/jpm12020263
Contributors: Houcemeddine Othman; Sherlyn Jemimah; Jorge Emanuel Batista da Rocha
G6PD distribution in sub-Saharan Africa and potential risks of using chloroquine/hydroxychloroquine based treatments for COVID-19
The Pharmacogenomics Journal
2021-12 | Journal article
DOI: 10.1038/s41397-021-00242-8
Contributors: Jorge E. B. da Rocha; Houcemeddine Othman; Caroline T. Tiemessen; Gerrit Botha; Michèle Ramsay; Collen Masimirembwa; Clement Adebamowo; Ananyo Choudhury; Jean-Tristan Brandenburg; Mogomotsi Matshaba et al.
StellarPGx: A Nextflow Pipeline for Calling Star Alleles in Cytochrome P450 Genes
Clinical Pharmacology & Therapeutics
2021-09 | Journal article
DOI: 10.1002/cpt.2173
Part of ISSN: 0009-9236
Part of ISSN: 1532-6535
Single Nucleotide Polymorphism Induces Divergent Dynamic Patterns in CYP3A5: A Microsecond Scale Biomolecular Simulation of Variants Identified in Sub-Saharan African Populations
International Journal of Molecular Sciences
2021-07-21 | Journal article
DOI: 10.3390/ijms22157786
Contributors: Houcemeddine Othman; Jorge E. B. da Rocha; Scott Hazelhurst
Single nucleotide polymorphism induces divergent dynamic patterns in CYP3A5: a microsecond scale biomolecular simulation of variants identified in Sub-Saharan African populations
2021-05-17 | Other
DOI: 10.1101/2021.05.16.444330
Contributors: Houcemeddine Othman; Jorge da Rocha; Scott Hazelhurst
Renal dysfunction, rod-cone dystrophy, and sensorineural hearing loss caused by a mutation in RRM2B.
Human mutation
2020-09-09 | Journal article
DOI: 10.1002/humu.24094
PMID: 32827185
A systematic comparison of pharmacogene star allele calling bioinformatics algorithms: a focus on CYP2D6 genotyping.
NPJ genomic medicine
2020-08-03 | Journal article
DOI: 10.1038/s41525-020-0135-2
PMID: 32789024
PMC: PMC7398905
The extent and impact of variation in ADME genes in sub-Saharan African populations
2020-06-14 | Preprint
DOI: 10.1101/2020.06.14.108217
Contributors: Jorge da Rocha; Houcemeddine Othman; Gerrit Botha; Laura Cottino; David Twesigomwe; Samah Ahmed; Britt I. Drögemöller; Faisal M. Fadlelmola; Philip Machanick; Mamana Mbiyavanga et al.
G6PD variant distribution in sub-Saharan Africa and potential risks of using chloroquine/hydroxychloroquine based treatments for COVID-19
2020-06-02 | Other
DOI: 10.1101/2020.05.27.20114066
Contributors: Jorge da Rocha; Houcemeddine Othman; Caroline T. Tiemessen; Gerrit Botha; Michèle Ramsay; Collen Masimirembwa; Clement Adebamowo; Ananyo Choudhury; Jean-Tristan Brandenburg; Mogomotsi Matshaba et al.
Building Skills and Resources for Genomics, Epigenetics, and Bioinformatics Research for Africa: Report of the Joint 11th Conference of the African Society of Human Genetics and 12th H3Africa Consortium, 2018.
The American journal of tropical medicine and hygiene
2020-06-01 | Journal article
PMID: 32207403
PMC: PMC7253097
Interaction of the spike protein RBD from SARS-CoV-2 with ACE2: Similarity with SARS-CoV, hot-spot analysis and effect of the receptor polymorphism.
Biochemical and biophysical research communications
2020-05-14 | Journal article
DOI: 10.1016/j.bbrc.2020.05.028
PMID: 32410735
PMC: PMC7221370
A review of clinical pharmacogenetics Studies in African populations.
Personalized medicine
2020-03-03 | Journal article
PMID: 32125935
Teaching and Supervisions
2024/2025:
- Using the Ensembl Genome Browser - Trainer
- Ensembl REST API workshop - Trainer
