プロフィール詳細

プロジェクトを作成

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Dr. Stephen N.に依頼

South Africa

PhD candidate in the molecular genetics of rare disorders, freelance writer with experience in NGS data analysis.

プロフィール概要

I have experience in analysis of next generation sequencing data from small familial sample sizes to large cohort sample sizes, using different pathogenicity and prediction tools to try and identify the best plausible candidate variants in order to establish a genotype-phenotype correlation. I have also mastered in genetic editing, especially using CRISPR in zebrafish in a bid to recapitulate manifestations in the animal model. I already have one publication out, as part of our research group and other articles are underway where I am the primary author and also as a collaborative effort with other researchers.

専門分野

• ★ Phylogenetics
• ☆ Biochemistry
• ☆ Molecular Biology
• ☆ Genetics
• ☆ Next Generation Sequencing (NGS)
• ☆ Gene Editing/CRISPR
• ☆ Student Affairs
• ☆ Human Biology
• ☆ Technical & Scientific Writing
• ☆ Manuscript & Journal Article Writing
• ☆ SOP & Protocol Writing
• ☆ Creative Writing

サービス

• Writing
• Research

Writing Clinical Trial Documentation, Technical Writing, Newswriting

Research Fact Checking, Gray Literature Search, Systematic Literature Review, Secondary Data Collection

職務経験

Case Investigation and Contact Tracing volunteer

Western Cape Department of Health

4月 2020 - 現在

Global Health Fellow

Novartis Institutes for BioMedical Research Inc

6月 2018 - 8月 2018

Sales Representative

Highridge Pharmaceuticals

11月 2014 - 2月 2015

Research Intern

United States Army Medical Research Unit-Kenya

5月 2014 - 11月 2014

Enumerator

Kenya National Bureau of Statistics

8月 2009 - 8月 2009

学歴

PhD (Medicine)

University of Cape Town

2月 2017 - 現在

Master's (Medicine)

University of Cape Town

2月 2015 - 12月 2016

BSc (Biochemistry)

University of Nairobi

10月 2009 - 12月 2013

認定資格

• 認定資格の詳細は未入力です。

出版物

JOURNAL ARTICLE

Graham Chakafana and Timothy F. Spracklen and Stephen Kamuli and Tawanda Zininga and Addmore Shonhai and Ntobeko A. B. Ntusi and Karen Sliwa(2021). Heat Shock Proteins: Potential Modulators and Candidate Biomarkers of Peripartum Cardiomyopathy . Frontiers in Cardiovascular Medicine. 8. Frontiers Media {SA}

Timothy F. Spracklen, Paul R. Kasher, Sarah Kraus, Tarryn L. Botha, Donna J. Page, Stephen Kamuli, Zandile Booi, Ashley Chin, Nakita Laing, Bernard D. Keavney, et al.(2021). Identification of a POLG Variant in a Family With Arrhythmogenic Cardiomyopathy and Left Ventricular Fibrosis . Circulation: Genomic and Precision Medicine. 14. (1). Ovid Technologies (Wolters Kluwer Health)

(2020). Genetics of inherited cardiomyopathies in Africa . Cardiovascular Diagnosis and Therapy.