プロフィール詳細

プロジェクトを作成

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Dr. Soragia Athina G.に依頼

United Kingdom

Molecular Geneticist | NGS, Bioinformatics, ddPCR, R analysis, gene therapy, PCR, HSCT, T cells, VDJ

プロフィール概要

I am a geneticist working on several research studies at UCL in collaboration with Great Ormond Street Hospital. My expertise is on Next Generation Sequencing techniques and data analysis, including identification of novel mutations, haplotype characterisation, indels and many more. Projects I am working on or involved in via my PhD students include TCR Sequencing and VDJ analysis on HSCT/thymus transplants/HIV clinical trials and COVID-19 as well as CRISPR editors NGS and analysis, NGS/ddPCR for mutations, indels, inversions, translocations in paediatric leukaemias.

専門分野

• ★ Genetics
• ★ Bioinformatics
• ☆ Neuroscience
• ☆ Immunogenetics
• ☆ Gene Therapy

サービス

• Writing
• Research
• Consulting
• Data & AI
• Product Development

Writing Clinical Trial Documentation, Technical Writing, Newswriting

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

Consulting Scientific and Technical Consulting

Data & AI Statistical Analysis, Data Visualization

Product Development Formulation

職務経験

Molecular Geneticist & Bioinformatician | Research Fellow

UCL

11月 2017 - 現在

学歴

PhD Neurogenetics

King's College London (KCL)

1月 2012 - 9月 2015

認定資格

• 認定資格の詳細は未入力です。

出版物

OTHER

Soragia Athina Gkazi, Christos Georgiadis, Jane Rasaiyaah, Roland Preece, Aniekan Etuk, Abraham Christi, Waseem Qasim(2020). Base-edited {CAR} T Cells for combinational therapy against T cell malignancies . Cold Spring Harbor Laboratory

JOURNAL ARTICLE

(2020). 'Mini' U6 Pol III promoter exhibits nucleosome redundancy and supports multiplexed coupling of CRISPR/Cas9 effects . Gene therapy.

Soragia Athina Gkazi, Waseem Qasim(2019). Quantifying {CRISPR} off-target effects . Emerging Topics in Life Sciences. 3. (3). Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString 327--334. Portland Press Ltd.

Soragia Athina Gkazi, Claire Troakes, Simon Topp, Jack W. Miller, Caroline A. Vance, Jemeen Sreedharan, Ammar Al-Chalabi, Janine Kirby, Pamela J. Shaw, Safa Al-Sarraj, et al.(2019). Striking phenotypic variation in a family with the P506S {UBQLN}2 mutation including amyotrophic lateral sclerosis, spastic paraplegia, and frontotemporal dementia . Neurobiology of Aging. 73. Microsoft.AspNetCore.Mvc.Localization.LocalizedHtmlString 229.e5--229.e9. Elsevier {BV}

(2018). Clinical T Cell Receptor Repertoire Deep Sequencing and Analysis: An Application to Monitor Immune Reconstitution Following Cord Blood Transplantation . Frontiers in immunology.

Martina de Majo, Simon D. Topp, Bradley N. Smith, Agnes L. Nishimura, Han-Jou Chen, Athina Soragia Gkazi, Jack Miller, Chun Hao Wong, Caroline Vance, Frank Baas, et al.(2018). {ALS}-associated missense and nonsense {TBK}1 mutations can both cause loss of kinase function . Neurobiology of Aging. Elsevier {BV}

(2018). Genome-wide Analyses Identify KIF5A as a Novel ALS Gene . Neuron.

(2016). CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia . Nature communications.

(2015). The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients . Neurobiology of aging.

(2015). Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways . Science (New York, N.Y.).

(2014). Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS . Neuron.

(2014). Autosomal dominant inheritance of rapidly progressive amyotrophic lateral sclerosis due to a truncation mutation in the fused in sarcoma (FUS) gene . Amyotrophic lateral sclerosis & frontotemporal degeneration.

(2012). Screening for OPTN mutations in a cohort of British amyotrophic lateral sclerosis patients . Neurobiology of aging.