Essays about: "Human Germline"

Showing result 1 - 5 of 6 essays containing the words Human Germline.

  1. 1. Implementing ExomeDepth with a variant filter as a CNV-calling tool for germline clinical diagnostic testing

    University essay from Högskolan i Skövde/Institutionen för biovetenskap

    Author : Alice Krysén; [2022]
    Keywords : ;

    Abstract : Copy number variations (CNVs) cover approximately 4.9 - 9.5% of the human genome. CNVs are involved in both the development of disease and evolutionary adaptions. READ MORE

  3. 2. CRISPR AND THETREATMENT/EN DISTINCTION : On Vagueness, Borderline Cases and Germline Genome Editing

    University essay from Umeå universitet/Institutionen för idé- och samhällsstudier

    Author : Ellen Svensson; [2021]
    Keywords : CRISPR; Treatment; Enhancement; Vagueness; Borderline cases; Slippery slope; Germline genome editing; GGE; Gene editing; Distinction; Ethics; Radical Enhancement; Human Nature; Eugenics;

    Abstract : In this thesis, I argue that the treatment/enhancement distinction that is central to the ethical debate concerning germline genome editing and CRISPR is too vague to be ethically and normatively guiding. The problem of vagueness is twofold, being both a semantic and epistemic issue. READ MORE

  4. 3. Preimplantation genetic diagnosis and therapy in humans- Opportunities and risks

    University essay from Örebro universitet/Institutionen för medicinska vetenskaper

    Author : Rickard Hedberg; [2020]
    Keywords : Preimplantation genetic diagnosis; CRISPR-Cas systems; gene editing; germline; genome; ethics; autonomy; beneficence; risks.;

    Abstract : IntroductionPreimplantation Genetic Diagnosis (PGD) was developed in the 1990s and has been used since to diagnose and discard embryos with genetic conditions or chromosomal abnormalities. CRISPR-Cas9 was discovered in 2012 and has been used in research, but has not become clinical practice on humans yet. READ MORE

  5. 4. Analysis of somatic mutations in papillomavirus positive tumours from younger and older oropharyngeal cancer patients

    University essay from Högskolan i Skövde/Institutionen för biovetenskap

    Author : Andreas Ährlund-Richter; [2016]
    Keywords : ;

    Abstract : ABSTRACT Background: Human Papilloma Virus positive (HPV+) Oropharyngeal Squamous Cell Carcinoma (OSCC), dominated by tonsillar cancer (TSCC) and base of tongue cancer (BOTSCC) has low mutation-frequency and better survival for younger than older patients.Aim: To examine if HPV+ TSCC and BOTSCC have distinct gene-mutation profiles, for 50 often-mutated genes in cancer, in younger compared to older patients and to test and compare different variant callers to get a deeper understanding of the data. READ MORE

  6. 5. The Ethics of CRISPR : Using Human Germline Gene Modification to Prevent Genetic Disease

    University essay from Linköpings universitet/Centrum för tillämpad etik

    Author : Austen Yeager; [2016]
    Keywords : CRISPR; Human Germline; Gene Modification; Ethics; Genetic Disease;

    Abstract : With the discovery and development of CRISPR, the technology that might allow us to modify the human germline is at our fingertips, and, consequently, serious practical and ethical consideration is warranted. In the following paper, I examine the ethics of using CRISPR in this way and argue that modifying the human germline for the purpose of preventing serious genetic disease is, in principle, ethically acceptable and ought to be allowed. READ MORE