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PhD Studentship: Integrative Analysis of Whole Genomes and Transcriptomes from Multiple Cell Types in Rare Disease Patients. MRC GW4 BioMed DTP PhD Studentship 2024/25 Entry, PhD in Clinical & Biomedical Sciences

University of Exeter - HLS

Qualification Type: PhD
Location: Exeter
Funding for: UK Students
Funding amount: From £18,662 annual stipend
Hours: Full Time, Part Time
Placed On: 5th September 2023
Closes: 1st November 2023
Reference: 4861

Project title: 

Integrative analysis of whole genomes and transcriptomes from multiple cell types in rare disease patients. MRC GW4 BioMed DTP PhD studentship 2024/25 Entry, PhD in Clinical & Biomedical Sciences

The GW4 BioMed2 MRC DTP is offering up to 22 funded studentships across a range of biomedical disciplines, with a start date of October 2024.

These four-year studentships provide funding for fees and stipend at the rate set by the UK Research Councils, as well as other research training and support costs, and are available to UK and International students.

About the GW4 BioMed2 Doctoral Training Partnership

The partnership brings together the Universities of Bath, Bristol, Cardiff (lead) and Exeter to develop the next generation of biomedical researchers. Students will have access to the combined research strengths, training expertise and resources of the four research-intensive universities, with opportunities to participate in interdisciplinary and 'team science'. The DTP already has over 90 studentships over 6 cohorts in its first phase, along with 38 students over 2 cohorts in its second phase.

The 80 projects available for application, are aligned to the following themes;

Applications open on 4th September 2023 and close at 5.00pm on 1st November 2023.

Studentships will be 4 years full time. Part time study is also available.

Project Information

Research Theme: Population Health Sciences 

Summary:

The use of Whole-Genome Sequencing increased the diagnostic yield for rare diseases. However, even WGS fails to identify the genetic cause in about 50% of patients. To increase this yield, the NIHR National BioResource launched the RNA phenotyping initiative which adds RNA- seq and proteomic to WGS. The project aims to develop approaches for integrating these data to discover new causes of disease in a unique cohort of a thousand rare disease patients.

Description:

The use of Whole-Genome Sequencing has dramatically increased the diagnostic yield and shortened the time to diagnosis for individuals affected by rare diseases. However, WGS still fails to identify the underlying genetic cause in about 50% of patients. This is due to several factors including:

  1. lack of statistical power due to small sets of cases with different genetic aetiology,
  2. difficulty in predicting the consequences of a number of causal genetic variants, and lastly,
  3. the current technology used in WGS cannot detect certain types of causal variants.

In an effort to increase the percentage of individuals receiving a diagnosis the NIHR National BioResource for Rare Diseases launched the RNA phenotyping initiative. Here WGS is supplemented with RNA sequencing from four blood cell types and proteomic data from the same cells and plasma. This unique dataset provides an exciting opportunity to identify novel genetic aetiologies and it will enhance our understanding of human biology, improve the diagnostic yield of clinical genetic analyses, improve prognostication and inform the development of treatments.

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