Clinical Bioinformatician - London, United Kingdom - University College London

Tom O´Connor

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Tom O´Connor

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Description

Ref Number
B


Professional Expertise
Research and Research Support


Department
School of Life & Medical Sciences (B02)


Location
London


Working Pattern
Full time


Salary
£48,614 - £57,041


Contract Type
Permanent


Working Type
Hybrid (20% - 80% on site)


Available For Secondment
No


Closing Date
25-Jun-2023


About us:


Primary mitochondrial diseases are a genetically diverse group of conditions that can be caused by variants in either mitochondrial or nuclear DNA.

The Department of Neuromuscular Diseases at UCL Queen Square Institute of Neurology (IoN) has a longstanding history of excellence in primary mitochondrial disorders research, including the first description of mutations in mitochondrial DNA causing disease published in Nature in 1988.

We are co-located with National Hospital for Neurology and Neurosurgery, which houses the London NHS Highly Specialised Service for Rare Mitochondrial Disorders.

This gives us a highly translational focus and the opportunity work with patients and to collaborate with leading NHS clinical scientists in genomics and neuro-metabolism.

Our team includes clinical, basic science and informatic researchers which cover the full remit of genomics, pathophysiology, clinical trials and drug discovery for mitochondrial disease.

We work closely with leading mitochondrial clinical and research services in Oxford and Newcastle.

Together with these groups we have secured funding from the mitochondrial disorders' charity The Lily Foundation to drive the next diagnostic uplift in mitochondrial disorders in the UK.


About the role:


The role is based within UCL IoN and Great Ormond Street Hospital (North Thames Genomic Laboratory Hub bioinformatics/ translational teams).

You will benefit from a highly supportive supervisory environment with input from the GOSH principle bioinformatician and an experienced PI in mitochondrial diseases.


You will be responsible for the effective and timely delivery of robust research data, which you will maintain in a highly organised and secure database.


You will report to Dr Robert Pitceathly and will present regularly to the steering and clinical interpretation committees for The Lily Precision Diagnostics Project and engage with charity activities.

You will also work on projects related to The Lily Foundation study in the mitochondrial team e.g., gene discovery, mouse model work.

An honorary contract will be sought from UCLH NHS Foundation Trust, for which a DBS check will be required.


The post is available immediately and is funded by The Lily Foundation for three years in the first instance with potential for further extension to the contract.

This role is eligible for hybrid working with a minimum of 40% on site. Flexible working arrangements may be considered on request.

A full job description and person specification for this role can be accessed below.


About you:


This post is for an experienced independent bioinformatician comfortable with Python scripting and Linux system administration, with strong knowledge of rare disease genetics.


What we offer:

As well as the exciting opportunities this role presents, we also offer great benefits, some of which are below:

  • 41 Days holiday (27 days annual leave 8 bank holiday and 6 closure days)
  • Additional 5 days' annual leave purchase scheme
  • Defined benefit career average revalued earnings pension scheme (CARE)
  • Cycle to work scheme and season ticket loan
  • Immigration loan
  • Relocation scheme for certain posts
  • Onsite nursery
  • Onsite gym
  • Enhanced maternity, paternity and adoption pay
  • Employee assistance programme: Staff Support Service
  • Discounted medical insurance

Our commitment to Equality, Diversity and Inclusion:
The Institute prides itself on operating in an all-inclusive environment irrespective of personal, physical, or social characteristics.

Teamwork is highly valued, individual strengths are recognised and celebrated, and we are committed to advancing the careers of everyone.

12% of Institute staff are actively working on Equality, Diversity and Inclusion (EDI) initiatives; visit our EDI website for more information about our initiatives and priorities.

The Institute also holds an Athena SWAN Silver award, in recognition of our commitment and demonstrable impact in advancing gender equality.


As London's Global University, we know diversity fosters creativity and innovation, and we want our community to represent the diversity of the world's talent.

We are committed to equality of opportunity, to being fair and inclusive, and to being a place where we all belong.


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