Research Assistant/Associate - Mitochondrial and Neuromuscular Diseases

Updated: 3 days ago
Location: Newcastle, WALES
Deadline: 24 Jun 2024

Salary:

Research Assistant: £31,396 to £32,982 per annum

Research Associate: £33,966 to £44,263 per annum

Newcastle University is a great place to work, with excellent benefits . We have a generous holiday package; plus the opportunity to buy more, great pension schemes and a number of health and wellbeing initiatives to support you.

Closing Date: 24 June 2024

The Role

We are seeking an enthusiastic and motivated scientist who is passionate about the application of cutting-edge sequencing technologies to investigate the genetic basis of childhood mitochondrial disease and congenital disorders of macroautophagy. Mitochondrial disease represents a group of inborn errors of metabolism and there is no cure; affected children often have poor prognosis and limited treatment options.  

Given the extensive clinical and genetic heterogeneity – and organ with energy demands can be affected and it can be inherited in either a recessive, dominant, matrilineal or de novo manner - and with a candidate gene pool of over 1100 genes, identifying the genetic basis is challenging but knowledge of the causative genetic variant is hugely valuable to a patient and their family. It may affect clinical management, but is vital to facilitates access to genetic counselling and the opportunity for parents to have clinically-unaffected children in future.

You will be working in the Mitochondrial Research Group under the supervision of Dr Charlotte Alston and Professor Rob Taylor and will be investigating the genetic basis of paediatric mitochondrial disease and disorders of autophagy. Both Dr Alston and Professor Taylor are Principal Investigators within the Mitochondrial Research Group but also hold substantive posts within the NHS Highly Specialised Service for Rare Mitochondrial Disorders and the North-East and Yorkshire Genomics Laboratory Hub (NE&Y GLH). You will take a lead role in the analysis of genomic sequencing data from clinically-affected children and their unaffected parents, to help establish the genetic basis of their rare disease presentation.

You will be interested in identifying the cause of mitochondrial disease and understanding the mechanisms through which these pathogenic variants cause pathology. You will be positioned at the translational interface between research and diagnostic teams which will allow you – together with your supervisor – to translate this new knowledge into clinically-actionable results whilst improving our fundamental understanding of the underlying disease mechanisms and basic mitochondrial biology.

You will have a very strong background in disorders of macroautophagy and wider human genetics with experience in the functional validation of potential disease-causing variants using molecular biology techniques including CRISPR/Cas9 gene editing, assessment of autophagic flux, high-resolution cell imaging, SDS-PAGE and western blotting, cDNA analysis and mammalian cell culture. You should have excellent communication skills and be able to work independently and as part of a supportive multidisciplinary team.

The group has a strong commitment to both personal and professional development, and you will be supported and encouraged to develop your own ideas within the scope of the group’s interests. We encourage anyone who is enthusiastic and who meets the ‘Essential Skills’ detailed below to apply.

Newcastle University is committed to being a fully inclusive Global University which actively recruits, supports and retains staff from all sectors of society. We value diversity as well as celebrate, support and thrive on the contributions of all our employees and the community they represent. We are proud to be an equal opportunities employer and encourage applications from everybody, regardless of race, sex, ethnicity, religion, nationality, sexual orientation, age, disability, gender identity, marital status/civil partnership, pregnancy and maternity, as well as being open to flexible working practices. The University holds a silver Athena SWAN award in recognition of our good employment practices for promoting equality and the University is a member of the Stonewall Diversity Champions programme. The University also holds the HR Excellence in Research award for our work to support the career development of our researchers.

The post is available on a full time, fixed term basis until 31st March 2025.

Please note that if you are successful to this role, you will require medical clearance before you can commence in the role.

For informal enquiries regarding the role, please contact Dr Charlotte Alston  or Professor Rob Taylor

Find out more about the Faculty of Medical Sciences here:

https://www.ncl.ac.uk/medical-sciences/

Wellcome Centre for Mitochondrial Research

Find out more about our Research Institutes here:
https://www.ncl.ac.uk/medical-sciences/research/institutes/

As part of our commitment to career development for research colleagues, the University has developed 3 levels of research role profiles .  These profiles set out firstly the generic competences and responsibilities expected of role holders at each level and secondly the general qualifications and experiences needed for entry at a particular level.

Key Accountabilities

•    You will carry out meticulous recording, storage and archiving of data, and perform appropriate data analyses to produce robust and reproducible data (bioinformatic support is available in house)
•    Design, plan and undertake experiments in collaboration with Principal Investigator
•    Collation, collection, presentation and discussion of results with academic and clinical staff and other members of the NHS diagnostic laboratory
•    You will use CRISPR/Cas editing of U2OS cells to knock in specific genetic variants to functionally validate their impact using a variety of molecular biology techniques including Blue-Native PAGE and SDS-PAGE to assess cells deficient in mitochondrial function and/or autophagic function
•    You will collect and analyse data and present your results at group and institute research seminars and meetings
•    Contribute to laboratory meetings e.g. problem solving, internal seminars, research in progress meetings
•    You will contribute to the preparation of scientific manuscripts for publication
•    You will assist in supervision of technical staff and undergraduate and postgraduate students in the laboratory
•    Provide guidance, where necessary, to other staff and students including possible supervision of PhD and undergraduate project students as agreed with your supervisor
•    Ensure compliance with appropriate safety and quality program requirements; you will perform risk assessments and maintain safety laboratory records (e.g. COSHH) in consultation with academic staff; responsible for the safe disposal and storage of hazardous waste in accordance with local rules and legal requirements
•    Overseeing the maintenance of safety rules, including assessment of risks, using relevant COSHH, BIOCOSHH, radioisotope, genetic manipulation, pathological specimen and potent carcinogen rules
•    You will organise and assist in general laboratory duties as required (e.g. purchasing, equipment maintenance)
•    Regular liaison with the Principal Investigator and team to organise and coordinate workload and research activities, using appropriate materials, facilities and equipment
•    In conjunction with others, ensure availability and maintenance of equipment and materials required for the research, including placing orders and maintaining records of stock levels

The Person

Knowledge, Skills and Experience 

•    Excellent communication, team-working and interpersonal skills
•    Experience in human disease genetics, specifically disorders of macroautophagy
•    Experience of genetic variant interpretation and prioritisation
•    Experience in general molecular biology/molecular genetics and protein biochemistry (e.g., SDS-PAGE and immunoblotting; BN-PAGE) relating to the study of autophagic function
•    Experience in molecular biology and/or genomics
•    Experience in protein modelling
•    Able to provide and present reports on research to high standard, including the drafting of research manuscripts
•    Ability to work with biological and bioinformatic databases
•    Able to collaborate effectively with others
•    Able to organise and oversee projects
•    Patient and Public Involvement and/or engagement experience
Desirable
•    Experience of DNA sequencing/mutation analysis
•    Experience in the design and application of CRISPR/cas9-based technologies
•    Experience and knowledge in use of human tissue and associated safety requirements


Attributes and Behaviour
•    Enthusiastic and takes pride in their role
•    Able to work independently as well as part of a team
•    Willingness to engage with and disseminate research to patients and the public

Desirable
•    A commitment to research as evidenced by completion of previous research projects and publications

Qualifications
•    A PhD in the research area required in mitochondrial biology/macroautophagy/human genetics for Associate level or nearing PhD completion for Assistant level
•    Excellent (1st/2:1) undergraduate degree, or equivalent international degree

Newcastle University is a global University where everyone is treated with dignity and respect.  As a University of Sanctuary, we aim to provide a welcoming place of safety for all, offering opportunities to people fleeing violence and persecution.

We are committed to being a fully inclusive university which actively recruits, supports and retains colleagues from all sectors of society.  We value diversity as well as celebrate, support and thrive on the contributions of all of our employees and the communities they represent.  We are proud to be an equal opportunities employer and encourage applications from individuals who can complement our existing teams, we believe that success is built on having teams whose backgrounds and experiences reflect the diversity of our university and student population.

At Newcastle University we hold a silver Athena Swan award in recognition of our good employment practices for the advancement of gender equality.  We also hold a Race Equality Charter Bronze award in recognition of our work towards tackling race inequality in higher education REC.  We are aDisability Confident employer and will offer an interview to disabled applicants who meet the essential criteria for the role as part of the offer and interview scheme.

In addition, we are a member of the Euraxess initiative supporting researchers in Europe. 

Requisition ID: 27321