Research Assistant/Associate - Neuromuscular Genetic Disease (Latin-Seq)

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: 15 April 2024

The Role

We are looking for a researcher with clinical interests to work on projects aimed at diagnosing neuromuscular disease patients. 

The John Walton Muscular Dystrophy Research Centre (JWMDRC) has a strong interest in research, diagnosis and management of Neuromuscular Genetic Disease. We have secured funding to continue cutting edge genetic research utilising next generation sequencing technology to diagnosis patients with genetic neuromuscular diseases from a large international collaborative project in Latin-American countries (Latin-SEQ).

The post would suit a geneticist or a physician with deep knowledge of neuromuscular diseases clinical, MRI and muscle biopsy features. The candidate should have good communication skills, administration and computer skills, although training in bio-informatics support and dedicated software will be provided.  
 
As part of our commitment to career development for research staff, 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.

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

This post is tenable for 24 months.

Informal enquiries to Prof. Jordi Diaz Manera (jordi.diaz-manera@newcastle.ac.uk).

For further information please see – www.newcastle-muscle.org

Key Accountabilities

• Liaise with centres collaborating in the Latin-SEQ project for the recruitment of patients and provide SOPs for collection of standardised clinical data in the PhenoTips database. Confirm that patients meet the inclusion criteria of the project, and that deep phenotypic information and appropriate consent is provided
• Perform DNA extraction from blood (both fresh and dried spots), saliva, skin and/or muscle biopsies. Liaise with the sequencing provider (CNAG, Barcelona) for the shipment of DNA for exome sequencing
• Analyse and clinically interpret results of next generation sequencing data generated through the Latin-SEQ project.  Upkeep of the Latin-SEQ database, including patients enrolled, recruited, analysed and in waiting list, genetic and phenotypic data, results, communications with centres, MRI and muscle biopsy images 
• Preparation and collation of results for discussion and interpretation within multidisciplinary teams and referring centres in weekly meetings. Preparation of genetic reports. These meetings will be in Spanish or Portuguese
• Undertake laboratory activities such as segregation analysis and western blots to help confirm or rule out genetic diagnosis, and primary research including cell culture, RNA work and other in vitro downstream assays for the interrogation of novel candidate genes  
• Carry out experimental procedures and developing new research methods to fit the research ongoing in the team. Undertake reading and literature review in appropriate fields of molecular biology and genetic medicine and make desirable modifications to methods and/or pipelines from relevant literature review 
• Provide training, advice and practical support to junior members and project students in genetic data analysis and clinical interpretation of genetic results

The Person

Knowledge, Skills and Experience 

• Experience working with large genetic datasets
• Experience in medical genetics research  
• Demonstrable deep knowledge on the clinical, genetic, muscle MRI and muscle biopsy features of neuromuscular diseases
• Fluent communication in Spanish (written and spoken)

Desirable 

• Experience in the analysis and interpretation of NGS data for rare diseases
• Knowledge of Portuguese
• Experience with handling skeletal muscle samples and histological techniques
• Experience in the rare disease field, preferably neuromuscular conditions
• Publication in major journals and presentation of data at conferences

Attributes and Behaviour

• Advanced skills directly related to the research projects
• High level of analytical and problem-solving capability and attention to detail 
• Good time management and ability to prioritise to meet deadlines

Qualifications

• A PhD in a science subject – preferably medicine, molecular biology, or genetics is required for appointment at Research Associate level (or Master's degree for appointment at Research Assistant level if candidate is writing up PhD)

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 a Disability 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: 26917