Research Associate in Muscle Diseases in Latin America

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The Role
This position is for a Research Associate on an international collaborative project - Evaluating the delivery of whole exome sequencing for patients with muscle diseases in Latin America. Learning from collaborative experiences (Latin SEQ+).

Your role will be to undertake, transcribe, translate and co-analyse online semi-structured interviews in Spanish/Portuguese with patients and families from Latin American countries who have received a genetic test result for muscle disease.

You will explore how the genetic test result has made a difference to their lives. Indicative themes to explore may be how it has changed treatment or care; what, if any, prenatal options are available; what does the result mean for other family members; how has this been communicated to them and how have they reacted to the diagnosis.

This is a unique opportunity to be involved in a project to give feedback to our Latin American partners on their emerging genetics services and to learn transferable lessons from their experience to benefit mainstream delivery of genetic testing in the UK.

The project aims to critically explore how Genetic Counselling is delivered in Latin American countries where there is limited or no Genetic Counselling resource. The study objectives are:

1. To critically explore the experiences of Health Care Professionals giving a diagnosis and patients' and families experiences of receiving a genetic diagnosis.
2. To understand how, and if, any changes are made to patients' care depending on the outcome of Whole Exome Sequencing (explanatory variant found, no variant found, variant of uncertain significance found).
3. To identify, describe and understand how genetic information is communicated within families.
4. To understand culturally specific influences on delivering and receiving diagnoses via Whole Exome Sequencing.

The study outputs will develop educational input and resource; share findings with partners to grow their genetics services and improve patient outcomes; highlight areas of good practice as measured against UK standards and share findings with Health Education England and Genomics England to inform UK service development. The project will generate new knowledge about delivering effective Genetic Counselling to improve patient outcomes in partner countries and the UK.

This post is part-time 50% FTE (18.5 hours per week), fixed-term for a period of 14 months and will require some flexibility to work in Latin America.

For informal enquiries contact: Dr Lorraine Cowley Lorraine.Cowley@newcastle.ac.uk or lcowley@nhs.net.
Find out more about the Faculty of Medical Sciences here: https://www.ncl.ac.uk/medical-sciences/.
Find out more about our Research Institutes here: https://www.ncl.ac.uk/medical-sciences/research/institutes/.

Qualifications

• A PhD in the research area required using qualitative interview method.

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