MRC funded PhD studentship available - Tackling Rare Neuromuscular Diseases

Apply for an MRC DTP fully-funded PhD.

The project “Tackling rare neuromuscular diseases” will make use of whole exome, genome and SNP data from a large cohort of patients with neuromuscular disease to learn more about the molecular cause in undiagnosed patients, and provide further knowledge of the underlying functional mechanisms using the zebrafish as a model organism.

The deadline for applications is Wednesday 1 January 2020. We can only accept applications from those with UK/EU nationality.

Please note there is a Proposal Writing component to the application, and therefore it is recommended that you contact the supervisors as soon as possible for advice before submitting.

project summary

Limb-girdle muscular dystrophies (LGMD's) comprise 30% of all progressive muscular dystrophies, collectively affecting up to 500,000 individuals worldwide. Unfortunately, no definitive treatments for LGMD exist.

A significant obstacle in the development of treatments for LGMD is the lack of a genetic diagnosis in up to 50% of patients, coupled with incomplete knowledge of the underlying disease mechanisms. However, we and others have demonstrated that recent advances in gene sequencing can successfully be used to identify novel neuromuscular disease genes, and that model organisms can be used to validate the role of these genes in muscle development and disease.

This project will use state of the art genetic techniques to identify the molecular cause in undiagnosed LGMD patients and provide further knowledge of the underlying mechanisms using the zebrafish as a model organism.

The project will equip the student with a range of versatile skills including analysis of genetic data, bioinformatics, and in vivo disease modelling.

Applicants must have obtained, or be about to obtain, an MSc/MRes or BSc (2i or above) in biology, molecular biology, genetics, statistical genetics, bioinformatics, or a related field in a science discipline. Prior experience in basic laboratory skills is essential. Applicants should have an interest in bioinformatics, be able to communicate data and ideas effectively, and be willing to travel internationally to attend meetings with collaborators.

Who we are and what we are looking for:

We believe in a multi-disciplinary approach to science where each team member plays an important role in moving towards our goal of identifying the genetic cause of rare diseases and ultimately understanding the underlying mechanisms.

We are looking for individuals who are creative and independent thinkers with a passion for research, who have plenty of self-motivation, and the ability to work well within a team.

Reading lots of papers within your field and more widely is an important skill which will also allow you to be more creative in your thinking. Your PhD is not only about getting your research project and thesis done, but also an important training period, our Institute has an allocated travel budget for conferences, and the MRC LID program also includes funds towards workshops and training.

The high collegiality among the lab members can be seen in our list of publications where you will find undergraduate students, graduate students, postdocs and PI as authors.

Our labs sit within a larger shared space where you will find helpful postdocs from other groups with expertise in different techniques. They are always willing to help and give valuable advice.

Maintaining a healthy work–life balance by finding a routine that works for you is important. We’re not a 9 to 5 lab - if you’re being productive then we’re happy. However, everyone is expected to participate in lab meetings and departmental seminars.

If you’re thinking of applying or have any questions please get in touch :-) yjamshid@sgul.ac.uk

why Study at St George’s

St George’s, University of London is the United Kingdom’s only university dedicated to medical and health sciences education, training and research. We are based in Tooting, south west London, and share a site with St George's Hospital. St. George’s Hospital Medical School was established in 1733 and alumni include pioneers in medicine, John Hunter (founder of modern surgery), Edward Jenner (founder of smallpox vaccine), Henry Gray (wrote Grays anatomy) and Patrick Steptoe (pioneered fertility treatment and IVF). It is currently home to over 5,500 students and over 800 members of staff.

Our Genetics Research Centre is part of a larger Molecular and Clinical Sciences Institute within St George’s. Our research is highly collaborative between the University and St George’s Hospital Trust and further afield nationally and internationally.

We have excellent infrastructure and facilities at St George’s which include a core Image Resource Facility (IRF), a Nikon Centre of Excellence, providing access for researchers to bioimaging techniques that include Transmission Electron Microscopy (TEM), Confocal and Light Sheet Microscopy, and sample embedding and Histological techniques.

Rare Disease Day 28th February

To mark Rare Disease Day (28th February) our genetics research centre organised an event in the university/hospital foyer to raise awareness of the difficulties #raredisease families face and to share some of the work we do.

Rare diseases are defined as those affecting fewer than 1 in 2000 individuals, but whilst a single rare disease may affect only a handful of patients, collectively as many as 30 million people in the EU alone could be affected. Importantly for many of these diseases, 80% of which have genetic origins, there is very little knowledge of the underlying causes and even fewer effective treatments. Members of our research centre work on a variety of rare diseases, trying to improve diagnosis by identifying #genes causing them, and developing therapies based on this information.

This was the first time we organised an event for Rare Disease Day, and so we were unsure of how well it would be received and whether or not we would get anyone stopping by. But we needn’t have worried as we had almost 200 people pass through on the day. We also had a great response on social media where we were posting short bios of our research centre members and their work throughout the day. 

 We were able to reach out to the general public and explain rare diseases to them, as well as students and staff from across the hospital and medical school. Many people were unaware of the research we undertake in the Genetics Centre and it was a pleasure to be able to share some of our latest discoveries and vital work. It was also a great way to interact with people and understand the public perception on rare diseases. Most people were really surprised to hear that although rare diseases are individually rare, collectively they are quite common. 

We all enjoyed taking part in the day, We’re looking forward to making next years event even bigger and better.