Clinical researcher awarded fellowship to improve diagnosis of rare genetic diseases

Dr Tracy Briggs, NIHR Clinical Lecturer from the Manchester Centre for Genomic Medicine at The University of Manchester and the Central Manchester University Hospitals NHS Foundation Trust (CMFT) has been awarded an NIHR Transitional Research Fellowship.

This follows on from a 3-year award from the Wellcome Trust for her ground-breaking PhD studies. The latest fellowship will now allow Tracy to move her research focus from the laboratory to the clinic. Her aim is to improve the diagnosis and understanding of rare genetic disorders affecting the immune system, particularly type I interferonopathies.

The immune system is complex, involving many chemicals, including type I interferon which helps regulate the system’s activity. A change in one of several different genes can cause too much interferon to be produced. This can result in childhood onset diseases which lead to severe physical and/or mental disability. Whilst these conditions – known as type I interferonopathies – are individually rare, the burden of disease for families is significant. Furthermore, excessive interferon production is associated with a number of more common autoimmune disorders such as systemic lupus erythematosus and dermatomyositis – thus Tracy’s research in rare disease may have implications for a much wider patient group.

At present there is no effective treatment for any of the diseases in this group, but a number of possible treatments are on the horizon. Through her research, Dr Briggs will set out to facilitate earlier diagnosis and to improve understanding about the manifestations of these diseases. Tracy will establish both a national specialist clinic to review individuals thought to be affected, and a clinic to review individuals with a confirmed diagnosis of a type I interferonopathy.

Through these clinics, combined with communication and collaboration with clinical research colleagues in the UK and overseas, Tracy aims to enhance disease recognition and understanding, and to help identify which aspects of disease are best to monitor in future interventional clinical trials of treatment.

During her fellowship Tracy will undertake training in both clinical trials and pharmacology, both through formal training and via the excellent clinical trial infrastructure and support available at CMFT. This is key to allow Tracy to undertake interventional clinical trials in the future.

Dr Tracy Briggs, said:

Receiving the NIHR Transitional Research Fellowship is a great honour. I am really excited about undertaking focused clinics aimed at improving diagnosis and understanding in rare genetic immune disease. This clinical research combined with training in clinical trials will allow me to help deliver the highest standard of care for patients with rare disease and ensure effective treatments can be developed for those with devastating disorders

Professor Neil Hanley, Clinical Head of Research and Innovation Division at CMFT, said:

This is a fantastic achievement. Tracy is one of our up-and-coming stars. She exemplifies a bright future for clinical genetics. On the back of her award from the Wellcome Trust she made a series of major genetic breakthroughs in the interferonopathies. She is now taking this basic knowledge out of the laboratory at pace and turning it into improved care that will benefit patients across a number of clinical specialties. This is internationally-leading work and R & I is very proud of Tracy.