Lessons learned from the COVID-19 pandemic: Diagnostic delay in rare disease

Dr McKay is the CEO of Medics4RareDiseases and a founding member of ARDEnt, co-lead for Theme 1: Diagnostic Delay. Lucy’s brother had a rare disease and she grew up alongside a patient group that started life in Lucy’s family home. She studied Human Genetics at The University of Nottingham and then medicine at QMUL. At medical school, Lucy started Barts and The London Society of Rare Diseases and subsequently, Students4RareDiseases (S4RD). S4RD became Medics4RareDiseases in 2018 and a UK Registered Charity in 2019. Lucy’s role of CEO combines her unique personal experiences with her medical training in order to improve the lives of those living with rare diseases. Lucy’s other roles include Vice-Chair of the Medical Genetics Section of the Royal Society of Medicine, member of the UK Rare Diseases Framework Forum and Steering Committee. Member for Medscape’s Rare Diseases Learning Centre.

Dr Will Evans works clinically as a GP in Leeds, and as a GP with a specialist interest in Genetics with the Yorkshire regional genetic service. Will is also an academic in the PRISM research group, in the Centre for Academic Primary Care at the University of Nottingham. His research interests involve personalised medicine, rare diseases, genomics in Primary Care and large database analysis.

Will’s eldest son Sam has Niemann-Pick type C, an ultra-rare metabolic disease and Will is the current chairman of the board of trustees of NPUK the disease’s national charity.

Lara is a Clinical Geneticist doctor with a special interest in Neurogenetics and genetics research, in particular regarding the translation of research outcomes to clinical care. She has co-authored a number of publications describing new genetic conditions and phenotypes. Lara was awarded the Royal College of Pathology 2020 Trainee Research Silver Medal for her work on neurovascular abnormalities in Floating-Harbor syndrome, a rare chromatin disorder.

Lara works closely with rare disease charities such as Unique and Medics4RareDiseases to translate research findings into meaningful information for families. During the Covid19 pandemic, Lara worked on behalf of the British Society of Genomic Medicine and the UK Clinical Genetics Society to produce patient information resources about Covid19 and rare disease, a rare disease Covid19 clinician risk grid and an online patient interactive Covid19 risk assessment tool.

Lara teaches genomics regularly at Masters and postgraduate-level. She is also the national trainee representative for the UK Clinical Genetics SAC.

Prior to specialising in genetics Lara trained as a paediatric SpR in North London. She received a Distinction for her medical degree and completed a PhD in neuroimaging phenotypes at the University of Cambridge. Lara has also completed Postgraduate Certificates in Advanced Paediatrics and Genomics. Her PhD was awarded a British Neuroscience Association prize for contribution to neurosciences. She has also published widely in neuroimaging, with a number of first-author papers. Her research has been cited >5000 times.

Caitlin is a third-year medical student at Keele University. She was a graduate entrant to medicine, having previously studied Biological and Medical Sciences at the University of Liverpool. During the first lockdown in 2020, she got involved with the research for this project.