About me
I’m a Clinical Genetics registrar in the West Midlands. Originally from London, I graduated with an MBChB (hons) from the University of Birmingham in 2012. I trained in Paediatrics in the West Midlands from 2014 to 2019, and I am a Member of the Royal College of Paediatrics and Child Health. I was lucky to gain experience in a range of different subspecialties. I developed an interest in Clinical Genetics and completed a part time PGCert in Genomic Medicine at the University of Birmingham. I also have an interest in teaching, and in 2019-2020 I worked as a Teaching Fellow at University Hospital Coventry and Warwickshire and Warwick Medical school and obtained a PGCert in Medical Education. I started training in Clinical Genetics in 2020. The work is varied, and I enjoy the combination of detailed molecular science and science communication. I enjoy working with a range of different specialistsmto deliver high quality care to patients and families.
North West GMSA Research Fellow (Feb 2023-2024)
I was very grateful for the opportunity to join the North West GMSA and MRCC teams as a Research Fellow in February 2023.
Clinical trial Sub-investigator
I was a Sub-investigator (Sub-I) for some of the interventional genomic clinical trials. Trails such as the AGS-RTI trial, an open label trial investigating the effect of antiretrovirals in Aicardi-Goutières syndrome (AGS) and the RECONNECT trial, a double-blinded randomised control trial investigating if cannabidiol gel (CBD) influences behavioural issues in patients with Fragile X syndrome. This involved performing study-related activities such as consenting patients and conducting patient visits.
It was very encouraging to see the increase in potential new treatments for very rare genetic diseases, and I enjoyed getting to know the families involved. The experience demonstrated the benefits of interdisciplinary working. For example, the AGS-RTI team included senior specialists in Clinical Genetics, Paediatric Neurology and Infectious Diseases.
MAGIC study
I was pleased to join an experienced research group working on genomics and rare disease discovery, under the supervision of Professor Siddharth Banka. I was a Sub-I for the MAGIC study which involved reanalysing the genomic data of patients who had participated in the 100,000 genomes project and yet had not received a diagnosis. I reviewed some of these patients in a Rare Diseases clinic to discuss the implications of our findings. We collaborated with clinical and laboratory partners to further characterise these novel disorders. This work is currently ongoing.
Genomics Research group and Rare Disease Network of Excellence
As part of my role, I attended and participated in regular meetings with colleagues working on related genomics research projects. It was inspiring and beneficial to share knowledge and ideas and gain feedback in this way. I was also part of the team which aimed to develop a formal referral pathway for reanalysis of genomic data. We believe that formal and targeted reanalysis of patient data will be an important service offered to patients by Clinical Genetics in the future.
MRCC seminars and conferences
I was grateful to participate and attend regular MRCC journal clubs and seminars. I presented at and assisted with the 2023 Manchester Dysmorphology Conference. (https://www.mrcc.org.uk/news-events/manchester-dysmorphology-conference-2023/). I also attended the 2023 European Society of Human Genetics (ESHG) conference in Glasgow, where many excellent projects from MRCC were presented. I presented my work on Fetal Genomics. I felt very welcomed and valued by my new colleagues and I hope to continue growing these links between Birmingham and Manchester in the future.
My work now
I resumed my West Midlands Clinical Genetics training job in February 2024. However, I am continuing my reanalysis work with the MRCC including the work on potential novel genes. I have also started work on a similar project reanalysing fetal exome genomic data. I hope to continue this work in the future, build more links between our departments, and hopefully pursue a PhD.