Research output per year
Research output per year
Prof, MBBS, MRCPCH, CCT (Clinical Genetics), PhD
Rare diseases pose a significant medical and societal challenge because they affect ~5% of the population. A vast majority of rare diseases are genetic in origin. Rare Diseases are often difficult to define, diagnose, manage and treat.
I am a Clinician Scientist who combines genomics with functional and clinical studies in rare human genetic disorders. My current research programs have following themes - (1) performing systematic analysis of whole genome data to discover novel diseases; (2) understanding the mechanisms of paediatric disorders of chromatin remodelling and inborn errors of metabolism to develop new treatments; (3) understanding the contribution of copy number and non-coding variants in Mendelian disorders; and (4) establishing cohorts of paitents with rare disorders for natural history studies and clinical trials.
I hold a joint position at the Manchester Centre for Genomic Medicine (Manchester University NHS Trust) as a Consultant Clinical Geneticist. In my clinical prcatice I see children and adults with a range of genetic disorders.
I am the Founding Clinical Director of the Manchester Rare Conditions Centre.
Overall, the aim of my work is to improve diagnosis, management and treatment of rare diseases.
I graduated in Medicine (MBBS) from Lokmanya Tilak Medical College (University of Mumbai) in 2002, obtained Membership of Royal College of Paediatrics and Child Health (MRCPCH) in 2006 and joined Clinical Genetics training programme in Manchester in 2007. I was awarded a Research Training Fellowship by the NIHR Manchester Biomedical Research Centre from 2008 to 2011 and was awarded PhD by the University of Manchester in 2012. I obtained my Certificate of Completion of Specialist Training (CCST) in Clinical Genetics training in 2013 and was subsequently appointed as Clinical Senior Lecturer and Consultant Clinical Geneticist in July 2013. I have been in my current position from 2021.
Rare genetic conditions collectively affect approximately 5% of the population. More than 50% patients with suspected genetic disorders remain unsolved even after whole genome sequencing. Furthermore, for disorders with known genetic causes, the management and treatment options are usually limited.
Identification of novel diseases
We have led on, or played a major role in, the identification of several rare genetic diseases and uncovered their mechanisms –
We have also contributed to collaborative projects leading to the discoveries of following diseases -
Current work: We are performing systematic analysis of whole genome/exome data from several thousand patients with unsolved genetic disorders. This work is being done in collaboration with large national and international projects such as the 100,000 Genomes Project, Solve-RD, the Deciphering Developmental Disorders study and the Genomics of Developmental Disorders in India project. We are specially interested in disorders caused by variants in genes encoding components of the chromatin machinary and in identification of disease-causing cryptic and non-coding variants.
Uncovering rare-diseases mechanisms
In collaboration with several research groups, locally and internationally, we have used cellular and organismal models to understand mechanisms of several diseases that has provided insights into fundamental biological processes (e.g. nuclear role of beta-actin and the role of POU3F2 in the neuroendocrine pathway for appetite); showed the diversity of disease causing genetic mechanisms (e.g. extreme phenotypic variability in RAC1-associated intellectual disability) and highlighted link of rare disease genes with commoner conditions (e.g. Leri’s pleonosteosis and systemic sclerosis); and led to development of treatments for some rare disorders (e.g. folinic acid treatment for DHFR deficiency).
Current work: We are using induced pluripotent stem cells (iPSCs) to study the basis of neuroloical disease (differentiating into cortical neurons) and malformations (differentiating into neural crest cells) in diseases caused by KMT2D mutations (with Prof Sue Kimber); Drosophila models to study the mechanism of RAC-related disorder (with Dr Tom Millard); zebrafish models to study EIF5A, FKBP4 and RLF-related disorders (with Dr Paul Kasher); mice models to study ACTB-related disordes (with Prof Adrian Woolf).
Clinical and molecular spectrum characterisation and guidelines development
Knowing phenotypic spectrum of rare conditions is crucial for their diagnosis and management. We have led on, or played a major role in, clinical characterisation of the following diseases -
We have also contributed to clinical characterisation of -
Current work: We are working on delineating phenotypic spectrum of several recently discovered chromatin remodelling disorders. This includes a national project on chromatin disorders as part of the NIHR BioResource for Rare Diseases. We are developing an international Expert-consensus management guidelines for Kabuki syndrome type 1. We are also a centre for a commercial clinical trial for Rett syndrome.
Functional Genomics and Advanced Diagnostics
In collaboration with EpiSigns, we have established DNA methylation arrays as a diagnotic service for rare diseases (EpiPro Project). We have also used this approach for disease identification and characterisation in research. See examples of our own and collaborative works - PMID 35904121, 35506254, 35047860, 34750377, and 31949313.
Clinical Trials
We have run clinical trials for rare diseases. See examples -
Manchester Rare Conditions Centre
The Manchester Rare Conditions Centre (MRCC) aims to improve the lives of individuals with rare diseases by providing a platform for the coordination of clinical care, research, education and engagement. See details here - MRCC website
Postgraduate University Courses
Undergraduate University Courses
Specialist International Courses
Post-doctoral Research Associates
Current PhD (or equivalent) students (Primary supervisor)
Current PhD (or equivalent) students (Co-supervisor)
Past PhD (or equivalent) students
Collaborators
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
Research output: Contribution to journal › Article › peer-review
Research output: Contribution to journal › Article › peer-review
Research output: Contribution to journal › Article › peer-review
Research output: Contribution to journal › Article › peer-review
Research output: Contribution to journal › Article › peer-review
Bruce, I., Lord, G., Lennon, R., Black, G., Wedge, D., Morris, A., Hussell, T., Sharrocks, A., Stivaros, S., Buch, M., Gough, J., Kostarelos, K., Thistlethwaite, F., Kadler, K., Barton, A., Hyrich, K., Mcbeth, J., O'Neill, T., Vestbo, J., Simpson, A., Singh, S., Smith, J., Felton, T., Murray, C., Griffiths, C., Cullum, N., Rhodes, L., Warren, R., Paus, R., Dumville, J., Viros Usandizaga, A., Keavney, B., Tomaszewski, M., Allan, S., Body, R., Cartwright, E., Heagerty, A., Kalra, P., Miller, C., Rutter, M., Smith, C., Trafford, A., Evans, D., Crosbie, E., Crosbie, P., Harvie, M., Howell, S., Renehan, A., Dive, C., Blackhall, F., Landers, D., Krebs, M., Cook, N., Clarke, R., Taylor, S., Jorgensen, C., Lorigan, P., Jayson, G., Valle, J., Mccabe, M., Armstrong, A., Freitas, A., Illidge, T., Choudhury, A., Hoskin, P., West, C., Van Herk, M., Faivre-Finn, C., Bristow, R., Kirkby, K., Birtle, A., Mackay, R., Radford, J., Linton, K., Higham, C., Munro, K., Plack, C., Arden Armitage, C., Bruce, I., Moore, D., Saunders, G., Stone, M., Haddock, G., Lewis, S., Elliott, R., Green, J., Lovell, K., Morrison, A., Shaw, J., Bucci, S., Ainsworth, J., Webb, R., Newman, W., Banka, S., Clayton-Smith, J., Payne, K., Moldovan, R., Wynn, R. & Jones, S.
1/12/22 → 30/11/27
Project: Research
Banka, Siddharth (Recipient), 2011
Prize: Prize (including medals and awards)
Banka, Siddharth (Recipient), Dec 2012
Prize: Prize (including medals and awards)
Banka, Siddharth (Recipient), 2011
Prize: Prize (including medals and awards)
Siddharth Banka (Invited speaker)
Activity: Talk or presentation › Invited talk
Siddharth Banka (Invited speaker)
Activity: Talk or presentation › Invited talk