The genomic revolution: A practical guide to what you can’t afford not to know - Part 3

Dr Ramachandrappa has been involved in the Medical Genetics Section of the RSM for several years.  She is a clinical geneticist working at Guy's and St Thomas' NHS Foundation Trust.  She combines her clinical work with research activity within the Genes and Health Project a community based cohort study.  Her academic work focusses on characterising rare genetic variation amongst individuals of Pakistani and Bangladeshi origin.

Mina Ryten is a clinician scientist specialising in neurogenetics. She completed an MBPhD (Cambridge University & UCL) before taking up Academic Clinical Fellowships in Neurology and then Clinical Genetics. While her PhD focused on purinergic signalling in skeletal muscle development and regeneration (Professor Burnstock, UCL), following this experience she developed new skills in bioinformatics and completed an MRC Post-doctoral Training Fellowship in Biomedical Informatics. This experience shaped her research interests and led to her successful application for an MRC Clinician Scientist Fellowship. Since 2017, Mina has led her own research group at the UCL Queen Square Institute of Neurology and more recently, UCL Great Ormond Street Institute of Child Health. At the core of her group’s research is the use of the human brain transcriptome as a genome-wide functional read-out of an individual’s DNA – a read-out which can efficiently and robustly inform the understanding of the genetic origins of adult neurological diseases. As a result, her work seeks to reveal the biological insights provided by genetic discoveries. In the sphere of rare neurogenetic diseases this has meant using correlations in transcriptomic data generated in human brain to identify hidden gene-gene relationships amongst Mendelian genes and their relationship to better characterized genes. In the context of complex neurological diseases, such as Parkinson’s Disease, where genetic discoveries are largely made in the form of loci, she has generated and used regulatory data across the human brain to link disease risk positions to specific genes. Thus, over the last ten years, she has developed extensive expertise in the generation and use of human brain transcriptomic data with a specific focus on neurodegenerative diseases.

Beverly is CEO of Unique (www.rarechromo.org), a UK-based charity. Unique works to support, inform and network with over 23,000 families worldwide living with a confirmed rare chromosome disorder or autosomal dominant single gene disorder associated with intellectual impairment and developmental delay as a minimum.  Formerly a post-doctoral research biologist with an interest in the biochemistry and genetics of yeast, Beverly’s professional and personal lives collided in 1990 with the birth of her profoundly disabled and medically very complex daughter who had an 18p deletion. Responsible for the day to day running of Unique and development of its services, Beverly leads a highly-qualified staff team of 10. Services provided by Unique include a helpline responding to queries from families and professionals, including family-matching and provision of anonymised phenotypes associated with specific aberrant genotypes from the group’s extensive registry/database of the lifetime effects of these disorders; a suite of accessible, comprehensive, medically-verified information guides to more than 300 different rare chromosome and single gene disorders, many translated into other languages; a suite of practical guides to help families with the challenges rare chromosome and gene disorders bring to their daily lives; a wide range of social media outlets including a hugely popular Facebook Networking Cafe where member families can support each other in a safe, private environment. Unique acts as a conduit between member families and professionals seeking participants in their research studies. Unique strives to raise the profile of rare chromosome and single gene disorders among affected families, involved professionals and the general public.  Members of the Unique team participate in numerous advisory boards and committees, representing the views, experiences and needs of member families. For example, Beverly sits as a patient representative on the DHSC Rare Disease Policy Board and on a number of research project advisory boards.