Later this month, PET – the charity that publishes BioNews – will be celebrating a very special occasion in partnership with Genomics England. 20 July 2022 will be the 200th birthday of genetics pioneer Gregor Mendel (1822-1884).
To mark this occasion, we will be holding a free-to-attend online event, exploring developments from Mendel's original studies of peas through to the latest advances in genomic medicine. Confirmed speakers include Angela Douglas, deputy chief scientific officer at NHS England.
Mendel was a scientist and monk whose insights, initially overlooked, eventually earned him a reputation as the 'father of genetics'. Working in 19th century Moravia (now part of the Czech Republic), he helped revolutionise our understanding of biological inheritance, and consequently of human health and disease.
Mendel generalised from patterns he observed in pea plants, proposing Laws of Inheritance which – it transpired – were applicable to most plants and animals, including humans. Mendel's legacy is evident throughout modern medicine. We now speak of 'Mendelian' inheritance and 'Mendelian' disorders, to describe phenomena that follow the laws proposed by Mendel.
One example of Mendel's enduring relevance is the Mendelian Inheritance in Man resource, which was originally established in the 1960s and evolved into today's widely used Online Mendelian Inheritance in Man (OMIM). OMIM numbers are now a standard international reference point for understanding genes and disease, and are used by the UK's Human Fertilisation and Embryology Authority when it licenses preimplantation genetic testing.
Mendel's insights have only become more important with time. Genetics, and latterly genomics (which considers our genomes in their entirety rather than confining attention to individual genes), are increasingly important in medicine. Advances in these fields are key to achieving the promise of personalised medicine, where treatments are optimised for particular patients.
Our event will consider what science and medicine have inherited from the 'father of genetics', as well as looking to the future. What are the prospects for understanding and treating Mendelian disorders, in the era of whole genome sequencing? And how are we addressing genetic conditions that do not follow Mendelian patterns of inheritance?
The event will also include an update on the Newborn Genomes Programme – an NHS-embedded pilot which will soon begin recruiting families, to explore whether whole genome sequencing might be offered routinely for all newborn babies.
Speaking alongside Angela Douglas will be Dr John Parrington (author of the books The Deeper Genome, Redesigning Life and Mind Shift), Dr Gemma Chandratillake (chair of the British Society for Genetic Medicine and of the Cambridge Rare Disease Network), Vivienne Parry (head of engagement at Genomics England) and Dr David Bick (clinical adviser at the Newborn Genomes Programme). In the PET tradition, there will be plenty of opportunity to put questions and comments to the speakers.
Find out more and register for the event here.