SCYPHeR Grand Round: Rare Disease with Professor Nick Lench and Dr Peter Oliver

We are pleased to invite you to the next session in our SCYPHeR Grand Round series. This session will be held online via Microsoft Teams.

Our speakers, Professor Nick Lench and Dr Peter Oliver work at The Nucleic Acid Therapy Accelerator (NATA), a not-for-profit Medical Research Council (MRC) Unit uniquely positioned within UK Research and Innovation (UKRI). We operate at the intersection of academia, preclinical research and industry to advance the development of nucleic acid therapies (NATs) and associated technologies through high-quality science, collaborations and interdisciplinary research. 

Precision Genetic Therapies for Rare Diseases

Professor Nick Lench, Executive Director, Nucleic Acids Therapy Accelerator

Abstract: This presentation provides an introduction to antisense oligonucleotide RNA therapies and their use in the treatment of rare genetic diseases. ASOs can be used to modulate gene expression through silencing, knockdown, exon skipping and splice switching. The success of nusinersen (Spinraza®) for the treatment of spinal muscular atrophy (SMA) demonstrates how an ASO can restore functional protein and significantly improve clinical outcomes. Accelerated regulatory approval pathways are now available for N of 1 personalised therapies, particularly for early-onset, regressive, neurological disorders.

Bio: Nick is Executive Director of the MRC Nucleic Acid Therapy Accelerator based at Harwell, UK. Nick has 40 years experience in rare disease genetics and genomic medicine and has worked in academia, industry and the NHS. Nick was a co-founder of Congenica, a leading international digital health company providing clinical decision support software for rare disease diagnosis and precision medicine. Prior to founding Congenica, Nick was Director of Genetics Services at Great Ormond Street Hospital for Children, London. Nick is an Honorary Professor at the Great Ormond Street Institute of Child Health, UCL and was awarded a Personal Chair in Medical Genetics at Cardiff University, Wales, UK.

Preclinical development of nucleic acid therapeutics for rare and ultra-rare CNS disorders

Dr Peter Oliver, Head of Research, Nucleic Acids Therapy Accelerator

Abstract: NATA has established a preclinical development pipeline for antisense oligonucleotide (ASO) and small interfering RNA (siRNA) therapies, including design, synthesis, conjugation chemistry and biological testing in vitro and in vivo. NATA has a particular interest in rare neurological and neurodevelopmental disorders, where some of the first ASOs have been approved for clinical use. This talk will provide exemplars of the genetic targets being developed by NATA, including aspects of the design and screening process and the 3-D cell models being applied for functional studies.

Bio: Pete joined NATA with over 25 years’ experience in cell and molecular biology. After a degree in Biochemistry and a PhD in Genetics, he led projects studying new models of neurological disorders at the University of Oxford, before becoming a group leader at the Department of Physiology, Anatomy and Genetics in 2012 funded by an ERC Consolidator Award. His group’s work in rare disease modelling using the mouse resulted in a new position as an MRC Programme Leader at the MRC Mammalian Genetics Unit in 2017. Pete joined NATA in February 2022, bringing an understanding of multi-disciplinary approaches to translational science; from biochemistry and cell biology to the application of preclinical genetic tools. Pete remains a visiting academic member of the University of Oxford as Associate Professor of Neuroscience and is an active co-investigator in the MRC National Mouse Genetics Network. Current Scientific Advisory Board and Grant Panel membership includes the Epilepsy Research Institute and the NC3Rs.