About this event

  • Date and time Thu 17 Dec 2020 from 5:00pm to 6:05pm
  • Location Online
  • Organised by Medical Genetics

In this exciting 3-part webinar, representatives from NHS England will give an up to date outline of the changes in genomic infrastructure which will transform the provision of genomic testing in the NHS.

In this third webinar, speakers will discuss the impact of genomic results and consider the necessary steps and processes after testing is complete.

During this webinar you will:

  • Consider the knowledge base and skills to communicate genomic results.

  • Think about how genomic testing is likely to evolve.

  • Consider how to support patients who have had a genomic test.

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Registration for this webinar will close 2 hours prior to the start time. You will receive the webinar link 2 hours before the meeting. Late registrations will not be accepted.

A CPD certificate with 1 CPD credit will be issued to those joining the webinar live as well as those who watch the recording afterwards. Certificates will be issued 7 days after the webinar to those who watch it live and after 30 days for those that watch the recording. 

Key speakers

Dr Shwetha Ramachandrappa

Consultant Clinical Geneticist, Guy's and St Thomas' NHS Foundation Trust

Speaker's biography

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.

Professor Mina Ryten

Professor of Clinical Genetics, University College London Great Ormond Street Institute of Child Health and Honorary Consultant in Clinical Genetics, Great Ormond Street Hospital

Speaker's biography

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.

Dr Beverly Searle

Chief Executive Officer, Unique - Rare Chromosome and Gene Disorder Support Group

Speaker's biography

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.

Agenda

View the programme

Welcome and introduction

Dr Shwetha Ramachandrappa, Consultant Clinical Geneticist, Guy's and St Thomas' NHS Foundation Trust

Delivering genomic results

Dr Shwetha Ramachandrappa

Beyond the revolution – future frontiers in genomic testing

Professor Mina Ryten, Professor of Clinical Genetics, University College London Great Ormond Street Institute of Child Health and Honorary Consultant in Clinical Genetics, Great Ormond Street Hospital

Supporting patients and families beyond testing

Dr Beverly Searle, Chief Executive Officer, Unique - Rare Chromosome and Gene Disorder Support Group

Panel discussion
Close of meeting

Location

Online

More from this series:

MGP52 Promo
Webinar CPD

The genomic revolution: A practical guide to what you can’t afford not to know P1

This exciting 3-part webinar series sees representatives from NHS England give an up-to-date outline of the changes in genomic infrastructure which will transform the provision of genomic testing in the NHS.

In this first webinar, top speakers will help clinicians understand how the increasing availability of state of the art genomic testing in the NHS will impact their day to day clinical practice. 

MGP52 Promo
Webinar CPD

The genomic revolution: A practical guide to what you can’t afford not to know P2

In this exciting 3-part webinar, representatives from NHS England will give an up to date outline of the changes in genomic infrastructure which will transform the provision of genomic testing in the NHS.

In this second webinar, delegates will explore how to approach genomic testing with patients and discuss when and how to organise a genetic test for your patient.

Disclaimer: All views expressed in this webinar are of the speakers themselves and not of the RSM. 

Special rates for difficult times 
The RSM wishes to offer healthcare professionals continued learning opportunities during the coronavirus pandemic. The RSM’s COVID-19 online events are available free of charge, while there will be small charges to register for other online education. These fees will enable the RSM to continue its programme of activities and will apply during the course of the pandemic. 

Registration for this webinar will close 2 hours prior to the start time. You will receive the webinar link 2 hours before the meeting. Late registrations will not be accepted.

Webinar recordings will be available for registered delegates up to 30 days after the live webinar, via Zoom. The link will be sent 24 hours after the webinar takes place. 

This webinar will be recorded and stored by the Royal Society of Medicine and may be distributed in future on various internet channels.