RARE/D Conversations RARE/D Manchester

In our first (pilot) episode we talk with Professor Bill Newman from Manchester about Rare opportunities and how will the 100, 000 Genomes Project change health care?
Professor Bill Newman is Professor of Translational Genomic Medicine in The Manchester Centre for Genomic Medicine at the University of Manchester and Honorary Consultant at Manchester University NHS Foundation Trust. He is also Director of the Greater Manchester Genomic Medicine Centre for the 100,000 Genomes Project.

Our RARE/D conversations are hosted by Nichola Garde and Mariangels Ferrer, and aim to stimulate and capture public conversation about one of the biggest changes in how we think about health – what does it mean to have a rare disease and how we all may become “RARE” when genomics becomes part of mainstream healthcare. This project will focus on the psychological, ethical and economic debates and in turn show how social science is helping to shape the health care of the future.

In our second episode we talk to Dr John McDermott, Professor Margaret Brazier, Rachel Mahood, and Rachel Corry about ethical dilemmas in clinical trials and first Point of Care Genomic test to be delivered in NICU.
Dr John McDermott is an Academic Clinical Fellow at Manchester Centre for Genomic Medicine and works on the PALOH study.
Professor Margaret Brazier is Professor of Law at the University of Manchester and is one of the foremost medical Lawyers in the United Kingdom. She has an international reputation, not only for the quality of her legal scholarship but also for her role in medical science regulation. Her book Medicine, Patients and the Law is a major reference point in the field. Professor Brazier’s work has covered the understanding of the Regulation of medical practice and medical ethics; the Analysis of how ethical considerations can or should be reflected in Law and mutual rights and responsibilities of doctors and patients.
Rachel Corry is a parent and lay expert/investigator in the PALOH study which is examining the use of pharmacogenetics in neonatal units. This will involve informing parents that testing has occurred to check whether their child has a rare mutation which could have led to hearing loss had standard treatment been followed.

Our RARE/D conversations are hosted by Nichola Garde and Mariangels Ferrer, and aim to stimulate and capture public conversation about one of the biggest changes in how we think about health – what does it mean to have a rare disease and how we all may become “RARE” when genomics becomes part of mainstream healthcare. This project will focus on the psychological, ethical and economic debates and in turn show how social science is helping to shape the health care of the future.

Find out more at www.rare-d.com

In a very different episode, we chat with our very own Jay Roche and his wife Sarah about the family's long connection with Manchester Genetics Department and how different things have shaped their story.

We discuss about making conscious decisions about both small and big aspects of our lives, from parenting to careers.  We hear about how we all perceive 'normal' differently, how we recognise the different types of both visible and invisible support around every single one of us, and a grown man hiding in a suitcase!


More about Huntington's Disease:

Huntington's disease (often shortened to HD)  is a genetic condition that causes involuntary movements (fidgety type movements sometimes referred to as ‘chorea’)  and changes in thinking and concentration as well as behaviour changes such as irritability and low mood.
Symptoms of Huntington's disease usually develop between ages 30 and 50, but can also occur earlier or later. Each child of an affected parent has a 50% risk of inheriting either the normal or faulty copy of the HD gene.**  This risk is the same for men and women. 
HD is slowly progressive over a number of years.  Whilst there is much that can be done to help manage the symptoms associated with HD, there is not currently a way of stopping it.  There is, however progress being made in disease modifying treatment trials for HD. 
 
** If a person inherits the faulty copy of the HD gene he or she will go on to develop the condition at some point in the future. If a person inherits the normal copy of the HD gene, he or she will not develop the condition and cannot in turn pass it on to their children 

In our 4th episode we chat to Professor Dian Donnai, Sally Hatton, and Professor Andrew Read about the many topics around the scientific discoveries the importance of thinking about the people they impact.

A very special live recording at The Whitworth Art Gallery in Manchester where our group first met - we chat about the human genome with Genetic Counsellor Sasha Henriques and Dr George Burghel from Manchester Genomics, and some local schoolchildren - the patients of tomorrow.

We find out what rare actually means - and that we're not so rare after all!

The recording was part of our RARE/D LIVE event - just one of the activities happening around the globe to support Rare Disease Day 2020.

In a change from our usual podcast recordings, we talk over Zoom with Prof Jie Ding of Peking University First Hospital, supported by guest listener Prof Tao Wang in the conversation and with additional guest listeners, Prof Lauren Kerzin-Storrar and our very own Jay Roche.
Not originally planned in this series, the recording is the first of three special RARE/D international conversations, in which we will be talking RARE/D in the International context, and in the context of the affect Covid 19 is having on everyone.

Our guests will have the chance to share their ideas in a very particular and unique format which has been inspired by Narrative practice. 

Find out more on our website at www.rare-d.com