Destroy mutant mitochondrial DNA with MRC-MBU at RAREfest22

The strategic mission of the MBU is to understand mitochondrial biology in health and disease, and to exploit this understanding to develop new therapies and improve human health.

Alex Whitworth is a Group Leader at the Medical Research Council Mitochondrial Biology Unit (MRC-MBU) and leads one of the 9 teams within it. Penny Peck is the Communications and Postgraduate Manager, supporting the postgraduate students and coordinating the programme of public engagement activities.

Financed largely by the Medical Research Council, Alex and his researchers focus on understanding the fundamental biology of mitochondria, a particular part of the cell, that sometimes go wrong and cause disease. As he explained:

“The emphasis of our research is mitochondria. Mitochondria are a particular part of the cell found in almost every cell of the body and best known for being the powerhouses of the cell – the cellular batteries. They are a real hub for metabolic processes that convert the food that we eat into actual useable energy within our bodies. So, directly or indirectly, they influence virtually every single process that goes on within our bodies. Because of this, problems with mitochondria often affect our most active tissues, such as the brain, our muscles and heart.”
Alex Whitworth

Group Leader

The unit’s role encompasses understanding many of the basic functions of mitochondria, and in particular investigating how this contributes to or directly causes a range of diseases. Therefore, the researchers are working on areas such as heart disease and stroke. Alex’s research is focussed on neurodegenerative diseases and typically the more common neurodegenerative diseases, such as Alzheimer’s and Parkinson’s.

A very special feature of mitochondria is that they have their own small genome,(DNA) which is susceptible to mutation. So, there are some very specific types of diseases which are caused by the mutation of the mitochondrial genome. While these tend to be relatively rare types of diseases, natural variations in the mitochondrial genome also influence a wide range of more common conditions.

Another interesting phenomenon of the mitochondrial genome is that it is transmitted exclusively through the maternal line, so you inherit all your mitochondria DNA from your mother. As opposed to half the copies of the nuclear DNA coming from mum and half from dad. This establishes an interesting clinical solution for mitochondrial diseases that show an unusual inheritance pattern. As Alex explains:

“Advances that have happened in the last few years are aimed at tackling some of these mitochondrial diseases, including one solution coined the ‘3-person baby’. As you have genetic contributions from mum and dad, for the majority of the genome, and mum only for the mitochondria genome, if there is a problem only with the mitochondria genome but the rest of the genome is perfectly fine, you could simply replace the mitochondrial genome with a good set. For example, using in vitro fertilisation, you can replace the mitochondria that are bad with mitochondria which are good from another maternal donor. This then means mum, dad and a third person contribute to the baby. Hence the name ’3-person baby’. In theory this should be able to cure a lot of these diseases. And excitingly the UK is one of the leading centres in the world that is pioneering this technology. ”

Alex and Penny are excited to bring a special game to RAREfest22 which enables them to talk about the research described above and allow people to better understand how mitochondria have their own genome, and explain how one of the therapeutic angles is to try and remove the bad mitochondria and the kinds of technology the research teams in their unit have been developing. As Penny explains:

At RAREfest we will have a number of specialist biology researchers on hand to help with our game and explain the science! We will have mitochondria looking like how they appear in our cells, along with ‘good’ mitochondrial DNA (green balls) mixed with ‘bad’ mitochondrial DNA (black balls), and the challenge will be to place all the bad in our mitochondrial DNA dustbin!

Both Alex and Penny wish to showcase that this is an exciting time for mitochondrial research and translational science. They both firmly believe that researchers are on the cusp of now being truly able to translate the research and technological developments into viable therapeutic approaches. And whilst there is still some way to go regarding safety and efficacy, it is about hope and knowing that they can make a real difference in the delivery of solutions in the foreseeable future.

So come and see Alex, Penny and their team at RAREFest22 – learn and have fun on the day!

Rare Youth Revolution at RAREfest22

Chelsea Wong is the Youth Coordinator for Rare Youth Revolution (RYR). Rare Youth Revolution is a global news and opinion, digital magazine platform, dedicated to powering up the voices of the young people in the rare disease community. They aim to bring quality news, for young people, by young people.

They are part of, but different to, their main magazine, Rare Revolution which focusses on adults living with a rare condition. Rare Youth Revolution instead, focusses on young people living with a rare disease as that is an entirely different audience. Their aim is to amplify their voices and give them a safe space to feel heard. As Chelsea explains:

We want young people to feel supported and safe in telling their story and to know they are being heard and listened to. Rare Youth Revolution is about empowerment and inspiring open and authentic stories told by young people for young people.

Chelsea, in her role as Youth Coordinator and also living with a rare condition herself is well-placed to coordinate and support the wide range of opportunities for these young people. She can help them raise awareness about their specific condition in a range of formats from writing to video, art, and social media campaigns. Chelsea is delighted that one of their initiatives called Rare Talks provides an opportunity for people living with the same rare disease to discuss, through video, the surrounding issues of living with the same condition. It also gives them the chance to share similarities and differences of their lives, despite living with the same rare disease.

“I was trying to find that perfect balance for me, being able to express myself in a work environment, and work well whilst living with my condition. So, this seemed like the perfect fit, so I just went for it and here I am!”
Chelsea Wong

Youth co-ordinator

Exhibiting at RAREfest22

One of Chelsea’s first tasks was to sort out their presence at RAREfest22. She will be contributing in two ways. The first is a session called Rare Monologues, where the RYR team will work in collaboration with Medics4Rare Diseases. Four people from the RYR team will perform a short monologue speaking about difficult conversations. This includes medical gaslighting, trying to put your foot through the door, advocating for yourself in medical appointments and trying to be heard. All topics can be difficult to speak aloud and be incredibly overwhelming, especially for young people. This impactful session invites these young advocates to speak to the room and feel listened to.

RARE youth Revolution Experience

Secondly, Chelsea is bringing an interactive session as an exhibitor. Her stand will showcase the human body with numbers on it. Behind each number will be an audio of symptoms relating to that specific area. Plus, it provides further information of a lived experience by a young person about their actual condition rather than just the symptom itself. Chelsea explained the rationale:

I have tried really hard not just to make it educational, but also interactive and easy to follow. I also wanted to make sure it was very personal. When people listen to these audios, they will be listening to an actual person who is talking about their condition. I want the public to see the variety of rare conditions, but also how young people differ and go about their lives in a different way once they have adapted to those symptoms, since they have been diagnosed.

Come and see Chelsea and her Youth Team at RAREfest22 and see for yourself the issues that matter to young people living with a rare disease and how young people live positively with their condition!

Finding a needle in a haystack

Dr Kate Downes is the Clinical Scientist Lead for the East Genomic Laboratory Hub. Genomic medicine is a rapidly growing and dynamic field, and we are increasingly finding
more answers to help us provide more results to patients and their families.

The East Genomic Laboratory Hub (GLH) provides genetic testing for patients in the East Midland and East Anglia regions for both rare disease and cancer as part of the NHS Genomic Medicine Service. As the Rare Disease Clinical Scientist Lead, Kate works across the three genetic laboratories within the region at Cambridge, Leicester and Nottingham. All three laboratories receive rare disease test orders from doctors and healthcare professionals for patients who have a suspected genetic disorder. Genetic testing may be performed in house, with technologists generating genetic data, bioinformatics teams analysing results and Clinical Scientist interpreting the genetic variants identified and generating clinical results reports. As Kate explains, for some specialist genetic tests, the East GLH sends DNA to one of the other six GLHs in England to perform genetic testing and the East GLH also receives DNA for testing for specialist testing performed at the Cambridge Genomics Laboratory. In this way, the seven GLHs work in partnership to offer comprehensive genomic testing for all NHS patients.

This is a thrilling time to be working in the world of genomics, as explained by Kate.

“We are using new technologies and we are introducing new technologies all the time to perform testing in patient samples to identify the cause of their rare disease and clinical symptoms. We are translating new techniques, tests and analysis methods alongside using the latest understanding of new genes and disorders. We can now use big databases of genetic data from population and patient cohorts generated across the world. These resources help the Clinical Scientists interpret a new genetic variant we have identified in a patient. The questions we ask is: has this genetic variant been seen before in another patient with similar clinical symptoms? If the answer is yes then it is likely that this genetic variant is the cause of the patient’s disorder.”

“Together the introduction of new technologies and analysis methods with increased data sharing across the world help is provide more and more genetic diagnosis to patients.”
Dr Kate Downes

Clinical Scientist Lead

Having been an academic scientist for most of her career, Kate decided to move into the NHS. Supported by colleagues at the University of Cambridge and the NHS Cambridge Genomics laboratory, she was trained and gained experience that enabled her to register as a Clinical Scientist. She has worked in the Cambridge Genomics Laboratory as a Clinical Scientist for three years now and has welcomed the opportunity to take on her current role as the East GLH Clinical Scientist lead.

Kate loves her job, working with a huge team of people who are enthusiastic and incredibly knowledgeable in lots of different areas, located across the East region.


Dr Kate Downes
Genomics Lab CUH Hospital

My day to day role is really varied. I get to speak with members of the East GLH team within the Cambridge, Nottingham and Leicester laboratories, I also take part in national discussions to improve and standardise genomic services and improve patient pathways. And why do I love doing that? The reason I am in this role is to provide the best possible service for patients and their families right now, but also importantly to bring in new technologies, processes and knowledge into the laboratory to improve testing strategies in the future.

Come and join Kate and the East GLH team at RAREfest22, as they help people understand the genetics of rare disease. Do you fancy a career in health science?

We would really like to inspire young people to consider a career in healthcare science within the NHS. So at RAREfest22 we will have some fun activities alongside the opportunity to ask questions for our Clinical Scientists, Genetic Technologists and Bioinformaticians. We are planning to entertain and hopefully educate and inspire the next generation of healthcare