Retired Civil Servant Pam Thomas, 74 and from Cardiff, was married with two children before she became aware that the hereditary and currently incurable neurodegenerative condition, Huntington’s disease, ran in her family.
After watching her aunt and mother develop symptoms of the disorder, Pam has now decided to mark Huntington’s Disease (HD) Awareness Week (15-21 May) by speaking out about her own fears of inheriting and passing on this deadly condition.
“My mother’s elder sister Sylvia was diagnosed with Huntington’s chorea – as it was then called – when she was in her 50s,” Pam recalled.
“Although the family were aware my aunt had some mental disorder, we didn’t know the cause at the time. My mother Grace, who was three years Sylvia’s junior, also showed signs of odd behaviour but not as obvious as my aunt.”
Hereditary disorder
A decade after Sylvia’s diagnosis, a Cardiff University team led by Professor Harper tracked down other members of Pam’s family. The team was in the process of setting up a database to monitor the hereditary nature of HD – a forerunner of the University’s ‘Enroll’ project.
“I remember being invited to a meeting at my father’s house with a doctor, nurse and social worker,” said Pam. “The information given to us that day was shattering and left us bewildered, confused and upset.
The disease is caused by a single defected gene that attacks the brain’s central nervous system and results in the person struggling with everyday tasks they once took for granted such as basic movement, thinking and feeling.
“Although the team was very supportive, it was difficult to take it all in at once. The next day my father and I visited central library to gain as much information as we could about the little known disorder HD.”
Each child of a parent with HD has a 50% chance of inheriting the gene; it doesn’t skip a generation, so if a child tests positive they will, at some stage, develop the disease. It’s like tossing a genetic coin.
Three generations: Pam Thomas with her children and grandchildren
‘Dark cloud of worry’
“My father bore the brunt of looking after my mother at home until it became too much for him,” said Pam. “She died when she was 70 years old in Nazareth House nursing home. I had been working full time and bringing up my own two children during this time.
“For a number of these years I was an active member of the Huntington’s Disease Association, though this lapsed after my mother’s death.”
Upon discovering the concerning genetic implications of Huntington’s disease, Pam made the decision to be sterilised to ensure she would not pass on the gene.
“Knowing a hereditary incurable illness may exist in our genes definitely casts a shadow of uncertainty over our lives,” said Pam. “Life decisions that should be exciting such as having future children suddenly become an issue of careful consideration.
“Every family is different, but a positive HD diagnosis when you already have children can lead to a lifetime of real worry.
“I decided not to take the HD test, meaning I’m still most likely classed as ‘at risk’, but as more time passes the dark cloud of worry lessens.”
‘Misdiagnosis is a challenge with HD’
“My son and his wife took counselling before they started their family,” Pam explained. “And now I have three lovely grandchildren. My daughter has no children, her choice from the circumstances of her life, which is full and enjoyable.
“Misdiagnosis is often also an issue that needs tackling with Huntington’s disease. That is why Cardiff University’s research is so important for investigating the symptoms and potential therapies of HD to promote accurate, early diagnosis for patients.”
Huntington’s disease left Pam’s mother, Grace, wheelchair bound
BRAIN Unit research
Last year, Pam became part of an Enroll study led by Cardiff University’s BRAIN Involve committee, which brings together patients, carers and academics to shape cutting-edge research into neurological and neurodegenerative diseases.
The committee is run by the University’s Brain Repair And Intracranial Neurotherapeutics (BRAIN) Unit, a research organisation working to develop new therapies for brain diseases in collaboration with Swansea and Bangor Universities in addition to colleagues in NHS Wales and industry.
“The best part of this journey is now knowing the gene should die out in our family,” said Pam.
“Working with Cardiff University’s BRAIN Involve team helps us find a purpose in our experience of this debilitating condition. It is the hope that, someday, these pioneering researchers will make groundbreaking discoveries that can save and improve the lives of future generations suffering from Huntington’s disease.”
- For more information about the BRAIN Unit, please visit: https://brainwalesprd.wpengine.com/
Dr Hannah Furby’s work focuses on Huntington’s disease, a highly heritable neurodegenerative disease, for which there is currently no cure.
It is characterised by cognitive decline, loss of motor control and psychiatric symptoms, and it affects around 7,000 people in Wales and England.
“My research aims to identify therapeutic interventions that may prevent or reduce the suffering of people diagnosed with Huntington’s disease (HD)” said Hannah, who uses magnetic resonance imaging (MRI) to discover relevant biomarkers of the disease, such as changes in white matter microstrucutre and cerebral blood flow.
“I use these methods to see whether therapeutic interventions, like brain-training, or lifestyle factors, such as physical activity, give rise to subtle changes in the brain that may lead to an improvement in some of the symptoms of the condition.”
“Currently, I’m investigating whether completing a home-based computerising brain training programme can bring about disease-related improvements in cognition, and whether this is suggestive of improved biological function.”
“There is currently no cure for HD. Whilst some promising drug trials are underway, these still need to undergo further clinical trials in humans. In the meantime, it’s important to continue looking for ways to improve the prognosis or delay the progression of the disease, so I am interested in whether home-based interventions like physical activity and brain-training may help.”
MRI under-utilised in Huntington’s disease research
Compared to other neurodegenerative disorders like Alzheimer’s Disease, there is currently very little MRI research taking place within the field of Huntington’s Disease.
Although it’s prevalence is a lot less (just 1 in 10,000 people), understanding how the toxic effects of the mutant huntingtin gene leads to neurodegeneration can help us to understand the process of neurodegeneration in other diseases.
“Huntington’s disease is unique since we have identified the gene that causes it. This is a dominant gene, which means that if a parent has the disease, their children will have a 50% chance of getting HD themselves.” Hannah explains.
Because it is possible to undergo predictive DNA testing, this gives researchers the rare opportunity to assess people earlier in life, prior to symptom onset, when these therapeutics have the greatest chance of improving prognosis. Tracking the same patients over time using techniques such as MRI, can be used to identify subtle alterations in the brain that might take place, even before any behavioural symptoms are observed.
“My research focuses on people with pre-manifest HD. I hope that subtle changes in blood flow or micro-structure that are detectable at this early stage of HD can help us understand other neurodegenerative diseases which are less predictable”
“MRI is a fantastic measure for assessing these longitudinal changes in the brain, but may not always be suitable for HD patients who display a motor symptoms. Head motion can lead to blurring of the scans, making the results much more difficult to interpret. Unfortunately, this is a limitation of MRI research, so that we are often restricted to assessing patients earlier in the disease, or those without head motion.”
Changes to brain
Up to 50% of the cell loss expected to occur across the course of the disease happens before any motor symptoms are displayed. The region most affected is the striatum, a component of the basal ganglia, a group of nuclei with a variety of functions, including facilitating voluntary movement.
“Using Diffusion Tensor Imaging, a type of MRI that we specialise in at the Cardiff University Brain Imaging Centre (CUBRIC), we have identified tissues changes in pre-symptomatic HD participants, even in the absence of brain shrinkage in these other regions, suggesting that morphological changes occur before the death of neurons.”
The future
Working with neuroimaging specialists at CUBRIC, Huntington’s disease researchers are using advanced imaging techniques and developing analysis pipelines to help detect subtle changes in brain physiology.
“Quantifying the physiological effects of cognitive and physical training with MRI will be extremely useful for future research and can be used to guide similar interventions in other diseases” said Hannah.
“I have seen the difficulties that the disease can cause for families and have been inspired by the dedication that patients have when it comes to taking part in research. I hope that the research I do will contribute to this understanding, and in some small way, alleviate the suffering experienced by people affected by the disease.”
Get involved
If you’re interested in helping with our MRI research into Huntington’s disease, contact Hannah:
A pioneering researcher at Cardiff University hopes to break down the stigma surrounding Huntington’s disease during this year’s HD awareness week campaign.
Dr Emma Yhnell, HD Research Fellow at NMHRI
Dr Emma Yhnell, a Research Fellow at the University’s Neurosciences and Mental Health Research Institute (NMHRI), is encouraging academics and the community to highlight the importance of research in battling this currently incurable condition.
Unlike any other neurodegenerative disorder, Huntington’s disease (HD) is caused by a single faulty gene which attacks the central nervous system and can ultimately affect a person’s ability to move, think, speak, feel and eat independently.
A hereditary condition, each child of a parent with HD has a 50% chance of inheriting the gene; it doesn’t skip a generation, so if a child tests positive they will, at some stage, develop the disease. It’s like tossing a genetic coin.
The annual campaign is organised by the national charity, Huntington’s Disease Association, which supports individuals affected by HD and their families.
Too often genetics overlooked
“It is the hereditary nature of HD that makes it so concerning for so many families,” said Dr Yhnell.
“Around 28,480 people live with a high genetic risk of inheriting HD in England and Wales. Yet, too often the genetic implications of this condition are overlooked and HD is frequently mistaken for other movement-related disorders such as Parkinson’s disease.
“It is not just the physical effects that can be so damaging to a person’s life – HD can leave people feeling isolated, lonely and in need of extra care, which in turn puts additional strain on families. We hope this month’s awareness campaign will help break down the stigma and misconceptions surrounding Huntington’s disease and raise awareness of the condition.”
The nature of this disorder means it damages nerve cells in the brain, with injury getting progressively worse over time and impacting everything from a person’s movement and cognition (perception, awareness, thinking, judgement) to behaviour.
Microscopic DNA gene
Translating research from paper to patients
Having completed her PhD in Huntington’s disease research in December 2015, Dr Yhnell secured a competitive Health and Care Research Wales fellowship to translate her pre-clinical findings to patients who are affected by HD.
“Working closely with patients is a key part of my role and I love feeling that I can make a real difference in people’s lives,” Dr Yhnell continued.
“The aim of my research is to find new therapies and interventions to help people who are living with this debilitating brain disorder.
“The single gene defect in Huntington’s means that we know exactly where the defect occurs and can target the gene when researching different therapies, whether it be brain training games, genetics work or exercise strategies.
“One of the therapies I’m researching is the use of computer games for improving thinking skills in patients who are affected by HD. Although brain games have been used in other brain diseases such as Parkinson’s disease and Alzheimer’s disease in the past, this is a first for studies in people with HD and my pre-clinical research shows good potential for taking this further.
“There is no better feeling than finally getting the results of an experiment that you have been working on for two years. More importantly, I believe this research is of utmost importance to improving the lives of thousands of families across the country.”
Protecting future generations
The awareness campaign is organised by the national charity, Huntington’s Disease Association, which is urging the nation to upload social media photos of their houses ‘lit up’ with candles and lanterns to put a spotlight on the need for HD research.
Dr Yhnell, who features on a list of Welsh women at the forefront of scientific innovation, added: “People affected by HD often say to me that getting involved in our research gives them a sense of investing in the protection of future generations.
“Not just for the wider community, but for their future families who may carry the gene. The work can be altruistic both for the participant and myself as a researcher.
“Whether you have personal experience of HD or are simply interested in raising awareness of this little known condition, we urge everyone to visit the Cardiff University website to learn more about our potentially life-changing research.”
Cardiff University’s MRC Centre for Neuropsychiatric Genetics and Genomics runs a Wales Huntington’s disease Involving People Group, which consists of people affected by the disorder, their families and carers. The group works to improve research, communication and training, and is supported by Involving People, an organisation committed to encouraging patients’ active involvement in health and social care research in Wales.
- For more information into Cardiff University’s NMHRI work into cognitive training in Huntington’s disease, please contact nmhricomms@cardiff.ac.uk or tweet the centre @neurosciencecu.
Cardiff University is pleased to announce plans to conduct a stem cell transplantation procedure that could benefit people affected by Huntington’s disease (HD) in Wales.
The Brain Repair and Intracranial Neurotherapeutics (BRAIN) Unit kicked off Huntington’s Disease Awareness Week (15-21 May) by unveiling its intention to perform the first of its pioneering procedures by the end of this year.
The aim of the surgery is to use advanced technologies to deliver stem cells into patients who are living with HD – a hereditary neurodegenerative disorder that attacks the central nervous system – in the hope of slowing the development of symptoms.
Unlike any other neurodegenerative disorder, Huntington’s disease is caused by a single faulty gene, which is currently incurable and affects everything from a person’s movement to their feelings and thought processes.
Professor of Functional Neurosurgery at the (BRAIN) Unit William Gray was awarded a Life Sciences Bridging Fund to conduct the new procedure, which will assess the effectiveness of a novel delivery system in stem cell transplantation, in three patients with Huntington’s disease by March 2018. The delivery system will be based on the drug delivery technology developed by Renishaw plc.
This will be the second time the University has collaborated with world-leading engineering and scientific technology company Renishaw, whose neuromate® technology also enabled Professor Gray to perform the first ever robot-assisted epilepsy neurosurgery in Wales earlier this year.
This latest advancement is hoped to be a next step for the University’s path towards becoming a centre of excellence for developing and delivering novel therapies for brain repair in neurodegenerative diseases.
“The procedure marks a next stage in our battle to combat the debilitating effects of this currently incurable disorder,” said Professor Gray.
“Whilst the measurability of the surgery’s success may not be clear-cut for more than a year post-transplantation, we are hopeful the procedure could significantly contribute to the long-term development of therapies for thousands of people living with Huntington’s disease.” Professor William Gray Professor of Functional Neurosurgery, Neuroscience & Mental Health Research Institute
Health and Care Research Wales Director, Jon Bisson, said:
“I am delighted to see BRAIN playing such a vital role in driving novel therapies into clinical practice. The unit is one of many internationally recognised research centres and units in Wales, making a positive impact on the health and wellbeing of the people of Wales.”
Paul Skinner, General Manager of Neurological Products at Renishaw, added:
“We are pleased that Renishaw’s expertise in engineering is continuing to support pioneering research at the University Hospital of Wales. It is exciting to be part of a collaboration that sees precision engineering and innovative surgical practice working in synergy to improve patient outcomes.”
Today marks the start of Huntington’s Disease Awareness Week, a campaign to increase the profile of a much misunderstood condition.
Throughout the week we are planning to publish a series of case studies highlighting the variety of Huntington’s disease research taking place at the University, the scientists carrying out the research, and the impact the disease can have on peoples’ lives.
Huntington’s disease
A hereditary disorder, Huntington’s disease is a little known neurodegenerative condition caused by a single faulty gene that attacks the brain’s central nervous system, with damage impacting a person’s ability to speak, walk, and feel.
According to Huntington’s Disease Association, a national charity that supports people affected by HD, around 28,480 people live with a high genetic risk of inheriting Huntington’s disease in England and Wales.
A child whose parent has HD has a 50% chance of inheriting the gene that causes this currently incurable disorder. It doesn’t skip a generation, and a child who tests HD positive will, at some point, develop symptoms of the disease.
Raising the profile of Huntington’s research
This week we will be exploring the MRI research being conducted by Dr Hannah Furby, the cognitive work being led by Dr Emma Yhnell and the stem cell research undertaken by Jasmine Donaldson, a PhD student supervised by Professor Lesley Jones.
We will also be using Twitter to highlight our research, the facts about Huntington’s disease and some of the support available to families with the condition. You can either follow our campaign on @neurosciencecu or keep up with the wider campaign using #HDawarenessweek.
Cardiff University Brain Research Imaging Centre (CUBRIC) has won a major science buildings award beating off competition from shortlisted facilities in the USA, England, Scotland and Ireland.
CUBRIC triumphed in the Life Science Research Building Category at the 2017 S-Lab Awards, which recognise excellence in science buildings, equipment, facilities and management.
Other facilities shortlisted in the category included UCL’s Sainsbury Wellcome Centre and the Allen Institute’s new headquarters in Seattle.
This is the third major award for CUBRIC in a couple of weeks after it won Project of the Year and the Design through Innovation title at the 2017 RICS Awards, Wales in April.
In addition, CUBRIC was runner up in the Buildings that Inspire category of the 2017 Guardian University Awards.
Delivered by CAPITA, IBI Group, and BAM Construction Ltd, on behalf of Cardiff University, the centre is a world leader for research in areas such as psychology, psychiatry and neuroscience.
“A special place”
Cardiff University Deputy Vice-Chancellor Professor Karen Holford said:
“It’s a great honour for Cardiff University Brain Research Imaging Centre to pick up a significant award like this…”
“CUBRIC is indeed a special place. It is home to world leading researchers and a combination of facilities not found anywhere else in Europe.” Professor Karen Holford Professor
“Its work is of global significance as researchers seek a better understanding of the causes of neurological and psychiatric conditions such as dementia and multiple sclerosis, which we hope will lead to the development of better treatments.”
A Royal opening for CUBRIC in 2016
CUBRIC is home to powerful MRI scanning facilities, brain stimulation equipment, sleep laboratories, modern offices and break-out spaces.
The £44m facility was officially opened by Her Majesty The Queen in 2016.
The BRAIN Unit’s Professor of Functional Neurosurgery, Prof. William Gray, successfully performs the first robot-assisted epilepsy procedure in Wales.
Cardiff University is celebrating the landmark stereoelectroencephalography (SEEG) procedure, which was conducted at The University Hospital of Wales and is the first of its kind to be carried out with robotic assistance in Wales.
The ‘neuromate’ robot, named by creators Renishaw, a world-leading engineering and scientific technology company, assisted Prof. Gray during the surgery while he used intracerebral electrodes to measure electrical signals in the brain.
Patient Denise Casey, from Neath Port Talbot, was diagnosed with skewen epilepsy when she was 31, suffering up to six fits every day for the past 20 years.
With the robotic arm, it took Prof. Gray 55 minutes to accurately identify and operate on the epileptogenic zone in a procedure that would normally take four hours. Follow-up surgery a week later was performed in the hope of relieving Denise of her epileptic symptoms.
“The Renishaw Robot is a significant step forward for epilepsy surgery in Wales,” said Prof. Gray.
“It will enable us to investigate and treat even the most complex cases to achieve seizure freedom for our patients. In collaboration with the BRAIN Unit, it will also enable us to perform leading research for measuring brain signals and delivering therapies directly into the brain, across many neurological diseases.”
This landmark procedure coincided with BioWales, Cardiff’s annual conference which celebrates Wales’ position as a global pioneer in the life science sector. Andrea Richards, Directorate Manager for Neurosciences at Cardiff and Vale University Health Board, said:
“We are pleased that this collaboration has enabled a number of improvements to be made to patient care.
“Neurosurgical patients will now spend less time in the operating theatre, have a reduced risk of infection and benefit from improved surgical outcomes.”
Dr Abed Hammoud, CEO of Renishaw Mayfield SA in Switzerland, added:
“We are delighted to hear that our expertise in technology and engineering contributed to a positive result at the University Hospital of Wales, and look forward to working closely with the neuroscience department to deliver best possible outcomes for patients in Wales.”
Denise has not suffered any fits since her operations in March, and even appeared alongside Prof. Gray on BBC Wales television to discuss her experience. Watch the interview here: http://www.bbc.co.uk/news/uk-wales-39513139
Dr Emma Yhnell has been included in a list of Welsh women who are at the forefront of scientific innovation.
Dr Yhnell is passionate about public engagement
Emma successfully obtained her PhD in Huntington’s disease research in December 2015.
She has since received competitive research funding and she is currently working on a Health and Care Research Wales fellowship to translate the pre-clinical findings of her PhD into patients who are affected by Huntington’s disease.
She is also a STEM ambassador and member of Speakezee – a searchable database of academic expert speakers.
She said:
“I love the challenge of answering questions which nobody knows the answers to.
“There is no better feeling than finally getting the results of an experiment that you have been working on for two years.
“I also love talking to patients and feeling that I can make a real difference to people’s lives. I get paid to do something I love and I really appreciate that.
“The aim of my research is to find new therapies and interventions to help people who are living with brain diseases such as Huntington’s.
“A hereditary brain condition affecting movement and thinking, Huntington’s disease can leave people feeling isolated, lonely and in need of extra care.
“One of the therapies I’m researching is the use of computer games for improving thinking skills in patients who are affected by Huntington’s disease.
“Although in the past, brain games have been used in other brain diseases such as Parkinson’s disease and Alzheimer’s disease, this will be a first for studies in people with Huntington’s disease.
“Based on pre-clinical work and research into other brain diseases we think that computer game brain training has the potential to be beneficial in Huntington’s disease, but we have to test this to be sure.”
Dr Emma Yhnell has been awarded a three-year Health and Care Research Wales Fellowship to investigate a possible therapeutic intervention for people with Huntington’s disease.
Dr Yhnell’s study will be the first to use computer-based cognitive training for people with Huntington’s disease.
A hereditary brain condition affecting movement and thinking, Huntington’s disease can leave people feeling isolated, lonely and in need of extra care. Dr Yhnell, who is based at the University’s Neuroscience and Mental Health Research Institute, is aiming to establish whether computer games can be tailored for individuals with HD, in turn improving their thinking skills.
Although in the past, brain games have been used in other brain diseases such as Parkinson’s disease and Alzheimer’s disease, this will be a first for studies in people with Huntington’s disease. Dr Yhnell said:
“Using computer game brain training for people with Huntington’s disease has not been done before. Based on pre-clinical work and research into other brain diseases we think that computer game brain training has the potential to be beneficial in Huntington’s disease, but we have to test this to be sure.”
Participants in the study will be using a cognitive training software called HAPPYneuron. At the beginning of the study, participants will be asked to complete a series of tasks which test their memory and attention to determine any specific cognitive impairments. Following this initial assessment, a programme of computer tasks will then be designed and personalised for each participant, with the aim of improving their specific cognitive impairments.
Emma’s research focuses on Huntington’s disease and improving the lives of those affected by it.
For 12 weeks, participants will complete their personalised HAPPYneuron programme of computer games in their own homes, supported by home visits and email/telephone reminders. Once completed, tests of motor and cognitive skills will be used to determine any benefit of the cognitive training intervention.
“Being able to complete the brain training computer games at home is really important as having multiple research visits can be inconvenient and tiring for research participants,” said Dr Yhnell. “Completing the brain training at home means that only a small number of research visits are necessary.”
With hopes to bring the brain training computer games not only to the annual HD Open morning at Cardiff’s HD Centre but also to Cardiff University’s annual ‘Brain Games’ at Cardiff Museum, Dr Yhnell wants to present this research both to the HD community and the general public. She also aims to visit local schools and colleges in her role as a Science, Technology Engineering and Mathematics (STEM) ambassador.
“Public engagement and involvement in science research is absolutely vital,” said Dr Yhnell.
“Increasing awareness and understanding of Huntington’s disease is something that I am particularly passionate about as this is a relatively rare but devastating disease.”
