A new machine learning model has been developed for the discovery of genetic risk factors in diseases such as Motor Neurone Disease (MND) using artificial intelligence (AI).
The tool, named RefMap, has already been used by the research team to discover 690 risk genes for MND, the vast majority of which are new discoveries.
One of the genes highlighted as a new MND gene, called KANK1, has been shown by the team to produce neurotoxicity in human neurons very similar to that observed in the brains of patients.
Although at an early stage, this discovery has been hailed as potentially a new target for the design of new drugs. It could also pave the way for new targeted therapeutics and genetic testing for MND.
Researchers from the University of Sheffield and the Stanford University School of Medicine have led the research.
“This new tool will help us to understand and profile the genetic basis of MND,” said Dr Johnathan Cooper-Knock, from the University of Sheffield’s Neuroscience Institute.
“Using this model we have already seen a dramatic increase in the number of risk genes for MND, from approximately 15 to 690.
“Each new risk gene discovered is a potential target for the development of new treatments for MND and could also pave the way for genetic testing for families to work out their risk of disease.”
The 690 genes identified by RefMap led to a five-fold increase in discovered heritability, a measure which describes how much of the disease is due to a variation in genetic factors.
“RefMap identifies risk genes by integrating genetic and epigenetic data. It is a generic tool and we are applying it to more diseases in the lab,” Dr Sai Zhang, instructor of genetics at Stanford University School of Medicine said.
Dr Michael Snyder, professor and chair of the department of genetics at the Stanford School of Medicine and also the corresponding author of this work, added: “By doing machine learning for genome analysis, we are discovering more hidden genes for human complex diseases such as MND, which will eventually power personalised treatment and intervention.”
GripAble praised by MP
Stephen Hammond MP hails its innovation and “extraordinary” success to date and potential
The progress of GripAble has been hailed as “extraordinary” by its local MP, who praised its innovation and ongoing progress in transforming neurorehab and wider healthcare.
GripAble, the UK technology company digitising upper limb rehabilitation from hospital to home, welcomed Stephen Hammond, MP for Wimbledon, to its international sales and distribution centre.
Mr Hammond visited GripAble’s office in Wimbledon to learn how private equity investment has helped it to scale its industry-leading data platform and therapy services and expand GripAble into Europe and the US, as well as how an international company has successfully stemmed from the local business community.
During his visit, the MP met the GripAble team and listened to a presentation by GripAble co-founder and CEO Dr Paul Rinne, who shared the background to GripAble and its growth story to date, as well as plans and ambitions for the future.
Prior to becoming an MP, Stephen Hammond worked for a leading fund management company and multiple investment banks, so was particularly interested in the funding GripAble has received to date, including the recent close of its $11m funding round.
With more than 8,000 individuals having already used the platform, GripAble has established itself as a leading technology in the remote-rehab space in the UK, recording 100,000 activity sessions and 27 million movement repetitions across its users.
Stephen Hammond MP said: “GripAble proves that innovative companies of the future that are building products that will transform healthcare can be based anywhere, but I’m particularly proud that GripAble has started out in Wimbledon.
“It’s been wonderful to see the development of the company over the last two years since first meeting Paul, and I’m sure the developments over the next three years will be equally extraordinary, particularly with the backing of private equity investment.”
Dr Rinne said: “Today’s visit was a fantastic opportunity for us to showcase GripAble’s story and vision to a Member of Parliament and explain how private equity investment can help UK-based entrepreneurs take ideas from seed stage through to global scaling, and compete on the international stage.
“The investment we have received will accelerate GripAble’s journey to delivering end-to-end patient rehabilitation and connecting millions to their own personal home-based clinic.
“With the backing of investors such as IP Group and Parkwalk, we will benefit from a wealth of insight and experience that will support us in growing our platform in the US and expanding our clinical and commercial evidence base.
“It is great to be able to work with such supportive investors that make our lives so much easier.”
Cognetivity tech could revolutionise concussion detection
Having established itself in early-stage dementia, CognICA is now being used in a new concussion in sport study
A new study into concussion in sport will use the pioneering cognitive testing platform developed by Cognetivity to identify changes in brain health through repeated head impacts.
The research will see Cognetivity partner with Durham University and sports tech firm My Sports Wellbeing to look at concussions at all levels of sport, from high performance to community level.
Data will be collected through the CognICA platform, the groundbreaking AI technology developed by Cognetivity which has helped to revolutionise early-stage dementia testing and is now moving into new applications for its use, including concussion.
Professor Karen Hind from Durham University and her team will use the tool to detect concussion and investigate changes in relation to repeated sub concussions.
The goal of the study is to investigate the CognICA tool’s effectiveness in identifying changes in cognitive health due to concussion and repeated head impacts.
Up to 3.8million athletes sustain concussions annually, with statistics showing that between 56 and 89 per cent of concussions are missed or misdiagnosed, which often leads to the mismanagement of patients who are affected.
Through the use of the CognICA platform, which has proven its efficacy in dementia and its ability to detect small changes in cognition, Cognetivity believes it can have a key role to play in concussion and enable better outcomes for athletes of all levels.
“We are excited to work with Durham University and My Sports Wellbeing to understand more about the cognitive impact of concussions in sports and how CognICA can contribute to timely diagnosis and therefore better treatment and management of this serious global issue,” said Dr Sina Habibi, co-founder and CEO of Cognetivity.
“Improving assessment, treatments and care to elevate the overall lives of patients with brain injuries and cognitive impairments is a top priority at Cognetivity and we are hopeful that the study will yield important results to help us achieve that goal.”
Prof Hind is a prominent name in athlete health and wellbeing, and led the first independent study into the health of retired professional rugby players.
“We’re very excited to be working on this study. Cognetivity’s unique technology represents a promising way to assess cognitive health in athletes at risk of concussion, post concussion and in relation to sub-concussions,” she said.
“This study is part of our overall programme of research through which we seek to investigate and provide strategies to improve athlete health and welfare.”
MotusAcademy launches to advance rehab tech globally
MotusAcademy will advance knowledge sharing around rehab and assistive technologies, with plans already in place to expand on a global scale
The pioneering MotusAcademy has been formally launched to advance knowledge sharing of rehabilitative and assistive technologies, with plans already in place to expand further on a global scale.
The platform is dedicated to promoting continuing development and education in rehabilitation robotics, bringing together leaders in their field internationally for the advancement of the sector.
MotusAcademy, based in Zurich, Switzerland, has partnered with the International Industry Society of Advanced Rehabilitation Technology (IISART); the MINT Academy, created by Hobbs Rehabilitation in the UK; and the European Center of Neurosciences in Spain.
Now set to advance its ambitions further, MotusAcademy will establish its Asia Pacific Hub in Singapore by June 2022, with hubs also planned for North America, South America, the Middle East and Africa.
The platform offers educational resources which are freely available for the advancement of rehabilitative and assistive technology, supported by a minimum of four educational seminars held every year by each of the hubs.
MotusAcademy will also launch an official publication, the Journal of Rehabilitation Methods and Technologies (JRMT), which aims to be the leading journal to focus on emerging rehabilitative and assistive methods and technologies.
To mark its official launch, founding members attended a virtual event to celebrate the occasion.
The event featured leading names in rehab tech globally, including newly-elected MotusAcademy President, Professor Robert Riener, director of the Sensory-Motor-Systems Lab at ETH Zürich; Vice President, Professor Jose Pons, director of the Legs+Walking Lab at Shirley Ryan AbilityLab; and Zen Koh, incoming President of IISART and Co-Founder of Fourier Intelligence.
The scientific advisory board for MotusAcademy is represented by members of the GReAT network.
“The creation and formal launch of MotusAcademy marks a significant step forward in the fast-growing area of rehabilitative and assistive technologies, uniting global partners who share a vision to work together to improve lives of patients around the world,” says Professor Riener.
“As we create new hubs in more international locations, we will expand and grow knowledge and promote education even further.
“This is a global mission and we want to work as widely as possible. We look forward to collaborating with like-minded partners to jointly promote the advancement of this field.”
Zen Koh says: “Education is central to the development of rehabilitation robotics, and through MotusAcademy, we are dedicated to promoting this across the world, to people in a range of professions at all stages of their careers – whether they are engineering students or medical professionals, continued development is crucial to achieving the full potential of this sector.
“Collaboration is how we can collectively achieve success, and ultimately deliver the best possible outcomes for patients, so we are very pleased to be able to share MotusAcademy and its resources with the world.
“By working together, we can deliver positive change and realise what we can achieve in advanced rehabilitation robotics.”
More details on MotusAcademy can be found at www.motusacademy.org
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