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Motor neuron diseases or motor neurone diseases (MNDs) are a group of rare neurodegenerative disorders that selectively affect motor neurons, the cells which control voluntary muscles of the body. They include amyotrophic lateral sclerosis (ALS), progressive bulbar palsy (PBP), pseudobulbar palsy, progressive muscular atrophy (PMA), primary lateral sclerosis (PLS), spinal muscular atrophy (SMA) and monomelic amyotrophy (MMA), as well as some rarer variants resembling ALS.
Eva Lucille Feldman, M.D., Ph.D., F.A.A.N., F.A.N.A. is an American physician-scientist and one of the world’s leading authorities on neurodegenerative disease. Currently, she serves as the Russell N. DeJong Professor of Neurology at the University of Michigan, as well as Director of the NeuroNetwork for Emerging Therapies and ALS Center of Excellence at Michigan Medicine. She was also recently named the James W. Albers Distinguished University Professor of Neurology.
Orla Hardiman is an Irish consultant neurologist. She was appointed Professor of Neurology by Trinity College University of Dublin in 2014, where she heads the Academic Unit of Neurology, housed in Trinity Biomedical Sciences Institute. She is a HRB Clinician Scientist and Consultant Neurologist at the National Neuroscience Center of Ireland at Beaumont Hospital, Dublin. She leads a team of 30 researchers focussing on clinical and translational aspects of amyotrophic lateral sclerosis and related neurodegenerations. Hardiman has become a prominent advocate for neurological patients in Ireland, and for patients within the Irish health system generally. She is co-Founder of the Neurological Alliance of Ireland, and Doctors Alliance for Better Public Healthcare. In the past, she established the bi-annual Diaspora Meeting, a forum for Irish neurologists based overseas to present and discuss their research findings with neurologists working in Ireland.
Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease (MND) or Lou Gehrig's disease, is a neurodegenerative disease that results in the progressive loss of motor neurons that control voluntary muscles. ALS is the most common form of the motor neuron diseases. Early symptoms of ALS include stiff muscles, muscle twitches, and gradual increasing weakness and muscle wasting. Limb-onset ALS begins with weakness in the arms or legs, while bulbar-onset ALS begins with difficulty speaking or swallowing. Around half of people with ALS develop at least mild difficulties with thinking and behavior, and about 15% develop frontotemporal dementia. Motor neuron loss continues until the ability to eat, speak, move, and finally the ability to breathe is lost with the cause of early death usually being respiratory failure.
Sean Forrester Scott was a self-educated disease activist and researcher, filmmaker, innovator, entrepreneur and until the time of his death, the president of the ALS Therapy Development Institute, the world's largest amyotrophic lateral sclerosis research center. Scott himself was diagnosed with ALS in 2008 at the age of 38.
Talampanel is a drug which has been investigated for the treatment of epilepsy, malignant gliomas, and amyotrophic lateral sclerosis (ALS).
Don W. Cleveland is an American cancer biologist and neurobiologist.
Christopher Edward Dennistoun Shaw MBChB, MD, FRACP, FRCP (Hon), FMedSci, FANA is Professor of Neurology and Neurogenetics at the Institute of Psychiatry, Psychology and Neuroscience, King's College London. He is also Head of the Department of Basic and Clinical Neuroscience, Director of the Maurice Wohl Clinical Neuroscience Institute at King's College London and an Honorary Consultant Neurologist and Neurogeneticist at King's College Hospital. His major research interest is in the genetic, molecular and cellular basis of motor neuron diseases such as amyotrophic lateral sclerosis (ALS).
Amyotrophic Lateral Sclerosis (ALS), is a neurodegenerative disease that typically affects adults around 54-67 years of age, although anyone can be diagnosed with the disease. People diagnosed with ALS live on average 2–4 years after diagnosis due to the quick progression of the disease. The progression and severity of ALS is rated by doctors on the ALS Functional Rating Scale, which has been revised and is referred to as ALSFRS-R.
There are more than 25 genes known to be associated with amyotrophic lateral sclerosis (ALS) as of June 2018, which collectively account for about 70% of cases of familial ALS (fALS) and 10% of cases of sporadic ALS (sALS). About 5–10% of cases of ALS are directly inherited. Overall, first-degree relatives of an individual with ALS have a 1% risk of developing ALS. ALS has an oligogenic mode of inheritance, meaning that mutations in two or more genes are required to cause disease.
Research on amyotrophic lateral sclerosis (ALS) has focused on animal models of the disease, its mechanisms, ways to diagnose and track it, and treatments.
Stephen George Waxman is an American neurologist and neuroscientist. He served as Chairman of the Department of Neurology at Yale School of Medicine, and Neurologist-in-Chief at Yale-New Haven Hospital from 1986 until 2009. As of 2018, he is the Bridget Flaherty Professor of Neurology, Neurobiology, and Pharmacology at Yale University. He founded the Yale University Neuroscience & Regeneration Research Center in 1988 and is its Director. He previously held faculty positions at Harvard Medical School, MIT, and Stanford Medical School. He is also visiting professor at University College London. He is the editor-in-chief of The Neuroscientist and Neuroscience Letters.
C. Frank Bennett is an American pharmacologist. Bennett is currently the Senior Vice President of Research and Neurology Franchise Leader at Ionis Pharmaceuticals. He is a 2019 Breakthrough Prize winner in Life Sciences, which he shared with his collaborator Adrian R. Krainer for the development of an effective antisense oligonucleotide therapy for children with the neurodegenerative disease spinal muscular atrophy.
Bryan J. Traynor is a neurologist and a senior investigator at the National Institute on Aging, and an adjunct professor at Johns Hopkins University. Dr. Traynor studies the genetics of human neurological conditions such as amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). He led the international consortium that identified pathogenic repeat expansions in the C9orf72 gene as a common cause of ALS and FTD. Dr. Traynor also led efforts that identified other Mendelian genes responsible for familial ALS and dementia, including VCP, MATR3, KIF5A, HTT, and SPTLC1.
Nancy M. Bonini is an American neuroscientist and geneticist, best known for pioneering the use of Drosophila as a model organism to study neurodegeneration of the human brain. Using the Drosophila model approach, Bonini's laboratory has identified genes and pathways that are important in the development and progression of neurodegenerative diseases such as Amyotrophic lateral sclerosis, Alzheimer's disease, and Parkinson's disease, as well as aging, neural injury and regeneration, and response to environmental toxins.
Rosa Rademakers, Ph.D., is a neurogeneticist and professor within the Department of Neuroscience at the Mayo Clinic. Her research centers on the genetic basis of neurodegenerative diseases, such as identifying causal genes and their function, exploring familial risk factors, and the mechanism of the degeneration. Her neurodegenerative diseases of focus include "Alzheimer's disease (AD), frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS)." She received a Bachelor of Arts in Biology, a Master of Arts in Biochemistry, and a Ph.D. in Science, all from the University of Antwerp. Originally from the Netherlands, she came to the Mayo Clinic in 2005 for a post-doctoral fellowship, and in 2007 she was given a lab director position.
Merit Cudkowicz is an American neurologist and neuroscientist who studies amyotrophic lateral sclerosis (ALS). Cudkowicz is Julieanne Dorn Professor of Neurology at Harvard Medical School, director of the ALS clinic and the Neurological Clinical Research Institute at Massachusetts General Hospital (MGH) and chair of the Department of Neurology at MGH. Cudkowicz has led several large scale collaborations and clinical trials to test novel treatments for ALS and as of 2020 researches ways to detect early biomarkers of ALS to improve diagnosis.
Ammar Al-Chalabi is Professor of Neurology and Complex Disease Genetics at the Maurice Wohl Clinical Neuroscience Institute at King's College London, where he is also head of the Department of Basic and Clinical Neuroscience and Director of the King's Motor Neuron Disease Research Centre. In 2020, he received the Forbes Norris Award from the International Alliance Of Als/Mnd Associations and was a co-winner of the Healey Center International Prize for Innovation in ALS. His other awards include the Sheila Essey Award from the American Academy of Neurology and the Charcot Young Investigator Award from the Motor Neurone Disease Association. In 2021 he was appointed Senior Investigator at the National Institute for Health Research (NIHR).
Ava Easton is a health scientist and researcher who specialises in encephalitis, acquired brain injury and narrative medicine, and is considered a world expert in her field of Encephalitis patient outcomes and quality of life. She is the current Chief Executive of The Encephalitis Society, a non-profit organisation which provides support and resources for those affected by the neurological disease of Encephalitis, and collaborates with various organisations on research into the disease.
Catherine Lubetzki is a French neurologist who is a professor at Sorbonne University. She is head of the Department of Neurological Diseases at the Pitié-Salpêtrière Hospital, where she coordinates the Salpêtrière Multiple Sclerosis clinical research centre. Her research involves the physiology of multiple sclerosis, and the identification of the interactions between myelin and axons. In 2019, she was awarded the Multiple Sclerosis International Federation Charcot Award.
References
- ↑ "Sheila Essey Award: An Award for ALS Research | American Academy of Neurology®". tools.aan.com. Retrieved 2019-06-24.
- ↑ "The ALS Association". www.alsa.org. Retrieved 2019-06-24.
- ↑ GmbH, finanzen net. "Honoring Leaders in the Fight to Defeat Brain Disease | Markets Insider". markets.businessinsider.com. Retrieved 2019-07-27.
- ↑ Inc, Encyclopaedia Britannica (2012-03-01). Britannica Book of the Year 2012. Encyclopaedia Britannica, Inc. ISBN 9781615356188.
{{cite book}}:|last=has generic name (help) - ↑ "American Academy Of Neurology Honors Dr. Serge Przedborski For Breakthroughs In Als". Columbia University Irving Medical Center. 2002-04-15. Retrieved 2019-07-27.
- ↑ "Milestones". The Lancet Neurology. 6 (6): 483. 2007-06-01. doi: 10.1016/S1474-4422(07)70120-5 . ISSN 1474-4422. S2CID 208783434.
- ↑ "Leading Irish Neurologist Receives International Award for Motor Neurone Disease Research". Trinity News and Events. 2009-04-28. Retrieved 2019-07-27.
- ↑ "Director of Cedars-Sinai Regenerative Medicine Institute to Receive Prestigious ALS Research Award from American Academy of Neurology" . Retrieved 2019-07-27.
- ↑ "Awards Honor Christopher Shaw, Remember Richard Olney | ALZFORUM". www.alzforum.org. Retrieved 2019-07-27.
- ↑ "The ALS Association and AAN Announce 2013 Sheila Essey Award for ALS Research". www.alsa.org. Retrieved 2019-07-27.
- ↑ "Jeremy Shefner, M.D., Ph.D. receives the Sheila Essey Award" (PDF).
- ↑ "Robert P. Bowser PhD honored by The American Academy of Neurology and The ALS Association – AZBio" . Retrieved 2019-07-27.
- ↑ "Two ALS Researchers Win Sheila Essey Award". www.prnewswire.com. Retrieved 2019-07-27.
- ↑ "American Academy of Neurology Announces 2016 Research Award Winners". Sleep Review. Retrieved 2019-07-27.
- ↑ "Miller receives Essey award from neurological society". www.publicnow.com. Retrieved 2019-07-27.