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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.
Tom Maniatis, is an American professor of molecular and cellular biology. He is a professor at Columbia University, and serves as the Scientific Director and CEO of the New York Genome Center.
The American Academy of Neurology (AAN) is a professional society representing over 40,000 neurologists and neuroscientists. As a medical specialty society it was established in 1948 by A.B. Baker of the University of Minnesota to advance the art and science of neurology, and thereby promote the best possible care for patients with neurological disorders. It is headquartered in Minneapolis and maintains a health policy office in Washington, D.C.
Eva Lucille Feldman is an American physician-scientist who is a leading authority on neurodegenerative disease. 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 named the James W. Albers Distinguished University Professor of Neurology.
Superoxide dismutase [Cu-Zn] also known as superoxide dismutase 1 or hSod1 is an enzyme that in humans is encoded by the SOD1 gene, located on chromosome 21. SOD1 is one of three human superoxide dismutases. It is implicated in apoptosis, familial amyotrophic lateral sclerosis and Parkinson's disease.
Orla Hardiman (BSc MB BCh BAO MD FRCPI FAAN FTCD MRIA 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 leads a team of over 40 researchers focusing on clinical and translational aspects of amyotrophic lateral sclerosis and related neurodegenerations. She was the Health Service Executive National Clinical Lead for Neurology between 2019 and 2024. Hardiman has become a prominent advocate for neurological patients in Ireland, and for patients within the Irish health system generally. She was a co-founder of the Neurological Alliance of Ireland, an umbrella organisation for over 24 advocacy groups in Ireland.
Amyotrophic lateral sclerosis (ALS), also known as motor neurone disease (MND) or Lou Gehrig's disease in the United States, is a rare, terminal neurodegenerative disorder that results in the progressive loss of both upper and lower motor neurons that normally control voluntary muscle contraction. ALS is the most common form of the motor neuron diseases. ALS often presents in its early stages with gradual muscle stiffness, twitches, weakness, and wasting. Motor neuron loss typically continues until the abilities to eat, speak, move, and, lastly, breathe are all lost. While only 15% of people with ALS also fully develop frontotemporal dementia, an estimated 50% face at least some minor difficulties with thinking and behavior. Depending on which of the aforementioned symptoms develops first, ALS is classified as limb-onset or bulbar-onset.
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.
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 is a Dutch 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, researching 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).
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". 27 May 2015. Retrieved 2019-07-27.
- ↑ "Two ALS Researchers Win Sheila Essey Award". www.prnewswire.com (Press release). Retrieved 2019-07-27.
- ↑ "American Academy of Neurology Announces 2016 Research Award Winners". Sleep Review. 20 April 2016. Retrieved 2019-07-27.
- ↑ "Miller receives Essey award from neurological society". www.publicnow.com. Retrieved 2019-07-27.