Chris E Shaw | |
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Born | Christopher Edward Dennistoun Shaw [1] 27 March 1960 [2] |
Alma mater | |
Spouse | Pinar Bagci [2] |
Children | one son; one daughter [2] |
Awards |
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Scientific career | |
Fields | |
Institutions | |
Doctoral advisor | Alastair Compston |
Website | kclpure |
Christopher Edward Dennistoun Shaw MBChB, MD, FRACP, FRCP (Hon), FMedSci, FANA [3] (born 1960) is Professor of Neurology and Neurogenetics at the Institute of Psychiatry, Psychology and Neuroscience, King's College London. [3] 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 [3] and an Honorary Consultant Neurologist and Neurogeneticist at King's College Hospital. [4] His major research interest is in the genetic, molecular and cellular basis of motor neuron diseases such as amyotrophic lateral sclerosis (ALS). [5] [6]
Shaw conducted his clinical training in general medicine and neurology in New Zealand. In 1992, he began his doctoral studies on Wellcome Trust Fellowship with Professor Alastair Compston at the University of Cambridge. [3]
Shaw moved to the Institute of Psychiatry (now Institute of Psychiatry, Psychology and Neuroscience) and started collaborating with Professor Nigel Leigh in 1995. [3] [4] [7] Research led by Shaw has identified mutations in two genes causing ALS, namely TARDBP [8] [9] and FUS. [10] [11]
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.
Frontotemporal dementia (FTD), or frontotemporal degeneration disease, or frontotemporal neurocognitive disorder, encompasses several types of dementia involving the progressive degeneration of frontal and temporal lobes. FTDs broadly present as behavioral or language disorders with gradual onsets. Common signs and symptoms include significant changes in social and personal behavior, apathy, blunting of emotions, and deficits in both expressive and receptive language. Currently, there is no cure for FTD, but there are treatments that help alleviate symptoms.
Frontotemporal lobar degeneration (FTLD) is a pathological process that occurs in frontotemporal dementia. It is characterized by atrophy in the frontal lobe and temporal lobe of the brain, with sparing of the parietal and occipital lobes.
Primary lateral sclerosis (PLS) is a very rare neuromuscular disease characterized by progressive muscle weakness in the voluntary muscles. PLS belongs to a group of disorders known as motor neuron diseases. Motor neuron diseases develop when the nerve cells that control voluntary muscle movement degenerate and die, causing weakness in the muscles they control.
Progressive muscular atrophy (PMA), also called Duchenne–Aran disease and Duchenne–Aran muscular atrophy, is a disorder characterised by the degeneration of lower motor neurons, resulting in generalised, progressive loss of muscle function.
Progressive bulbar palsy (PBP) is a medical condition. It belongs to a group of disorders known as motor neuron diseases. PBP is a disease that attacks the nerves supplying the bulbar muscles. These disorders are characterized by the degeneration of motor neurons in the cerebral cortex, spinal cord, brain stem, and pyramidal tracts. This specifically involves the glossopharyngeal nerve (IX), vagus nerve (X), and hypoglossal nerve (XII).
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.
RNA-binding protein FUS/TLS, also known as heterogeneous nuclear ribonucleoprotein P2 is a protein that in humans is encoded by the FUS gene.
TAR DNA-binding protein 43 is a protein that in humans is encoded by the TARDBP gene.
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 thirty researchers focusing 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 neurone disease (MND) or Lou Gehrig's disease, is a rare and terminal 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, gradual increasing weakness, and muscle wasting. Limb-onset ALS begins with weakness in the arms or legs, while bulbar-onset ALS begins with difficulty in 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 abilities to eat, speak, move, or, lastly, breathe are lost.
C9orf72 is a protein which in humans is encoded by the gene C9orf72.
Project MinE is an independent large scale whole genome research project that was initiated by 2 patients with amyotrophic lateral sclerosis and started on World ALS Day, June 21, 2013.
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.
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.
The Sheila Essey Award for ALS Research was established in 1996 and is sponsored by the American Academy of Neurology. The prize is funded through the philanthropy of the Essey family and the ALS Association. The award recognizes an individual who has made seminal research contributions in the search for the cause, prevention of, and cure for amyotrophic lateral sclerosis.
Elizabeth Mary Claire Fisher is a British geneticist and Professor at University College London. Her research investigates the degeneration of motor neurons during amyotrophic lateral sclerosis and Alzheimer's disease triggered by Down syndrome.
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.