Orla Hardiman (BSc MB BCh BAO MD FRCPI FAAN FTCD (Fellow of Trinity College Dublin) MRIA (Elected member of the Royal Irish Academy) is an Irish consultant neurologist. [1] 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. [2] Hardiman has become a prominent advocate for neurological patients in Ireland, and for patients within the Irish health system generally. [3] She was a co-founder of the Neurological Alliance of Ireland, an umbrella organisation for over 24 advocacy groups in Ireland. [4]
Hardiman attended University College Dublin (UCD) as an undergraduate medical student. She completed an intercalated BSc in physiology in 1980 and received her medical degree in 1983. [5] After graduation from UCD, Hardiman undertook a one-year internship at St. Vincent's University Hospital, Dublin. From 1984 to 1986, she trained as a senior house officer in neurology and neuropathology at St. Lawrence's Hospital, Dublin.
In 1986, Hardiman began a three-year neurology residency under the Harvard Longwood Area Neurology Training Program at Brigham and Women's Hospital, Beth Israel Hospital and Children's Hospital Boston. In 1989, she undertook a two-year clinical and research fellowship in neuromuscular diseases under Dr. Robert H. Brown Jr. at the Department of Neurology, Massachusetts General Hospital and Harvard Medical School.
Upon completion of her fellowship, Hardiman took up a position as a Newman Scholar at the Department of Physiology in UCD. In 1992, Hardiman obtained her medical doctorate (MD) from UCD. She became a member of the Royal College of Physicians of Ireland in 1993 and became a fellow of the college in 2001. [5] In 1993 she became director of the ALS and neuromuscular clinics at Beaumont Hospital. In 1994 she was appointed as a tenured lecturer at the UCD Department of Physiology. She was appointed to Beaumont Hospital as the 11th Consultant Neurologist in Ireland in 1996. and appointed as Professor of Neurology in Trinity College Dublin in 2014.
Hardiman was a Health Research Board clinician scientist between 2007 and 2017. [6] Her main research interests are amyotrophic lateral sclerosis (motor neurone disease) and related motor neuron degenerations, phenotype/genotype correlations, population genetics biomarker development and clinical epidemiology. [6] She is a co-founder of the Latin American Epidemiologic Consortium in ALS (LAENALS), which was funded by the US CDC. She is co-chair of the ENCALS and TRICALS Consortium. [7] She is the Lead investigator of the international academic/industry collaboration PRECISION ALS (www.precisionals.ie). [8] Her work is funded by Science Foundation Ireland and the Health Research Board. [8] Along with RCSI research fellow Dr. Matt Greenway, Hardiman discovered angiogenin, a novel gene which may be responsible for motor neuron disease. [9] The discovery led to the development of an international research programme with Harvard Medical School, institutes in the United Kingdom and researchers at RCSI. [9] Since 2008 she has been the editor in chief of the field journal "Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration" [10] and with Colin P Doherty is Co-Editor of the textbook "Neurodegenerative Disorders". [11]
In 2004, Hardiman received the first Palatucci Advocacy Leader of the Year Award from the American Academy of Neurology. [12] The selection committee commended her "tireless advocacy efforts on behalf of the neurology profession and patients" in Ireland. [13] In 2009, she was awarded the Sheila Essey Award for ALS research by the American Academy of Neurology and the American ALS Association [14] as well as the International ALS/MND Alliance Forbes Norris Award. [15] In Ireland, she was honoured as the Science Foundation Ireland Researcher of the Year in 2022. [16] In the same year, she received the Trinity College Dublin Impact Award, [4] and in 2023, the Health Research Board Research Impact Award. She is also the 2021 recipient of the Tom Connor Distinguished Neuroscientist Award. [17] She is a fellow of Trinity College Dublin, and a member of the Royal Irish Academy.
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.
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.
A neurodegenerative disease is caused by the progressive loss of neurons, in the process known as neurodegeneration. Neuronal damage may also ultimately result in their death. Neurodegenerative diseases include amyotrophic lateral sclerosis, multiple sclerosis, Parkinson's disease, Alzheimer's disease, Huntington's disease, multiple system atrophy, tauopathies, and prion diseases. Neurodegeneration can be found in the brain at many different levels of neuronal circuitry, ranging from molecular to systemic. Because there is no known way to reverse the progressive degeneration of neurons, these diseases are considered to be incurable; however research has shown that the two major contributing factors to neurodegeneration are oxidative stress and inflammation. Biomedical research has revealed many similarities between these diseases at the subcellular level, including atypical protein assemblies and induced cell death. These similarities suggest that therapeutic advances against one neurodegenerative disease might ameliorate other diseases as well.
Lytico-bodig (also Lytigo-bodig) disease, Guam disease, or amyotrophic lateral sclerosis-parkinsonism-dementia complex (ALS-PDC) is a neurodegenerative disease of uncertain etiology endemic to the Chamorro people of the island of Guam in Micronesia. Lytigo and bodig are Chamorro language words for two different manifestations of the same condition. ALS-PDC, a term coined by Asao Hirano and colleagues in 1961, reflects its resemblance to amyotrophic lateral sclerosis (ALS), Parkinson's disease, and Alzheimer's disease.
β-Methylamino-L-alanine, or BMAA, is a non-proteinogenic amino acid produced by cyanobacteria. BMAA is a neurotoxin. Its potential role in various neurodegenerative disorders is the subject of scientific research.
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.
Mecasermin rinfabate, also known as rhIGF-1/rhIGFBP-3, is a drug consisting of recombinant human insulin-like growth factor 1 (IGF-1) and recombinant human insulin-like growth factor binding protein-3 (IGFBP-3) which is used for the treatment of amyotrophic lateral sclerosis.
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.
Amyotrophic lateral sclerosis (ALS), also known as motor neurone disease (MND) or Lou Gehrig's disease (LGD) 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.
Pridopidine is an orally administrated small molecule investigational drug. Pridopidine is a selective and potent Sigma-1 Receptor agonist. It is being developed by Prilenia Therapeutics and is currently in late-stage clinical development for Huntington's disease (HD) and amyotrophic lateral sclerosis (ALS).
Christopher Edward Dennistoun Shaw 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.
Research on amyotrophic lateral sclerosis (ALS) has focused on animal models of the disease, its mechanisms, ways to diagnose and track it, and treatments.
Barry Festoff is a board-certified neurologist, Professor of Neurology at the University of Kansas Medical Center and the founder of pHLOGISTIX, a neurodiagnostic and therapeutic biotech company.
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.
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.
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.
Crisdesalazine is a microsomal prostaglandin E2 synthase-1 (mPGES-1) inhibitor and free radical scavenger which is under development for the treatment of Alzheimer's disease, amyotrophic lateral sclerosis (ALS), depressive disorders, Parkinson's disease, and spinal muscular atrophy. It was also under development for the treatment of arthritis, diabetes, pain, and pancreatitis, but development for these indications was discontinued. Crisdesalazine is also approved under the brand name GedaCure for treatment of dogs with canine cognitive dysfunction.