Rosa Rademakers

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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. [1] Her neurodegenerative diseases of focus include "Alzheimer's disease (AD), frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS)." [1] 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. [1] 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. [2]

Contents

Scientific research focus areas

Rademakers has researched mutations within genetic regulators of progranulin (GRN), which can cause early-onset dementia. She worked to develop a test to identify carriers of this mutation. [1] This blood test identifies mutations in order to detect and understand the gene's regulation. [3]

Her lab has also researched a mutation within the C9orf72 gene that contributes to the development of ALS and FTD. [1] Her research discovered that this is the genetic basis for a majority of ALS and FTD cases. [4] She received the 2016 Potamkin Prize based on this research. [3]

Rademakers is working on research of causal genes and disease mechanisms of early-onset Alzheimer's disease. Her research team aims to sequence parts of the genome of patients with the disease in order to identify novel potential causes. [1] She has also worked to sequence genes related to FTD. [5]

Rademakers is also researching tau protein accumulation by whole-genome sequencing of families. [1]

Notable professional achievements

Awards and honors

Related Research Articles

<span class="mw-page-title-main">Frontotemporal dementia</span> Types of dementia involving the frontal or temporal lobes

Frontotemporal dementia (FTD), frontotemporal degeneration disease, or frontotemporal neurocognitive disorder encompasses several types of dementia involving the progressive degeneration of the brain's 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, disinhibition, apathy, blunting of emotions, and deficits in both expressive and receptive language. Signs and symptoms tend to appear in late adulthood, typically between the ages of 45 and 65. Men and women appear to be equally affected. FTD is the second most prevalent type of early onset dementia after Alzheimer's disease. Currently, there is no cure, but there are treatments that help alleviate symptoms.

<span class="mw-page-title-main">Neurodegenerative disease</span> Central nervous system disease

A neurodegenerative disease is caused by the progressive loss of structure or function of neurons, in the process known as neurodegeneration. Such neuronal damage may ultimately involve cell 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.

Christine Van Broeckhoven is a Belgian molecular biologist and professor in Molecular genetics at the University of Antwerp. She is also leading the VIB Department of Molecular Genetics, University of Antwerp of the Flanders Institute for Biotechnology (VIB). Christine Van Broeckhoven does research on Alzheimer dementia, bipolar mental disorders and other neurological diseases. Since 1983 she has had her own laboratory for molecular genetics at the University of Antwerp, and since 2005 is focussing her research on neurodegenerative brain diseases. She is an associate editor of the scientific journal Genes, Brain and Behavior.

The Potamkin Prize for Research in Pick's, Alzheimer's, and Related Diseases was established in 1988 and is sponsored by the American Academy of Neurology. The prize is funded through the philanthropy of the Potamkin Foundation. The prize is awarded for achievements on emerging areas of research in Pick's disease, Alzheimer's disease and other dementias.

Sir John Anthony Hardy is a human geneticist and molecular biologist at the Reta Lila Weston Institute of Neurological Studies at University College London with research interests in neurological diseases.

<span class="mw-page-title-main">SORL1</span> Protein-coding gene in the species Homo sapiens

Sortilin-related receptor, L(DLR class) A repeats containing is a protein that in humans is encoded by the SORL1 gene.

<span class="mw-page-title-main">TMEM106B</span> Protein-coding gene in the species Homo sapiens

Transmembrane protein 106B is a protein that is encoded by the TMEM106B gene. It is found primarily within neurons and oligodendrocytes in the central nervous system with its subcellular location being in lysosomal membranes. TMEM106B helps facilitate important functions for maintaining a healthy lysosome, and therefore certain mutations and polymorphisms can lead to issues with proper lysosomal function. Lysosomes are in charge of clearing out mis-folded proteins and other debris, and thus, play an important role in neurodegenerative diseases that are driven by the accumulation of various mis-folded proteins and aggregates. Due to its impact on lysosomal function, TMEM106B has been investigated and found to be associated to multiple neurodegenerative diseases.

John Quinn Trojanowski was an American academic research neuroscientist specializing in neurodegeneration. He and his partner, Virginia Man-Yee Lee, MBA, Ph.D., are noted for identifying the roles of three proteins in neurodegenerative diseases: tau in Alzheimer's disease, alpha-synuclein in Parkinson's disease, and TDP-43 in Amyotrophic Lateral Sclerosis (ALS) and frontotemporal degeneration.

Early-onset Alzheimer's disease (EOAD), also called younger-onset Alzheimer's disease (YOAD), is Alzheimer's disease diagnosed before the age of 65. It is an uncommon form of Alzheimer's, accounting for only 5–10% of all Alzheimer's cases. About 60% have a positive family history of Alzheimer's and 13% of them are inherited in an autosomal dominant manner. Most cases of early-onset Alzheimer's share the same traits as the "late-onset" form and are not caused by known genetic mutations. Little is understood about how it starts.

<span class="mw-page-title-main">Gladstone Institutes</span>

Gladstone Institutes is an independent, non-profit biomedical research organization whose focus is to better understand, prevent, treat and cure cardiovascular, viral and neurological conditions such as heart failure, HIV/AIDS and Alzheimer's disease. Its researchers study these diseases using techniques of basic and translational science. Another focus at Gladstone is building on the development of induced pluripotent stem cell technology by one of its investigators, 2012 Nobel Laureate Shinya Yamanaka, to improve drug discovery, personalized medicine and tissue regeneration.

<span class="mw-page-title-main">Andrew Singleton</span> British neurogeneticist

Andrew B. Singleton is a British neurogeneticist currently working in the USA. He was born in Guernsey, the Channel Islands in 1972, where he lived until he was 18 years old. His secondary education was conducted at the Guernsey Grammar School. He earned a first class degree in Applied Physiology from Sunderland University and his PhD in neuroscience from the University of Newcastle upon Tyne where he studied the genetics of Alzheimer's disease and other dementias at the Medical Research Council (MRC) Neurochemical Pathology Unit. He moved to the United States in 1999, where he began working at the Mayo Clinic in Jacksonville, Florida studying the genetic basis of Parkinson's disease, ataxia, and dystonia. He moved to the National Institutes of Health in 2001 to head the newly formed Molecular Genetics unit within the Laboratory of Neurogenetics. In 2006 he took over as Chief of the Laboratory of Neurogenetics and became an NIH Distinguished Investigator in the intramural program at the National Institute on Aging (NIA) in 2017. In 2020 he stepped down as the Chief of the Laboratory of Neurogenetics and became the Acting Director of the newly formed Center for Alzheimer's and Related Dementias at the NIA. In 2021 he became the Director of CARD.

<span class="mw-page-title-main">Michel Goedert</span> Luxembourgish-British neuroscientist

Michel Goedert FRS, FMedSci is a Luxembourgish-British neuroscientist and former Head of Neurobiology, at the MRC Laboratory of Molecular Biology.

<span class="mw-page-title-main">C9orf72</span> Protein-coding gene in the species Homo sapiens

C9orf72 is a protein which in humans is encoded by the gene C9orf72.

<span class="mw-page-title-main">Giovanna Mallucci</span> British neuroscientist

Giovanna Rachele Mallucci is van Geest Professor of Clinical Neurosciences at the University of Cambridge in England and associate director of the UK Dementia Research Institute at the University of Cambridge. She is a specialist in neurodegenerative diseases.

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.

<span class="mw-page-title-main">Rahul Desikan</span> Indian-American neuroscientist and neuroradiologist (1978–2019)

Rahul Desikan was an Indian-American neuroscientist and neuroradiologist. He was an Assistant Professor of Radiology & Biomedical Imaging, Neurology and Pediatrics at the University of California, San Francisco, and co-director of Laboratory for Precision Neuroimaging. Desikan's achievements became publicly known in a Washington Post article detailing his lifelong commitment to preventing and treating Alzheimer's disease and his continuing work as a scientist living with Amyotrophic lateral sclerosis (ALS). Desikan was vocal about the need for increased awareness and research funding for ALS, and voiced his unique perspective as both ALS researcher and ALS patient in op-ed articles appearing in a regular column in the Washington Post as well as in the San Francisco Chronicle and Scientific American.

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.

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.

<span class="mw-page-title-main">Experimental models of Alzheimer's disease</span>

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Gerard David Schellenberg is an academic neuropathologist who specializes in the research of Alzheimer's disease. He is the director of Penn Neurodegeneration Genomics Center as well as a professor of Pathology and Laboratory Medicine at the University of Pennsylvania. He is a leading contributor to Alzheimer's disease research.

References

  1. 1 2 3 4 5 6 7 "Rosa Rademakers, Ph.D." Mayo Clinic. Retrieved 2020-04-20.
  2. ↑ Patton, Charlie. "Mayo Clinic researcher honored with prestigious award". The Florida Times-Union. Retrieved 2020-05-09.
  3. 1 2 3 4 Punksy, Kevin (2016-04-05). "Florida Scientist to Receive International Award for Advances in Dementia Research". Mayo Clinic. Retrieved 2020-04-20.
  4. ↑ Allen, Heather; Beggs, Kathleen; Cleary, Stuart; Dibranon, Shelley; Durham, Heather; Findlater, Karen; Forseth, Nancy; Hall, Karen; Libramonte, Jennifer (2012). A Manual for People Living with ALS (PDF). Douglas McKim, Leann Merla,Gwyneth Moe, Lorraine Papineau, Brigitte Poirier, Nicole Shuckett, Amy Shuster. ALS Society of Canada.
  5. ↑ "11th ICFTD Meeting in Sydney Sorts Out Clinical Subtypes | ALZFORUM". www.alzforum.org. Retrieved 2020-05-09.
  6. ↑ "Rosa Rademakers Inventions, Patents and Patent Applications - Justia Patents Search". patents.justia.com. Retrieved 2020-04-20.
  7. ↑ "Publications - Mayo Clinic". www.mayo.edu. Retrieved 2020-04-20.
  8. ↑ "NCRAD - Executive Committee". ncrad.iu.edu. Retrieved 2020-05-09.
  9. ↑ "Rosa Rademakers, Ph.D." National Institute of Neurological Disorders and Stroke. Retrieved 2020-04-20.
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