Rosa Rademakers is a Dutch neurogeneticist and professor within the Department of Neuroscience at the

Mayo Clinic Mayo Clinic () is a Nonprofit organization, private American Academic health science centre, academic Medical centers in the United States, medical center focused on integrated health care, healthcare, Mayo Clinic College of Medicine and Science ...

. 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 Alzheimer's disease (AD) is a neurodegenerative disease and the cause of 60–70% of cases of dementia. The most common early symptom is difficulty in remembering recent events. As the disease advances, symptoms can include problems wit ...

(AD),

frontotemporal dementia Frontotemporal dementia (FTD), also called frontotemporal degeneration disease or frontotemporal neurocognitive disorder, encompasses several types of dementia involving the progressive degeneration of the brain's frontal lobe, frontal and tempor ...

(FTD) and

amyotrophic lateral sclerosis Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease (MND) or—in the United States—Lou Gehrig's disease (LGD), is a rare, Terminal illness, terminal neurodegenerative disease, neurodegenerative disorder that results i ...

(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 The University of Antwerp () is a major Belgian university located in the city of Antwerp. The official abbreviation is ''UAntwerp''. The University of Antwerp has about 20,000 students, which makes it the third-largest university in Flanders. ...

. 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.

Scientific research focus areas

Rademakers has researched mutations within genetic regulators of

progranulin Granulin is a protein that in humans is encoded by the ''GRN'' gene. Each granulin protein is cleaved from the precursor progranulin, a 593 amino-acid-long and 68.5 kDa protein. While the function of progranulin and granulin have yet to be deter ...

(GRN), which can cause early-onset dementia. She worked to develop a test to identify carriers of this mutation. This blood test identifies mutations in order to detect and understand the gene's regulation. Her lab has also researched a mutation within the ''

C9orf72 C9orf72 (chromosome 9 open reading frame 72) is a protein which in humans is encoded by the gene ''C9orf72''. The human ''C9orf72'' gene is located on the short (p) arm of chromosome 9 open reading frame 72, from base pair 27,546,546 to base pa ...

'' gene that contributes to the development of ALS and FTD. Her research discovered that this is the genetic basis for a majority of ALS and FTD cases. She received the 2016 Potamkin Prize based on this research. 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. She has also worked to sequence genes related to FTD. Rademakers is also researching

tau protein The tau proteins (abbreviated from tubulin associated unit) form a group of six highly soluble protein isoforms produced by alternative splicing from the gene ''MAPT'' (microtubule-associated protein tau). They have roles primarily in maintainin ...

accumulation by whole-genome sequencing of families.

Notable professional achievements

* Rademakers has filed six patents for detection and treatment of dementia * Rademakers has been a contributing author on over 300 peer-reviewed academic journal articles *Committee Member of the National Centralized Repository for Alzheimer's Disease and Related Dementias Executive Committee *Mildred A. and Henry Uihlein II Professor of Medical Research at the Mayo Clinic College of Medicine

Awards and honors

*2016

Potamkin Prize 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 awarde ...

* 2017 Research Program Award (R35) from the

National Institute of Neurological Disorders and Stroke The National Institute of Neurological Disorders and Stroke (NINDS) is a part of the U.S. National Institutes of Health (NIH). It conducts and funds research on brain and nervous system disorders and has a budget of just over US$2.03 billion. The ...

References

{{DEFAULTSORT:Rademakers, Rosa Living people Year of birth missing (living people) University of Antwerp alumni Mayo Clinic people American women neuroscientists American neuroscientists Dutch women neuroscientists Dutch geneticists American medical researchers Dutch medical researchers Alzheimer's disease researchers 21st-century American women 21st-century Dutch women scientists Dutch emigrants to the United States