Ellen Sidransky is an American pediatrician and clinical geneticist in the Medical Genetics Branch of the National Human Genome Research Institute. She is chief of the Molecular Neurogenetics Section.

Education

Sidransky graduated

magna cum laude Latin honors are a system of Latin phrases used in some colleges and universities to indicate the level of distinction with which an academic degree has been earned. The system is primarily used in the United States. It is also used in some So ...

from

Brandeis University , mottoeng = "Truth even unto its innermost parts" , established = , type = Private research university , accreditation = NECHE , president = Ronald D. Liebowitz , pro ...

in 1977 with a B.A. in biology, and received a M.D. in 1981 from Tulane University School of Medicine. She then trained in pediatrics at

Lurie Children's Hospital Ann & Robert H. Lurie Children's Hospital of Chicago, formerly Children's Memorial Hospital and commonly known as Lurie Children's, is a nationally ranked pediatric acute care children's hospital located in Chicago, Illinois. The hospital has 3 ...

, and completed fellowship training in clinical genetics at the

National Institutes of Health The National Institutes of Health, commonly referred to as NIH (with each letter pronounced individually), is the primary agency of the United States government responsible for biomedical and public health research. It was founded in the late ...

Genetics Training Program.

Career

Sidransky came to the National Institutes of Health in the late 1980s to learn molecular biology techniques. Sidransky has been a tenured investigator at NIH and a section chief since 2000. She is chief of the Molecular Neurogenetics Section and a pediatrician and clinical geneticist in the Medical Genetics Branch of the National Human Genome Research Institute.

Research

Sidransky's research includes both clinical and basic research aspects of Gaucher disease and Parkinson's disease, and her group first identified glucocerebrosidase as a risk factor for parkinsonism. She led two large international collaborative studies regarding the genetics of Parkinson's disease and dementia with Lewy bodies. Her current work also focuses on understanding the complexity encountered in "simple" Mendelian disorders, the association between Gaucher disease and parkinsonism and the development of small molecule chaperones as therapy for Gaucher disease and potentially parkinsonism. Sidransky directs two NIH clinical protocols, one evaluating patients with lysososmal storage disorders and the second prospectively studying patients and relatives with parkinsonism who carry mutations in ''GBA''. The Sidransky group uses a translational approach, integrating both clinical and basic sciences. Over the past two decades, the Sidransky group has established a bank of clinical data, samples and ongoing clinical protocols on GD, to enable a better understanding of the natural history, the correlation of genotype with phenotype, and the contribution of factors modifying this disorder. Focusing on GD, the group is poised to investigate the intricate relationships between clinical manifestations, metabolic defects and molecular mechanisms, and to tackle the challenge of identifying genetic modifiers. Although GD is classically divided into three types, the section's research has shown that there is actually a continuum of manifestation, and they have uncovered several unexpected phenotypes.

Awards and honors

In April 2019, Parkinson's awareness month,

Van Andel Institute Van Andel Institute (VAI) is a 501(c)(3) nonprofit biomedical research and science education organization in Grand Rapids, Michigan. VAI was founded by Jay and Betty Van Andel in 1996. The institute's research focuses on cancer epigenetics a ...

honored Sidransky with the Jay Van Andel Award for Outstanding Achievement in Parkinson's Disease Research.

References

{{DEFAULTSORT:Sidransky, Ellen Living people Year of birth missing (living people) Brandeis University alumni Tulane University School of Medicine alumni National Institutes of Health people 20th-century American physicians 21st-century American physicians American pediatricians Women pediatricians 20th-century American scientists 21st-century American scientists 20th-century American women scientists 21st-century American women scientists American women geneticists American geneticists 20th-century American women physicians 21st-century American women physicians