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The Genetics of Alzheimer's Disease

Benjamine Liu and Alice Chen-Plotkin

articlehighlights

Alzheimer’s disease:

  • is a progressive neurodegenerative brain disease;
  • currently affects nearly 5 million Americans;
  • acts on the brain regions important in forming new memories, as well as planning, judgment, and thinking;
  • is primarily diagnosed by features observable in the brains of patients;
  • is a heritable disease that can be predicted, in terms of risk of developing the disease, by testing of a few key genes

May 2014

Introduction

Chances are, you already know someone with Alzheimer’s disease (AD); currently, an estimated 5 million Americans have the disease.1 If you don’t already know someone, chances are you eventually will as our population ages; nearly 20% of people ages 75-84, and nearly half of people older than 85 years of age, have AD.2 Indeed, the scope of the problem is so large, with future projections so dire, that President Obama recently announced a National Plan to fight AD, with the ambitious goal of developing effective prevention and treatment approaches for AD and related dementias by 2025.3

An estimated 5 million Americans are afflicted with Alzheimer’s disease.

This leads to some natural questions: What is Alzheimer’s disease? What causes Alzheimer’s disease? What can genetics—the study of genes, which are the modules by which instructions for specific traits are transmitted from parents to offspring—tell us about Alzheimer’s disease, both at the level of understanding the disease and at the level of understanding our individual risk factors?

Benjamine Liu is a computational biology and neuroscience student pursuing a DPhil at Oxford as a Rhodes Scholar. His research focuses on identifying biomarkers for neurological disorders such as Alzheimer’s and Parkinson’s disease using high throughput screening approaches. Ben received his MPhil in Computational Biology with Distinction from the Department of Applied Mathematics and Theoretical Physics at Cambridge University where he was a Paul Mellon Fellow at Clare College. He graduated Phi Beta Kappa from Yale with a degree in Molecular, Cellular, and Developmental Biology. He was awarded the Josephine de Karman Fellowship, the Goldwater Scholarship, and Yale College’s highest honor, the Alpheus Henry Snow Prize. His other interests include the ethical and policy implications of applying personalized medicine to neurodegenerative disorders and specifically, the role of predictive biomarkers as diagnostic and prognostic tools. Ben is one of Dr. Alice Chen-Plotkin’s students and he conducted his MPhil dissertation research in her lab.

Dr. Alice Chen-Plotkin is a neuroscientist and neurologist at the University of Pennsylvania. A Phi Beta Kappa graduate and English literature major at Harvard University, Chen-Plotkin began her scientific training as a Rhodes Scholar at Oxford University. She subsequently returned to Harvard for medical school and neurology training at the Massachusetts General Hospital and Brigham and Women’s Hospital. Since 2010, Chen-Plotkin has been an Assistant Professor of Neurology at the Perelman School of Medicine at the University of Pennsylvania. A physician-scientist, she runs a research group studying neurodegeneration and sees patients with neurodegenerative disorders. Her laboratory specializes in using unbiased approaches permitted by modern technology to generate leads in the investigation of neurodegenerative disorders, then following these leads downstream in mechanistic cell and molecular biological experiments. She has been the recipient of a Paul and Daisy Soros Fellowship for New Americans, a Burroughs Wellcome Fund Career Award for Medical Scientists, a Doris Duke Charitable Foundation Clinician Scientist Development Award, and the American Academy of Neurology Jon Stolk Award in Movement Disorders. She is married to the biologist Joshua Plotkin, and they have a son and a daughter.

The Genetics of Alzheimer's Disease

National Institutes of Health Alzheimer’s Disease Fact Sheet

Published by the National Institute on Aging, this comprehensive fact sheet includes information on diagnosing and treating Alzheimer’s, as well as ways to support families and caregivers.
http://www.nia.nih.gov/alzheimers/publication/alzheimers-disease-fact-sheet

Alzheimer’s Disease Overview: Mayo Clinic

Includes information on symptoms, tests and diagnoses, and treatment and support. Also provides an opportunity to subscribe to the FREE Mayo Clinic e-newsletter, Alzheimer’s Caregiving, to stay up to date on Alzheimer’s topics.
http://www.mayoclinic.org/diseases-conditions/alzheimers-disease/basics/definition/con-20023871

Alzheimer’s Association

Formed in 1980, the Alzheimer’s Association is the world’s leading voluntary health organization in Alzheimer’s care, support and research. The Alzheimer’s Association offers a variety of ways to get involved, including advocacy work, fundraising, and walks to raise awareness.
https://www.alz.org

NIH/NIA Alzheimer’s Clinical Trials Referral Site

Use an interactive map to locate ongoing and upcoming Alzheimer’s disease and related clinical trials near you. See trials that are currently recruiting, search for trials by location, or sign up for free e-alerts.
http://www.nia.nih.gov/alzheimers/clinical-trials?utm_source=ad_fact_sheet&utm_medium=web&utm_content=trials&utm_campaign=top_promo_box

Video: Inside the Brain: Unraveling the Mystery of Alzheimer’s Disease

Produced by the NIH, this 4-minute captioned video shows the intricate mechanisms involved in the progression of Alzheimer’s disease in the brain.
http://www.nia.nih.gov/alzheimers/alzheimers-disease-video?utm_source=ad_fact_sheet&utm_medium=web&utm_content=video&utm_campaign=top_promo_box

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