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Alzheimer's Disease Research

The Familial Alzheimer's Disease Research Program, spearheaded by Dr. Susan Bassett, is a collection of studies aimed at understanding the genetic susceptibility to Alzheimer's disease and identifying risk factors in populations at risk. The program also uses functional imaging and neuropsychological testing to investigate cognitive abnormalities in these populations. For more information on any of these projects, please contact Caroline Speck (410-955-5057).

Molecular Brain Imaging of Nicotinic Cholinergic Receptors in Normal Aging, Mild Cognitive Impairment and Alzheimer’s Disease

PI: Martin G. Pomper, M.D., Ph.D.
IRB # NA_00076249

Our study uses a new molecular imaging method designed to visualize distribution of certain nicotinic acetylcholine receptors in the brain. Past research suggests that these nicotinic acetylcholine receptors are reduced in number in the human brain over normal aging and in patients with Mild Cognitive Impairment (MCI) and Alzheimer’s Disease. We aim to visualize the distribution of these receptors in the brain by using a novel radiotracer that targets the α4β2 nicotinic acetylcholine receptor by using positron emission tomography (PET).  Use of this new, sensitive medical imaging technology may help us to better understand how deficits in cognition may be linked to loss of these receptors over aging and in disease--and inform development of new therapies to target these receptors to possibly improve symptoms.  We are recruiting patients with MCI and Alzheimer's Disease as well as healthy controls between the ages 35-90 years. This brain imaging study consists of a 90 minute PET scan, a MRI scan, and blood work across 2 to 3 study visits.  Volunteers are compensated for their time. For more information and to undergo a phone screening to determine eligibility please contact: Dr. Jennifer Coughlin, Co-Investigator:; 443-287-4701.

Diagnostic Center for Genetic Linkage Studies in Alzheimer's Disease

PI: Susan Bassett, Ph.D.
IRB # 89-02-28-03

This project is funded by the National Institute of Mental Health, and is part of a major NIMH initiative focused on identifying and mapping genes for psychiatric disorders. The goal is to identify, systematically evaluate and enroll families with two or more siblings diagnosed with AD and proceed to search for AD genes. Its specific aims are:

  • Enrollment of members of previously enrolled families with at least two siblings affected with AD including collection of pedigree data and blood samples.
  • Enrollment of healthy control participants from the community from families with no history of AD.
  • Longitudinal follow-up of enrolled subjects to document disease progression and monitor status in currently unaffected siblings
  • Arrangement of autopsies for neuro-pathological confirmation of diagnosis
    Examination of clinical, neuro-pathological and genetic data for sub-typing and identification of possible risk and protective factors

Perceptions of Risk and Genetic Testing for AD

PI: Susan Bassett, Ph.D.
IRB # 96-09-26-01

This project is funded by the National Human Genome Research Institute. Alzheimer's disease (AD) is a complex disorder in which advances in molecular genetics have made pre-symptomatic testing an issue of intense controversy. The overall objective of this study is to examine both the understanding of inheritance of AD risk and views on susceptibility testing among individuals at increased risk for AD and among physicians who care for patients with this disease; and then to develop an educational program to increase comprehension of these issues. Its specific aims are to:

  • Assess the understanding of individuals at increased risk of AD, of the contribution of hereditary factors to AD and the usefulness of tests in predicting susceptibility;
  • Investigate the experiences and characteristics that motivate adult offspring's interest in tests for genetic susceptibility in the absence of efficacious treatment or prevention;
  • Assess the understanding of physicians treating individuals in families with multiple affected members regarding the inheritance of AD and the usefulness of tests in predicting AD;
  • Evaluate the correspondence between views of physicians of AD patients and the patient's adult offspring regarding tests for genetic susceptibility, and
  • Evaluate ways of improving comprehension of the complexity of AD inheritance particularly with regard to the propensity to accept genetic testing.

This project is no longer recruiting participants.

Brain Imaging and Cognition in Individuals At Risk for AD

PI: Susan Bassett, Ph.D.
IRB # NA_00025784

This project is funded by the National Institute on Aging. The goal of this project is to study cognition and neuroimaging longitudinally in a sample of adults who are at increased risk for development of AD and contrast these findings with those of matched control group. The project's specific aims are to:

  • Examine cognitive performance on tests of memory and learning, and both generalized and regional brain measures using both MRI and fMRI. Participants, all at least 50 years of age, include 100 adult offspring of autopsy-confirmed AD cases who are members of multi-plex families currently enrolled in a genetic study of AD, and 100 control participants matched for age and gender.
  • Correlate findings with genetic status, including APOE and A2M

Alzheimer's Disease Genes Project

PI: Susan Bassett, Ph.D.
IRB # 89-02-28-03

So far, a large number of chromosomal regions have been linked to AD, but the findings are often inconsistent among studies. This may be due, in part, to the genetic heterogeneity of the families studied. The major aim of this study is to further refine the chromosomal regions that have been linked to AD by defining more homogeneous subgroups of families. By doing this, we hope to prioritize these regions for fine mapping and to identify genes for this disease.



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