Detail molecular profiling of neurodegenerative diseases and precision medicine

Carlos Cruchaga Ph.D.

Neurodegenerative diseases, including Alzheimer’s disease (AD) or Parkinson’s Disease (PD) are complex polygenic diseases with genetic, cellular, pathologic, and clinical heterogeneity. Recent studies using a variety of clinical and neuropathological measures indicate that the disease may be comprised of a spectrum of difficult-to-discern endophenotypes, each with its own genetic and clinical signatures. We are using several approaches to identify novel genes implicated in disease risk. As part of the Alzheimer Disease Sequencing Project (ADSP) we are leading several projects using Whole Genome and Whole Exome data to identify novel variants and genes associated with familial and early-onset AD.  At the same time, we are also using genomic approaches to further understand the biology of these complex traits.

Our group has pioneered the use of endophenotypes and quantitative traits to understand the genetic architecture of AD, unravel the biology of the disease, and identify novel biomarkers and drug targets. Unprecedented advances in sequencing and high-throughput omics technologies have greatly increased the power and precision of analytical tools used in genomic research and have accelerated the drive toward personalized medicine. Human biospecimens that are analyzed using these new and developing high-throughput platforms have emerged as a critical resource for basic and translational research in neurodegenerative diseases because they can directly measure multiple layers of molecular data, from which targets for therapy, detection, and prevention are identified. We are performing multi-tissue (brain, cerebrospinal fluid) molecular profiling (genetics, epigenetics, transcriptomics, proteomics, metabolomics, and lipidomics) in large and well-characterized datasets to identify novel biomarkers, genes, and pathways implicated in diseases and new therapeutic targets. This multi-level data integration is already facilitating precision medicine and advancing medicine at the individual patient level.

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