Posts Tagged ‘preeclempsia’

3:15PM 11/12/2014 – 10th Annual Personalized Medicine Conference at the Harvard Medical School, Boston

REAL TIME Coverage of this Conference by Dr. Aviva Lev-Ari, PhD, RN – Director and Founder of LEADERS in PHARMACEUTICAL BUSINESS INTELLIGENCE, Boston http://pharmaceuticalintelligence.com


3:15 p.m. Discussion Complex Disorders

Complex Disorders

During the past 30-40 years, it has become well established that most human disorders affecting large groups of individuals have a genetic basis. Based upon this information there are several efforts to conduct genetic analysis on very large populations of individuals to identify genetic factors that cause susceptibility to complex disorders. In this session, two examples where such studies are bearing fruit will be discussed.

Complex Disorders

Discussion Leader:

Anna Barker, Ph.D.
Director, Transformative Healthcare Knowledge Networks;
Co-Director, Complex Adaptive Systems Initiative:
Professor, School of Life Sciences, Arizona State University

World of Biomarkers following NIH Career – Molecular based Medicine

get all the facts right straight then distort them


Roy Perlis, MGH, Bipolar Specialty, Prof of Psychiatry

Specialist in Schizophrenia, Autism

  • Complexity – overlapping diseases, genomics discovery
  • Psychiatry Genomics – Susceptibility, variance explained by common variation, intervention studies for susceptibility
  • depression is hereditary
  • 2000 schizophrenics genome,
  • phenotype models is only partially indicative of help if you are on Klonopin, is this enough for the diagnosis
  • CRISPR — HOW to use it — not discovered yet for psychiatry disorder — it may be the solution, though

Joe Vockley

COO, Inova Health System

CSO, Inova Translational Medicine Institute

  • Preeclempsia – preterm Birth is a complex disease many factor can cause it, 12% of birth are Preterm birth
  • 10,000 genome vs full term birth, clinical phenotypes,
  • model 81% predictive — triage screening based on markers – genomics to follow phenotyping.
  • Genomics — indicative — not fully used from diagnostics to therapy
  • ancestor data (familial info) of the 10,000 in the cohort was done filter variant
  • whole genome sequencing, reimbursement does not support  to path to therapy based on genomics

Robert Plenge, M.D., Ph.D.   @rplenge
Vice President and Worldwide Head Genetics and Pharmacogenomics
Merck Research Laboratories – Specialist RA

ex- Pharmacogenetics at MGH

  • sample size 100,000 genomes completely sequenced  – PM is at present in Oncology – use Genetics to discover diagnostics markers, clinical diagnosis, protocols – worst in cancer
  • genetic effect are important component requires big cohort to identify large effect
  • dysfunctional variant
  • Proteomic predictors, in drug discovery not sufficient, marker of disease  it is helpful



– See more at: http://personalizedmedicine.partners.org/Education/Personalized-Medicine-Conference/Program.aspx#sthash.qGbGZXXf.dpuf








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