Pediatric Neurology’s Research Division
Program in Medical Genetics
Basic Research

Gene Discovery

  • Mendelian Disorders
    (Ellis-van Creveld Syndrome, EvC)
  • Disorders with Complex Inheritance
    (Manic Depressive Illness in the Old Order Amish)

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Mutation and Polymorphism Analysis in Inherited Disorders

  •   DNA Sequencing and Microsatellite Analysis
  •  MALDI-TOF Mass Spectrometry

 

 

Functional Genomics

  • Laser Capture Microdissection
  • Expression Profiling of RNA Transcripts (EvC; BreastCancer)

LCM

  Gene Transfer
  • Antisense DNA Targeting (Dopamine 2 Receptor)
  • Oral Gene Expression Therapy

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Proteomics 

  • Protein Expression Profiling Using SELDI-TOF Mass Spectrometry