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)

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)

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

Proteomics 

• Protein Expression Profiling Using SELDI-TOF Mass Spectrometry