Orphan disease is defined as a condition that affects fewer than 200,000 people nationwide. This includes diseases as familiar as cystic fibrosis, Lou Gehrig's disease, and Fragile X syndrome.

The Global Genes Project estimates some 300 million people worldwide are affected by a rare disease. The European Organization for Rare Diseases (EURORDIS) estimates that as many as 5,000 to 7,000 distinct rare diseases exist, and only about 400 rare diseases have therapies and about 80% have a genetic component according to Rare Genomics Institute.

We are experts in innovative tailored platforms for biomarker research and drug development for orphan diseases

PLATFORMS

• Functional screening including:

• • genome-wide analysis
  • transcriptome profiling
  • miRNA identification
  • targeted sequencing

• Pharmacogenomics to Identify genes that influence the sensitivity to drugs.

• Defines subpopulation of normal individuals with an elevated risk of developing orphan diseases

• Cross-platform analysis for biomarker discovery: Systems biology approaches to incorporate multiple data sets.

• • We use multiple data sets from genomics, microarrays, mass spectrometry, protein sequences, and other biological knowledge in order to improve the reliability of biomarkers.

Orphan diseases

• Fragile X Syndrome
• Dravet Syndrome
• Huntington´s Disease
• Amyotrophic Lateral Sclerosis
• Gastrointestinal Stromal Tumors
• Merkel Cell Carcinoma
• Type 2 Diabetes Mellitus
• Multi-drug Resistant Tuberculosis
• Duchenne Mucular Dystrophy
• Cystic Fibrosis