Neurofibromatosis type 1 (NF-1) is a Neurocutaneous Syndrome with autosomal dominant mode of inheritance and has a high propensity to develop benign and malignant nervous system tumors.

Advances in genetic understanding of gorlin syndrome and emerging treatment options

 Shawn Shih, Christina Dai, Ahmed Ansari, Brittany A Urso, Amy I Laughlin & James A Solomon

Introduction: Basal cell carcinoma nevus syndrome (BCCNS) is a rare syndrome characterized by multiple basal cell carcinomas (BCC), odontogenic keratocysts, and other abnormalities. The most common etiology, the loss-of-function PTCH1 mutations and consequent constitutive hedgehog signaling, can be blocked by smoothened inhibitors (SIs). However, other causes and alternative pathways have been identified.

A General Strategic Review on Rare Diseases & Orphan Drugs

Joan Chambers

Senior Strategic Advisor      

Rare diseases are generally defined as diseases that affect fewer than 200,000 people in the United States. Because rare diseases touch so few people, pharmaceutical companies traditionally did not pursue drug treatment for them. In addition, only a few types of rare diseases are tracked in the United States. That makes it more difficult to know exactly how many rare diseases exist and how many people have them.¹ Treating these diseases has its own unique challenges, said Scott Schliebner, vice president of scientific affairs – rare diseases for PRA Health Sciences. Schliebner, considered an industry expert on this topic, is also a well-recognized speaker about rare diseases.