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.

FDA  approved  Galafold (migalastat) as the first oral medication for the treatment of Fabry disease that is a rare genetic disorder.

Fabry disease is a rare and inherited genetic disorder  when a type of fat called Globotriaosylceramide is built (GL-3) in blood vessels, the kidneys, the heart, the nerves and other parts of the body & it affects both females & males.

A disease or condition caused by an absent or defective gene or by a chromosomal aberration & Genetic disorders may be hereditary. Sometimes there is a mutation, a change in a gene or genes.

Orphan Drugs in Third world countries:

Millions of people in Third World countries do not have access to the health care, drugs and vaccines available in developed countries. 10 million children less than 5 years old die each year of infectious diseases for which treatments exist in developing countries. 3 million children die each year because they have not been immunised. 150 million women would like to wait longer between two pregnancies or limit them, but they do not have access contraception. The spread of the AIDS epidemic only widens the health gap between poor countries and developed countries.

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.