Advances in Rare Disorders
A disorder is considered rare in the USA when it affects fewer than 200,000 people (or 1 in 2,000 in Europe). However, the scenario is of public concern if we consider the severity and the sheer number of these diseases. More than 6,000 rare disorders have been described affecting 300 million people around the world (30 million in Europe and 25 million in the USA), meaning that roughly one out of 15 people worldwide could suffer a rare disorder. Most of these diseases are chronic and life-threatening, and they present different challenges from those of more common diseases. The few patients that suffer from a rare disorder are usually scattered across countries, hampering the proper documentation of the natural history of the disease and patient management.
As a consequence, it takes an average of around five years to get a proper diagnosis, and 95% of rare disorders lack approved treatment. Besides, the impact on patients and families can be devastating, since 50% of the disorders affect children and 30% of them will die before the age of 5. The vast majority of rare diseases (80%) have a genetic component, and, therefore, the development of new drugs based on genetic information as well as gene and cell therapies is taking the lead on patient management. For this reason, and with the upcoming Rare Disease Day on February 29th, ECUSA would like to highlight the advances in cutting-edge treatments for these disorders.
We have invited four recognized researchers who are running the race towards a cure for these diseases:
- Luk H Vandenberghe PhD, Associate Professor at Grousbeck Gene Therapy Center, Mass Eye and Ear
- Carmen Unzu PhD, Principal Scientist at Apic Bio
- Pietro Genovese PhD, Assistant Professor at Dana-Farber/Boston Children's Cancer and Blood Disorders Center
- Rocio Fuente Perez PhD, Research Fellow at School of Dental Medicine, Harvard University