Rebecca has hosted an event to highlight the challenges and opportunities in developing medicines for rare diseases.
Mrs Evans – who has been a champion for rare diseases in the Assembly – hosted the event at the Assembly as part of the Medicines Knowledge Base series of discussions.
She said: “Rare diseases are actually not that rare. A rare disease is defined as any condition affecting fewer than 5 in 10,000 of the general population. There are over 6,000 known rare diseases, and they will affect 1 in 17 people at some point in their lives – that equates to 175,000 people in Wales.
“I recently welcomed the publication of the first ever UK-wide Rare Disease Strategy, and the promise of the specific Wales delivery plan that I have been calling for in the Senedd.
“Alongside actions to increase prevention, improve diagnosis, and enhance coordination of care, the Strategy puts a new focus on working in partnership to develop treatments and on cooperation in research across borders in the European Union.”
This session titled ‘Medicines for Rare Diseases: the opportunity and the challenge’ focused on what can be done to develop life-saving and life-improving treatments for people with rare diseases.
The keynote presentation was given by Dr. Kevin Lee of Pfizer Inc., who is a leader in the field.
Mr Lee said: “Rare and Orphan diseases present some of the biggest challenges in treatment development and disease management. It is estimated that there are more than 7000 different rare diseases affecting over 60 million people across Europe and North America alone and millions more worldwide.(Rarediseaseday.org) Many of these conditions are genetic, serious, chronic and debilitating. However, only about 5 percent of these diseases have approved therapeutic treatments, creating an enormous unmet need for patients. Pfizer has a long-standing presence in rare diseases. We understand the potentially devastating impact of rare diseases on patient caretakers and are committed to helping address the high unmet needs of the rare diseases community.”