Could gene therapy transform millions of lives?

We are on the threshold of an exciting new era in medicine. With around 80 percent of rare diseases being genetic in origin[1], our growing mastery of human genetics gives us real potential to develop therapies which could transform the lives of millions of rare disease patients who have limited or no treatment options. 

Rare Disease Day (February 28) draws world attention to the challenges these people and their families face every day. It’s also an opportunity to celebrate the commitment of countless scientists who dedicate their lives to finding treatments and potential cures for diseases which have defeated the greatest minds in history.

Pfizer’s Rare Disease team is particularly focused on diseases where a single gene is defective (known as monogenic), like Duchenne muscular dystrophy (DMD), hemophilia, and amyotrophic lateral sclerosis (ALS). We will then apply what we learn to more complex diseases, where multiple genes are involved.

We’re operating at the cutting edge of science and developing entirely new techniques – so new, that not all our efforts will succeed. Of course, we also need time to study developments carefully to make sure they will be safe and effective. However, every small breakthrough brings us one notch closer to our goal: delivering a life-changing treatment for patients.

We are leveraging a range of global assets to deliver on this goal, including strategic pipeline investments, trusted partnerships and end-to-end capabilities for designing and manufacturing gene therapy products. The results of this collaborative effort are already reflected in a robust pipeline of preclinical and clinical potential gene therapy treatments in development.

There’s no greater motivation than knowing that patients and their families are watching and waiting. On Rare Disease Day we launched a social media campaign designed to draw world attention to the challenges they face, and complementing the work of EURORDIS (which launched Rare Disease Day in 2008), the National Organization for Rare Disorders (NORD) and other official partners.

 It’s called High Five (#High5forRareDiseases) because it focuses on these powerful statistics:

·       Rare diseases affect 350 million people around the world – that’s five percent of the population.

·       Less than five percent of the 7,000 known rare diseases have an approved treatment.

·       A person with a rare disease can expect to wait, on average, five years to get the correct diagnosis after first experiencing symptoms.

 Our message to these 350 million people, their families and caregivers is ‘we hear you.’ For 30 years, Pfizer’s Rare Disease team has been here for the rare disease community, producing and developing treatments. We continue to be motivated by a shared sense of urgency and an unwavering passion to make a meaningful difference to patients’ lives – today and in the future.

[1] Rare Disease Day website: ‘80% of rare diseases have identified genetic origins whilst others are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative.’ https://www.rarediseaseday.org/article/what-is-a-rare-disease