Developing treatments for rare diseases is among the most challenging areas of science. By definition, in the U.S., a disease is considered rare when it affects fewer than 200,000 Americans. Roughly 80 percent of rare diseases are known to be caused by genetic disorders. Given the uncommonness of each condition, scientists face hurdles in understanding their underlying causes and the natural history, or progression, of each disease.
In our latest episode of the Get Science Podcast, Seng Cheng, Chief Scientific Officer of the Rare Disease Research Unit at Pfizer, discusses his urgent mission to help find breakthrough treatments for rare genetic conditions, such a hemophilia, sickle cell anemia and Duchenne muscular dystrophy. “There are many thousands of rare diseases,” says Seng, who is based at Pfizer’s Kendall Square, Cambridge, Mass. research site. “For me, the challenge is to make sure we can develop medicines for as many different conditions as we can bring to bear, so we can provide not just hope, but true relief for these individuals.”
Before joining Pfizer in 2018, Seng spent nearly 25 years at the biotech company Genzyme, where he worked on developing treatments for cystic fibrosis and a group of rare diseases that affect lysosomes, or cell’s “recycling center.” In his current role at Pfizer, he leads the development of next-generation therapies to treat hematologic rare diseases, such as hemophilia and sickle cell anemia, as well as rare neurological and neuromuscular diseases.
By uncovering the underlying biology of these conditions, scientists are able to explore multiple pathways to treating them. “There’s always more than one way to address all of these diseases,” says Seng. “And, sometimes, when the most obvious pathways doesn’t work, we’re looking for alternatives pathways that can give you just as good of an impact.”
Tune in to learn more!