Individual rare diseases affect a small portion of the population. However, because there are over 7,000 known rare diseases, they are, in fact, somewhat common. It is estimated that around 4% of the world’s population (~300M) are affected by rare disease*. In a recent post, we described how these diseases often receive less funding and attention, leading to difficulties in both diagnosis and treatment. That’s where rare disease researchers come in – their groundbreaking work is incredibly important, improving lives and advancing our understanding of human biology.
How do they do it? Rare disease researchers work around the clock to unravel the mysteries of these complex conditions. To see what goes into this compelling field, we’re excited to bring you a one-of-a-kind perspective from an actual rare disease researcher who focuses on genetic hearing loss. Dr. Eliot Shearer, MD PhD is a principal investigator at the Translational Hearing Genomics Lab as well as a Pediatric Otolaryngologist at Boston Children’s Hospital. He is also an Assistant Professor in the Department of Otolaryngology at Harvard Medical School.
This behind-the-scenes look will give you insights into Dr. Shearer’s day-to-day work, including his experiences using HiFi sequencing to study previously unexplained and challenging cases.
Join us as we dive into this fascinating world and hear directly from someone who is making a difference in the lives of individuals and families affected by genetic hearing loss.
The daily life of a researcher like Dr. Shearer is nothing short of remarkable. Through his research, Dr. Shearer is helping to improve the lives of countless individuals and families affected by genetic hearing loss. His work serves as a reminder of the critical role that researchers play in uncovering the genetic cause of disease.
We owe a debt of gratitude to researchers like Dr. Shearer, who dedicate their lives to improving the health and well-being of others. We are honored that he is using HiFi sequencing to expand the limits of what was previously possible and look forward to seeing the positive impact that his research will continue to have in the years to come.