Talks at the Sanford-Burnham Rare Disease Day Symposium highlight the “transformative potential of exome sequencing” for rare Mendelian diseases
Individually rare yet collectively common, ‘orphan’ or rare diseases affect nearly 30 million Americans every year. Despite the current explosion in genomic data and personalized medicine strategies, little is known about what causes these rare genetic disorders, how they progress or options for treatment. Marking Rare Disease Day, a one-day symposium at the Sanford Burnham Medical Research Institute in La Jolla, CA featured talks by several researchers studying disorders of glycosylation, especially in children. Several of these discussions highlighted how studying rare conditions can enhance the ways we detect, diagnose or research relatively more common diseases. Read more…
