Despite our understanding of the genetic mutations that underlie uncommon diseases, little is known about their cellular repercussions. Because developments in genome sequencing have far surpassed the throughout in functional follow-up investigations, functional studies on rare diseases have fallen behind gene identification. Furthermore, the pharmaceutical and biotech firms have few incentives to invest in drug research and development for diseases that only impact a small number of people. Rare diseases have always been investigated at the cellular level on an individual basis. A study published recently phenotyped a library of 2,890 rare disease-causing variations and their wild-type alleles in detail. Whole genome sequencing can provide insight into the genetics of rare disorders, it can miss up to half of the patients that are screened. The researchers discovered that integrating proteomics and genomics increases rare disease diagnostic accuracy.
Title : What does a technology-enabled patient concierge mean to the orphan drugs industry?
Harsha Rajasimha, Jeeva Informatics Solutions Inc, United States
Title : Improving regulatory confidence for formal early phase clinical development.
Candida Fratazzi, BBCR Consulting - Massachusetts, United States
Title :
Victor Shengkan jin, Rutgers University, United States
Title : Scleritis and systemic diseases: What should know the internist/rheumatologist ?
Philip Bielefeld, Avignon Hospital, France
Title : Progress related in genetic research on Kawasaki disease
Jiao Fuyong, Children’s Hospital of Shaanxi Provincial People’s Hospital, China
Title : Lumevoq Gene Therapy in Leber Hereditary Optic Neuropathy
Magali Taiel, GenSight Biologics, France