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 : The foundation for rare disease and its role in the european rare disease research landscape
Daniel Scherman, Foundation for Rare Diseases, France
Title : The effect of Eupalinolide B on amyotrophic lateral sclerosis: A case report
Wang Huaixiu, Shanxi Provincial Hospital, China
Title : Progress related in genetic research on kawasaki disease
Jiao Fuyong, Shaanxi Provincial People’s Hospital, China
Title : Covid-19 seems to be Initiated by the heparan-sulfate dysregulation by coronavirus: The use of low-molecular- weight heparin (LMWH) can prevent and treat covid-19 when it Is used in early stages, as a heparan-sulfate-regulating medicine
Fereshteh Sedaghat, Sedaghat Memory Clinic, Iran (Islamic Republic of)
Title : Lumevoq gene therapy in leber hereditary optic neuropathy
Magali Taiel, GenSight Biologics, France
Title : Drug recommendation system using a collaborative filtering in machine learning
J. Somasekar, Jain University, India