It's probably surprising that, despite recent technology and medical improvements, misdiagnosis and a lack of understanding remain key problems for persons living with a rare disease or undiagnosed condition. Being without a diagnosis is a terrible situation for families, compromising the patient's health, survival, and well-being, as well as, in some cases, the patient's entire identity. Even if there is no cure, obtaining one can help the family realise what they are up against, allowing them to begin to focus on how to manage the disease and their 'new normal.' The discovery of genes that cause rare diseases has increased at an unprecedented rate in the last five years, as has the number of diagnosable but untreatable conditions. Rare disease diagnosis is difficult; yet, the speed with which genomics has progressed from a research setting to mainstream clinical practice demonstrates its utility.
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