EURORDIS News- Rare Diseases Europe has been formed in order to help people living with a rare disease and concentrates on the social challenges faced by rare patients like : The gaps in coordination between medical-social and support services .

RADOIR Public Relations- It was approved that the condition of rare diseases patients should be determined by high prevalence, disability factor, affordability and updated methods for treatments.

As the first personalized cell and gene therapies are approved from small clinical trials, researchers propose the creation of publicly accessible databases to pull together real-world results.  www.the-scientist.com

Due to advances in rare-disease research and individualized cell and gene therapies, there has been a recent crop of treatments approved by regulatory agencies not based on the “gold standard” randomized, controlled, Phase 3 clinical trial. Rather, drug companies are getting products on the market from small, Phase 2 trials with a single arm—those that treat all patients with the experimental therapy rather than having some on a placebo or standard-of-care treatment.

The Stanford University human geneticist identified the genes and genomic abnormalities underlying numerous rare diseases, including Rett  syndrome, and advanced the field of molecular diagnostics. 

By Anna Azvolinsky | May 1, 2018

Before moving her lab from the University of California, San Diego (UCSD), to Yale University in 1978, Uta Francke learned how to fly. “I thought, where could you go from New Haven if you are very busy and don’t have much time? It’s hard to do with a car and even the train, so I got a license to fly a small plane and joined a flying club in New Haven,” says the professor emerita of genetics and pediatrics at Stanford University School of Medicine.

Diagnosis of Rare Inherited Diseases

Authors : William G. Newman and Graeme C. Black

Description:

Delineation of the genetic basis of rare inherited diseases can provide diagnostic certainty and risk assessment for affected individuals and their families. Determination of the genes that are mutated in such conditions can not only provide important insights into disease pathogenesis, but have frequently been shown to shed important light on the molecular pathology of common complex disorders, which share similar features. Crucially, disease gene identification represents the starting point for the development of novel therapeutics. This chapter describes the different types of genetic disorders – both chromosomal and monogenic – and the advances in technology, including next generation sequencing and microarrays that are driving the discovery of novel genetic mechanisms underlying human disease.

The Journal Rare Disorders: Diagnosis & Therapy is an open access Scientific Journal which mainly focuses on articles of rare and chronically debilitating diseases. The Journal Rare Disorders: Diagnosis & Therapy comes up with an opportunity to researchers and scientist to explore rare diseases and their therapies. The Journal Rare Disorders: Diagnosis & Therapy is of highest standards in terms of quality.

National Academies of Sciences, Engineering, and Medicine; Health and Medicine Division; Board on Health Sciences Policy; Roundtable on Genomics and Precision Health.National Academies (US); 2018 Mar 16.