Rare Pediatrics Diseases

The majority of rare diseases affect children, most of whom have an underlying genetic cause for his or her condition. However, making a molecular diagnosis with current technologies and knowledge is usually still a challenge. Pediatric genomics is rapidly evolving field but it is not well developed, that tackles this problem by incorporating next-generation sequencing technologies, especially whole-exome sequencing and whole-genome sequencing, into research and clinical workflows. This troublesome multidisciplinary approach, joined with the climbing accessibility of populace hereditary information variety, has just brought about an expanded disclosure pace of causative qualities and in improved analysis of uncommon pediatric illness. Generously, for influenced singular relations, a legitimate and exhaustive comprehension of the hereditary premise of uncommon infection means more wonderful guess, the executives, observation and hereditary guidance; animates investigation into new treatments; and empowers arrangement of higher help.

Related Associations of Rare Diseases Research:

Alzheimer's disease Organizations, Ann & Robert H. Lurie Children’s Hospital, Birmingham children’s Hospital, Boston Children’s Hospital, Canadian Organization for Rare Diseases, Chicago Rare Disease Foundation, Children’s hospital of Pittsburgh, National Alliances for Rare Diseases, National Institute of Health (NIH), National Organization for Rare Diseases, NDC Medicine, Rare Diseases Patient Association Funding, Rare Diseases South Africa, Rare Diseases Translational Research Collaboration.


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