Rare Pediatrics Diseases


The majority of rare diseases affect children, most of whom have an underlying genetic cause for their condition. However, making a molecular diagnosis with current technologies and knowledge is often 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 difficult multidisciplinary approach, combined with the ascending availability of population genetic data variation, has already resulted in an increased discovery rate of causative genes and in improved diagnosis of rare pediatric disease. Substantially, for affected individual family members, a good and thorough understanding of the genetic basis of rare disease translates to more perfect prognosis, management, surveillance and genetic advice; stimulates research into new therapies; and enables provision of better support.


  • Childhood stroke
  • Autoimmune diseases
  • Congenital malformation

Related Conference of Rare Pediatrics Diseases

January 21-22, 2021

7th Rare Diseases and Orphan Drugs

Vienna, Austria
February 15-16, 2021

8th International Congress on Infectious Diseases

London, UK
May 10-11, 2021

4th Global Experts Meeting on Infectious Diseases

Singapore City, Singapore
August 16-17, 2021

13th Global Infections Conference

Tokyo, Japan
September 06-07, 2021

11th World Congress on Rare Diseases and Orphan Drugs

Berlin, Germany

Rare Pediatrics Diseases Conference Speakers

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