Pediatric rare 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.

 

  • Pediatric Bruton Agammaglobulinemia
  • Pediatric Severe Combined Immunodeficiency
  • Leukocyte adhesion deficiency and paediatrics
  • Congenital malformation
  • Childhood Stroke
  • Congenital malformation
  • Childhood Stroke
  • Auto immune Diseases
  • Aarskog syndrome

Related Conference of Pediatric rare diseases

June 09-10, 2020

10th European Epidemiology and Public Health Congress

Istanbul, Turkey
August 19-20, 2020

European Summit on HIV, STD and STIs

Milan, Italy
September 28-29, 2020

13th Global Infections Conference

Singapore
October 5-6, 2020

12th Euro-Global Conference on Infectious Diseases

Vienna, Austria
November 05-06, 2020

9th Asia Pacific STD and Infectious Diseases Congress

Tokyo, Japan
February 15-16, 2021

8th International Congress on Infectious Diseases

London, UK
February 22-23, 2021

4th Global Experts Meeting on Infectious Diseases

Singapore City, Singapore

Pediatric rare diseases Conference Speakers

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