Rare Pediatric 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.

 

 

  • Congenital malformation
  • Childhood Stroke
  • Autoimmune Diseases

Related Conference of Rare Pediatric Diseases

July 29-30, 2019

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Amsterdam, Netherlands | Holiday Inn Amsterdam- Arena Towers, Hoogoorddreef 66a,1101 BE
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Venue: Park Inn by Radisson Hotel & Conference Centre London Heathrow
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| Yokohama, Japan
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Feb 24-25, 2020

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Berlin, Germany
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8th International Conference on HIV AIDS STD & STIs

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| Tokyo, Japan
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7th Global Congress on Rare Diseases & Orphan Drug

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10th World Congress on Rare Diseases and Orphan Drugs

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Rare Pediatric Diseases Conference Speakers

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