Rare Paediatric Diseases

The majority of rare diseases affect children, most of whom have a primary genetic source for their condition. However, making a molecular diagnosis with current technologies and knowledge is often still a challenge. Paediatric genomics is rapidly developing field but it is not fine developed, that challenges this problem by integrating next-generation sequencing technologies, especially whole-exome sequencing and whole-genome sequencing, into research and medical workflows. This challenging multidisciplinary approach, shared with the rising accessibility of population genetic data variation, has already resulted in an increased discovery rate of connective genes and in developed diagnosis of rare paediatric disease. Substantially, for affected individual family members, a good and systematic 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.

  • Juvenile batten disease
  • Improving diagnosis and treatment for severe anaemia
  • Duchenne muscular dystrophy
  • X-linked lymphoproliferative disease
  • Sanfilippo type B

Related Conference of Rare Paediatric Diseases

Rare Paediatric Diseases Conference Speakers