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

February 27-28, 2019

2nd Global Experts Meeting on Infectious Diseases

| Radisson Hotel Narita | Tokyo, Japan
March 13-14, 2019

12th World Congress on Virology and Infectious Diseases

| Holiday Inn Atrium | Singapore
April 08-09, 2019

2nd Global experts meet on STD-AIDS and Infectious Diseases

Wellington, New Zealand
June 17-18, 2019

9th World Congress on Rare Diseases and Orphan Drugs

Berlin, Germany
July 29-30, 2019

Annual Meeting on Infectious Diseases

Amsterdam, Netherlands
September 09-10, 2019

12thGlobal Infections Conference

Holiday Inn Atrium | Singapore
September 16-17, 2019

10th International Conference on Emerging Infectious Diseases

Brussels, Belgium
September 23-24, 2019

10th Annual Congress on Rare Diseases and Orphan Drugs

Toronto | Canada
September 23-24, 2019

11th Euro-Global Conference on Infectious Diseases

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October 21-22, 2019

9th Asia Pacific STD and Infectious Diseases Congress

Hotel Radisson | Tokyo Japan
November 19-20, 2019

7th Annual Conference on Parasitology & Infectious Diseases

Cape Town, South Africa

Rare Paediatric Diseases Conference Speakers

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