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

July 29-30, 2019

Annual Meeting on Infectious Diseases

Amsterdam, Netherlands | Holiday Inn Amsterdam- Arena Towers, Hoogoorddreef 66a,1101 BE
August 28-29,2019

6th International conference on Infectious Diseases & Antibiotics

Paris, France, HOLIDAY INN PARIS - PORTE DE CLICHY
September 09-10, 2019

12th Global Infections Conference

Singapore
September 23-24, 2019

11th Euro-Global Conference on Infectious Diseases

London, UK

Venue: Park Inn by Radisson Hotel & Conference Centre London Heathrow
October 21-22, 2019

5th Annual Congress on Infectious Diseases

Frankfurt, Germany
October 21-22, 2019

15th World Congress on Infection Prevention and Control

Zurich, Switzerland
November 06-07, 2019

9th Global Experts Conference on HIV, STDs and Co-Infections

| Yokohama, Japan
November 11-12, 2019

2nd World Congress on Rare Diseases

Amsterdam, Netherlands
Feb 24-25, 2020

7th International Congress on Infectious Diseases

Berlin, Germany
March 11-12, 2020

8th International Conference on HIV AIDS STD & STIs

Barcelona, Spain
March 23-24, 2020

3rd Global Experts Meeting on Infectious Diseases

| Tokyo, Japan
May 18-19, 2020

7th Global Congress on Rare Diseases & Orphan Drug

Istanbul, Turkey
July 22-23, 2020

10th World Congress on Rare Diseases and Orphan Drugs

Barcelona, Spain

Rare Paediatric Diseases Conference Speakers

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