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

November 21-22, 2019

2nd International Conference on Tropical and Infectious Diseases

Courtyard by Marriot Bali Seminyak Resort | Bali, Indonesia
November 25-26, 2019

2nd World Congress on Rare Diseases

Dubai, UAE
December 02-03, 2019

10th International Conference on Emerging Infectious Diseases

| Barcelona, Spain

Venue : Hesperia Barcelona del Mar

January 27-28, 2020

3rd Global Experts Meeting on Infectious Diseases

| Bangkok, Thailand
February 10-11, 2020

Global Experts Meet on STD-AIDS and Infectious Diseases

Sydney, Australia
February 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

2nd World Congress on Advancements in Tuberculosis and Lung Diseases

Mar 18-19, 2020 | Tokyo, Japan
April 27-28, 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
August 19-20, 2020

European Summit on HIV, STD and STI

| Milan, Italy
September 28-29, 2020

13th Global Infections Conference

Singapore
October 05-06, 2020

12th Euro-Global Conference on Infectious Diseases

Vienna, Austria
December 06-07, 2021

3rd World Congress on Rare Diseases

Dubai, UAE

Rare Paediatric Diseases Conference Speakers

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