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
  • Chilhood stroke
  • Autoimmune Diseases

Related Conference of Rare Pediatric Diseases

August 27-28, 2018

6th World Congress on Control and Prevention of HIV/AIDS, STDs & STIs

Hilton Zurich Airport, Zurich, Switzerland
August 27-28, 2018

9th International Conference on Emerging Infectious Diseases

Hilton Zurich Airport, Zurich, Switzerland
August 29-30, 2018

5th Annual Congress on Rare Diseases and Orphan Drugs

Boston, Massachusetts, USA
August 29-30, 2018

4th Annual Congress on Infectious Diseases

Boston, Massachusetts, USA
September 03-04, 2018

Global Experts Meeting on Infectious Diseases

Tokyo,Japan
September 27-29, 2018

10th Euro-Global Conference on Infectious Diseases

Rome, Italy
(Holiday Inn Rome Eur Parco dei Medici)
November 6-7, 2018

Global Experts Meet on STD-AIDS and Infectious Diseases

Auckland, New Zealand
November 12-13, 2018

11th Global Infections Conference

Melbourne, Australia
November 15-16, 2018

6th Annual Conference on Parasitology & Infectious Diseases

Istanbul, Turkey
November 22-23, 2018

8th International Conference on Bacteriology and Infectious Diseases

Cape Town, South Africa
Dec 05-06, 2018

6th International Conference On Infectious Diseases

Lisbon, Portugal
December 05-07, 2018

World Congress on Rare Diseases

Dubai, UAE
December 6-7, 2018

14th World Congress on Infection Prevention and Control

Valencia, Spain
Feb 25-26, 2019

6th International Congress on Infectious Diseases

London, United Kingdom

Rare Pediatric Diseases Conference Speakers

Recommended Sessions

Related Journals

Are you interested in