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
- Childhood Stroke
- Autoimmune Diseases
Related Conference of Rare Pediatric Diseases
January 30-31, 2025
9th International Conference on Infectious Diseases: Control and Prevention
London, UK
May 21-22, 2025
12th International Conference on Infectious Diseases, Bacteriology and Antibiotics
Paris, France
June 16-17, 2025
5th International Conference on Microbiology and Infectious Diseases
Amsterdam, Netherlands
June 24-25, 2025
6th Annual Meeting on Infectious Diseases, Microbiology & Beneficial Microbes
Paris, France
October 06-07, 2025
13th World Congress on Control and Prevention of HIV/AIDS, STDs & STIs
Las Vegas, USA
Rare Pediatric Diseases Conference Speakers
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