Rare Pediatrics 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.
- Childhood stroke
- Autoimmune diseases
- Congenital malformation
Related Conference of Rare Pediatrics Diseases
May 21-22, 2025
12th International Conference on Infectious Diseases, Bacteriology and Antibiotics
Paris, France
May 21-22, 2025
6th Annual Meeting on Infectious Diseases, Microbiology & Beneficial Microbes
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June 16-17, 2025
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20th World Conference on Infectious Diseases, Prevention and Control
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December 11-12, 2025
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Rare Pediatrics Diseases Conference Speakers
Recommended Sessions
- Challenges in Rare Diseases Treatment
- COVID-19 and Impact on Healthcare
- Different Types of Rare Diseases
- Immunological Rare Diseases
- Orphan Drugs
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