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 14-15, 2026
13th International Conference on Infectious Diseases, Bacteriology and Antibiotics
Paris, France
May 18-19, 2026
6th World Congress on Tuberculosis, Lung Infections, and Respiratory Care
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June 02-03, 2026
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July 20-21, 2026
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18th Global Conference on Nephrology and Infectious Diseases
Amsterdam, Netherlands
October 05-06, 2026
14th World Congress on Control and Prevention of HIV/AIDS, STDs & STIs
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Rare Pediatrics Diseases Conference Speakers
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