Rare Genetic Diseases/Disorders

A heritable complaint is a medical condition caused by one or farther gene mutations. A chromosomal abnormality or a mutation in a single gene (monogenic) or numerous genes( polygenic) might beget it. Because of the high number of heritable abnormalities, one out of every twenty- one people is affected with a" rare" heritable complaint( generally defined as affecting lower than 1 in, 000 people). The maturities of heritable conditions are rare in and of themselves. The frequency of rare conditions is used to define them rather than unifying pathological or clinical criteria. Rare conditions cover a wide range of pathologies and pathogenesis mechanisms since they are distinguished by their low frequency. Rare heritable conditions serve as a springboard for uncovering new biology that has far- reaching implications for common mortal conditions.

• Rare Endocrine heritable conditions
 
Paediatric Rare inheritable conditions

• Rare Disease Genomics

• Discovery of Rare Genetic conditions


 


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