UNAM
Revista Digital Universitaria
Revista Digital Universitaria ISSN: 1607 - 6079 | Publicación mensual | 1 de junio de 2014 vol.15, No.06

ABSTRACT

The new approach of mendelian disorders



Alessandra Carnevale


Molecular and genomic technologies have allowed the mapping and identification of genes and mutations causing mendelian disorders. With these findings it is possible to understand the mechanisms underlying the diseases and search for novel and personalized treatments. Studies in Mexican patients with different mendelian disorders have demonstrated marked differences in frequency of mutations and novel DNA variants showing the need of studying our population.



Keywords: Rare disorders, mendelian diseases, causal genes, mutations.