La genómica y la medicina personalizada: ¿Que haremos en México?

Resumen

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Citas

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Piña-Aguilar RE, Zaragoza-Arévalo GR, Rau I, Gal A, Alcántara-Ortigoza MA, López-Martínez MS, Santillán-Hernández Y. Mucopolysaccharidosis type II in a female carrying a heterozygous stop mutation of the iduronate-2-sulfatase gene showing a skewed X chromosome inactivation. Eur J Med Genet. 2013;56(3):159-62.

Chacon-Camacho OF, Villegas-Ruiz V, Buentello-Volante B, Piña-Aguilar RE, Peláez-González H, Ramírez M, González-Rodríguez J, Zenteno JC. Acro-spondylo-pubic dysostosis associated with cataracts, microcephaly, and normal intelligence. Am J Med Genet A. 2015;167A(2):282-6.

Chacón-Camacho OF, Sobreira N, You J, Piña-Aguilar RE, Villegas-Ruiz V, Zenteno JC. Exome sequencing identifies a de novo frameshift mutation in the imprinted gene ZDBF2 in a sporadic patient with Nasopalpebral Lipoma-coloboma syndrome. Am J Med Genet A. 2016;170(7):1934-7.

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Piña-Aguilar RE, Vera-Loaiza A, Chacón-Camacho OF, Zenteno JC, Nuñez-Orozco L, Santillán-Hernández Y. Clinical and genetic characteristics of mexican patients with juvenile presentation of niemann-pick type C disease. Case Rep Neurol Med. 2014;2014:785890.

Redin et al. The Genomic Landscape of Balanced Cytogenetic Abnormalities Associated with Human Congenital Anomalies. Accepted at Nature Genetics

EXAC Project, exac.broadinstitute.org/

https://www.whitehouse.gov/precision-medicine

Center for Mendelian Genomics, http://mendelian.org/

Undiagnosed disease program, NIH, https://www.genome.gov/27550959/undiagnosed-diseases-network-udn/

Genomics England 100,000 genomes project, http://www.genomicsengland.co.uk/

Silva-Zolezzi I, Hidalgo-Miranda A, Estrada-Gil J, Fernandez-Lopez JC, Uribe-Figueroa L, Contreras A, Balam-Ortiz E, et al. Analysis of genomic diversity in Mexican Mestizo populations to develop genomic medicine in Mexico. Proc Natl Acad Sci U S A. 2009;106(21):8611-6.

Moreno-Estrada A, Gignoux CR, Fernández-López JC, Zakharia F, Sikora M, Contreras AV, et al. Human genetics. The genetics of Mexico recapitulates Native American substructure and affects biomedical traits. Science. 2014;344(6189):1280-5.

SIGMA Type 2 Diabetes Consortium, Williams AL, Jacobs SB, Moreno-Macías H, Huerta-Chagoya A, Churchhouse C, et al. Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico. Nature. 2014;506(7486):97-101.

SIGMA Type 2 Diabetes Consortium, Estrada K, Aukrust I, Bjørkhaug L, Burtt NP, Mercader JM, et al. Association of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population. JAMA. 2014;311(22):2305-14.

González-Sobrino BZ, Pintado-Cortina AP, Sebastián-Medina L, Morales-Mandujano F, Contreras AV, Aguilar YE, et al. Genetic Diversity and Differentiation in Urban and Indigenous Populations of Mexico: Patterns of Mitochondrial DNA and Y-Chromosome Lineages. Biodemography Soc Biol. 2016;62(1):53-72.