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<\/a><\/figure><\/div>\n\n\n\nEpidemiology of Cerebrovascular diseases<\/a><\/h1>\n\n
Undergraduate student of Neurosciences Leonardo Hern\u00e1ndez presenting his work on the epidemiology of Cerebrovascular Diseases at the Palacio de Medicina from UNAM, CDMX. In the Neurosymposium 2024 <\/p><\/div><\/div>\n<\/div>\n\n<\/li>
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\n![\"Genetic](\"https:\/\/liigh.unam.mx\/cvanhout\/wp-content\/uploads\/2023\/03\/bbc_reportage.webp\")
<\/a><\/figure><\/div>\n\n\n\nGenetic and functional evidence links a missense variant in\u00a0B4GALT1\u00a0to lower LDL and fibrinogen<\/a><\/h1>\n\n
A new study suggests one in 100 people with grandparents from the Scottish island of Orkney has a specific mutation of the BRCA1 gene. Collaboration with Universities of Edinburgh and Aberdeen. Publication is covered by the BBC: https:\/\/www.science.org\/doi\/10.1126\/science.abe0348 <\/p><\/div><\/div>\n<\/div>\n\n<\/li>
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\n![\"Genome-wide](\"https:\/\/liigh.unam.mx\/cvanhout\/wp-content\/uploads\/2023\/03\/man.webp\")
<\/a><\/figure><\/div>\n\n\n\nGenome-wide significant risk loci for mood disorders in the Old Order Amish founder population<\/a><\/h1>\n\n
Genome-wide significant risk loci for mood disorders in the Old Order Amish founder population, led by Elizabeth Humphries at the University of Maryland Baltimore School of Medicine is now out at Molecular Psychiatry. https:\/\/www.nature.com\/articles\/s41380-023-02014-1 <\/p><\/div><\/div>\n<\/div>\n\n<\/li>
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\n![\"Regression](\"https:\/\/liigh.unam.mx\/cvanhout\/wp-content\/uploads\/2023\/03\/Screen-Shot-2023-02-23-at-11.47.37-a.m..png\")
<\/a><\/figure><\/div>\n\n\n\nRegression Methods D\u00edas Acad\u00e9micos LIIGH 2023<\/a><\/h1>\n\n
X\u00f3chitl D\u00edaz at the D\u00edas Acad\u00e9micos LIIGH talks about her simulation project evaluating different regression methods. <\/p><\/div><\/div>\n<\/div>\n\n<\/li>
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\n![\"Biallelic](\"https:\/\/liigh.unam.mx\/cvanhout\/wp-content\/uploads\/2022\/04\/ene15218-fig-0001-m.jpg\")
<\/a><\/figure><\/div>\n\n\n\nBiallelic truncating variants in the muscular A-typelamin-interacting protein (MLIP) gene cause myopathy withhyperCKemia<\/a><\/h1>\n\n
Publication led by Liat Salzer\u2010Sheelo, Avi Fellner, and Naama Orenstein at the Schneider Children’s medical center in Tel Aviv Israel, Biallelic truncating variants in the muscular A\u2010type lamin\u2010interacting protein (MLIP) gene cause myopathy with hyperCKemia is published in the European Journal of Neurology https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ene.15218 <\/p><\/div><\/div>\n<\/div>\n\n<\/li>
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\n![\"A](\"https:\/\/liigh.unam.mx\/cvanhout\/wp-content\/uploads\/2022\/02\/missense_variant_decreases_lipolysis.jpg\")
<\/a><\/figure><\/div>\n\n\n\nA missense variant Arg611Cys in\u00a0LIPE\u00a0which encodes hormone sensitive lipase decreases lipolysis and increases risk of type 2 diabetes in American Indians<\/a><\/h1>\n\n
Collaborating with the NIDDK, Yunhua Muller lead the publication of the manuscript A missense variant Arg611Cys in LIPE which encodes hormone sensitive lipase decreases lipolysis and increases risk of type 2 diabetes in American Indians, out now in Diabetes\/Metabolism Research and Reviews: https:\/\/onlinelibrary.wiley.com\/doi\/abs\/10.1002\/dmrr.3504 <\/p><\/div><\/div>\n<\/div>\n\n<\/li>
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\n![\"Missense](\"https:\/\/liigh.unam.mx\/cvanhout\/wp-content\/uploads\/2024\/09\/cvan_ldl_GWAS-scaled.jpg\")
<\/a><\/figure><\/div>\n\n\n\nMissense Variant associated with lower LDL and Fibrinogen in Old Order Amish<\/a><\/h1>\n\n
Just out in Science. Missense variant in B4GALT1 associated with ~14mg\/dL lower LDL and 30 mg\/dL fibrinogen present in 6% of Lancaster Old Order Amish, extremely rare elsewhere. Decreased risk of CAD in meta analysis of large populations with electronic health records. Really beautiful mouse model that validates B4GALT1 activity and quantitative trait associations observed… <\/p><\/div><\/div>\n<\/div>\n\n<\/li>
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\n![\"The](\"https:\/\/liigh.unam.mx\/cvanhout\/wp-content\/uploads\/2021\/08\/the_burden_pathogenic.jpg\")
<\/a><\/figure><\/div>\n\n\n\nThe burden of pathogenic variants in clinically actionable genes in a founder population<\/a><\/h1>\n\n
‘The burden of pathogenic variants in clinically actionable genes in a founder population’ now available online at the American Journal of Medical Genetics. https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62472 <\/p><\/div><\/div>\n<\/div>\n\n<\/li>
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\n![\"Genome-wide](\"https:\/\/liigh.unam.mx\/cvanhout\/wp-content\/uploads\/2021\/06\/GWAS_serum_alanine.jpg\")
<\/a><\/figure><\/div>\n\n\n\nGenome-wide association analysis of serum alanine and aspartate aminotransferase, and the modifying effects of BMI in 388k\u00a0European individuals<\/a><\/h1>\n\n
‘Genome-wide association analysis of serum alanine and aspartate aminotransferase, and the modifying effects of BMI in 388k European individuals’ is now out at Genetic Epi. https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/gepi.22392 <\/p><\/div><\/div>\n<\/div>\n\n<\/li>
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![\"Genome-wide](\"https:\/\/liigh.unam.mx\/cvanhout\/wp-content\/uploads\/2021\/06\/GWAS_origin_effects.jpg\")
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