Undergraduate student of Neurosciences Leonardo Hernández presenting his work on the epidemiology of Cerebrovascular Diseases at the Palacio de Medicina from UNAM, CDMX. In the Neurosymposium 2024

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

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

Xóchitl Díaz at the Días Académicos LIIGH talks about her simulation project evaluating different regression methods.

Publication led by Liat Salzer‐Sheelo, Avi Fellner, and Naama Orenstein at the Schneider Children’s medical center in Tel Aviv Israel, Biallelic truncating variants in the muscular A‐type lamin‐interacting 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

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

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…

‘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

‘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

‘Genome-wide survey of parent-of-origin-specific associations across clinical traits derived from electronic health records’ is now available at Human Genetics and Genomics Advances. Parent-of-origin (PoO) effects are differential phenotypic impacts of genetic variants dependent on their parental inheritance due to imprinting. While PoO effects can influence complex traits, they may be poorly captured by models that…