Project description:This study examines the best way to teach genetics to family medicine residents. First year family medicine residents at the University of Toronto will be taught basic clinical genetics as well as a specific disease in genetics via 3 different educational methods. All participants will undergo an oral examination and written knowledge test 3 months after this education. Results between groups will be compared, and the best way to teach genetics to residents determined.

| 2030694 | ecrin-mdr-crc

Genetic and Environmental interactions contribute to immune variation in rewilded mice

Project description:The relative and synergistic contributions of genetics and environment to inter-individual immune response variation remain unclear, despite its implications for understanding both evolutionary biology and medicine. We used single cell RNA sequencing (scRNA-seq) to quantify the interactive effects of genotype and environment on immune traits by investigating three inbred mouse sttrain rewilded in an outdoor enclosure and infected with the parasite, Trichuris muris

2024-04-29 | GSE236347 | GEO

The Vaginal Microbiome: Disease, Genetics and the Environment

Project description:The Vaginal Microbiome: Disease, Genetics and the Environment

| PRJNA74947 | ENA

A common cis-regulatory variant impacts normal-range and disease-associated human facial shape through regulation of PDKCC during chondrogenesis [HiChIP]

Project description:Genome-wide association studies (GWAS) identified thousands of genetic variants linked to phenotypic traits and disease risk. However, mechanistic understanding of how GWAS variants influence complex morphological traits and can, in certain cases, simultaneously confer normal-range phenotypic variation and disease predisposition, is still largely lacking. Here, we focus on rs6740960, a single nucleotide polymorphism (SNP) at the 2p21 locus, which in GWAS studies has been associated both with normal-range variation in jaw shape and with an increased risk of non-syndromic orofacial clefting. Using in vitro derived embryonic cell types relevant for human facial morphogenesis, we show that this SNP resides in an enhancer that regulates chondrocytic expression of PKDCC - a gene encoding a tyrosine kinase involved in chondrogenesis and skeletal development. In agreement, rs6740960 SNP is sufficient to confer a large difference in acetylation of its cognate enhancer preferentially in chondrocytes. By deploying dense landmark morphometric analysis of skull elements in mice, we show that changes in Pkdcc dosage are associated with quantitative changes in maxilla, mandible, and palatine bone shape that are concordant with the facial phenotypes and disease predisposition seen in humans. We further demonstrate that the frequency of the rs6740960 variant strongly deviated among different human populations, and that the activity of its cognate enhancer diverged in hominids. Our study provides a mechanistic explanation of how a common SNP can mediate normal-range and disease-associated morphological variation, with implications for the evolution of human facial features.

2023-06-23 | GSE212226 | GEO

A common cis-regulatory variant impacts normal-range and disease-associated human facial shape through regulation of PDKCC during chondrogenesis [ChIP-seq]

2023-06-23 | GSE212225 | GEO

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