Denise Yan

I have been working in human and molecular genetics over the last 15 years. I have done disease gene mapping (both single gene and complex disorders), genotype-phenotype correlations, and dissecting the genetic heterogeneity of Mendelian disorders. As a postdoctoral fellow at the University of Michigan, I contributed to research on the molecular genetics of retinal dystrophies and congenital blindness, and helped develop methods for cloning genes involved in retinal degeneration. I conducted at the Johns Hopskins University, as a research scientist, studies on hypertension. Our research involved population-based (African-American versus Caucasian populations) investigation using high-throughput genome-wide genotyping assays, for a very large sample set of individuals (thousands). We found that the pattern of linkage disequilibrium (LD) within a gene was very heterogeneous. There was less LD among African-American, the number of haplotypes was substantially larger, and shorter haplotype segments were found, compared with Caucasians. These findings have implications for candidate-gene association studies and indicate that variation between populations of European and African origin in haplotype diversity is characteristic of most genes. At the University of Miami, I have been dedicated in studying the genetics of deafness. I have been actively working on the gene identification, phenotypic variation and ethnic distribution of specific deafness-related genes. I have successfully applied both microsatellites and SNPs data for mapping deafness loci and identified new hearing loss-related genes using both traditional and innovative approaches.

My teaching interest include basic principles and the latest developments in mammalian genetics with emphasis on human and mouse genetics, as well as other areas directly related to human genetics and genomics.

Hereditary hearing loss is the most common sensory defect and shows the highest degree of genetic heterogeneity. Non-syndromic hearing loss (NSHL; hearing loss that is not associated with other physical signs and symptoms) accounts for more than 70% of genetic deafness and can follow a pattern of autosomal recessive, autosomal dominant, X-linked, and mitochondrial inheritance. The extreme genetic heterogeneity of NSHL with more than 140 genetic loci currently mapped and over 100 genes identified (Hereditary Hearing LossHomepage, http://hereditaryhearingloss.org/) has proven a major challenge for genetic testing and counseling. The advent of next-generation sequencing (NGS) technologies can overcome these limitations through its high-throughput capacity to perform parallel sequencing of billions of DNA molecules.
My research areas of interest include mapping/identification of new deafness genes using traditional and NGS approaches, analysis of human sequence data in families and populations to address fundamental aspects of inheritance or its phenotypic manifestation at the molecular, cellular, organismal or population level. Genetic and molecular investigations are also conducted to study human-derived cells and lines, model-organism interrogation of human genetic alleles.