Molecular Medicine & Human Genetics

Chromosomes graphic

A new era in medical intervention is on the horizon, enabled by revolutionary advances in genetics and genomics. The Human Genome Project has changed our approach to biology and medicine. As the power of the genome sequence became evident, technologies have also rapidly advanced, allowing acquiring sequence data from individuals at a phenomenal pace and increasingly lower costs. Massively parallel sequencing (also known as next-generation, or NextGen, sequencing) has ushered in the era of genomic and genetic medicine. Now, equipped with the patient's genome sequence, scientists can diagnose genetic disease, identify future disease risk, home in on disease modifiers, and predict drug responses.

Researchers in the Department of Molecular Genetics have led the world to identify single genes that, when mutated, cause diseases such as cystic fibrosis, Duchenne muscular dystrophy, myotonic dystrophy, neurofibromatosis and retinoblastoma. Now, researchers elucidate the more complex genetic basis of many multi-gene major disabling and fatal diseases, including autism, muscular dystrophies, heart disease, stroke, diabetes, and several kinds of cancer.  Identifying disease-association genes and their products will facilitate a better understanding of their function, as it paves the way towards effective diagnostics, therapeutics and preventative measures.

Identifying the gene is only one step towards understanding how it causes disease.  Researchers in the focus area of Molecular Medicine and Human Genetics use cells and organisms as models for human disease to understand how gene mutations affect functions and find ways to ameliorate the clinical outcome. As the sequencing revolution changed our approach to science, a genetic revolution is underway with the discovery of RNA-guided nuclease systems such as CRISPR/Cas9, which allow for the engineering of any mutation to be created or corrected in virtually any cell or organism. Therefore, a genetic or genomic analysis of patient samples to study inherited diseases and susceptibility to disease is only the beginning, as new models to understand disease are developed and used to improve treatments.

Scientific approaches and disease areas overlap extensively with other Molecular Genetics research focus groups to form an interdisciplinary, cross-institution community at the forefront of science nationally and internationally. 

See our participating faculty here