Biomedical Genetics

We are investigating the influence of genetic variation on the nature, expression and evolution of different human diseases and physiological processes. Many of these studies focus on the role of mitochondria in bioenergetics, but some examine other parts of the genome and their involvement in health and disease.

Mitochondrial Diseases

Transmission electron micrograph of a longitudinal section of a mitochondrion and surrounding cytoplasm from pancreas. This image shows the double membrane structure and cristae in the interior of the organelle, which sits just above the endoplasmic reticulum. Credit: Keith R. Porter / Science Source

Molecular Epidemiology

An image illustrating different molecular biology methods for DNA modification and analysis. Source: https://www.innerbody.com/dna-testing/dna-health-testing

mtDNA Evolution and Adaptation

A schematic drawing showing the sequence organization of the mitochondrial DNA
The diagram shows the non-coding control region and protein-coding genic regions. The colors indicate the oxidative phosphorylation complexes to which mitochondrial-encoded proteins help form. Source: Figure 1 from Amorim A, Fernandes T, Taveira N. 2019. Mitochondrial DNA in human identification: A review. PeerJ 7:e7314.

mtDNA Variation and Aging

An image referencing the genetic influence on aging and senescence
U Javier Zarracina; https://geneticliteracyproject.org/2020/02/13/new-dna-clock-finds-that-if-our-genes-had-their-way-humans-would-have-a-natural-lifespan-of-38-years/

Laboratory of Molecular Anthropology
University of Pennsylvania
421 University Museum
3260 South Street
Philadelphia, PA 19104-6398
Tel: 215-573-2656