Bench to Bedside | May 2016

Mitochondrial Medicine Pioneer Inducted to Italian Academy of Sciences

The exclusive membership rolls of the Italian Academy of Sciences that have listed such luminary names as the Italian scientists Volta, Golgi, and Avogadro, and non-Italians Pasteur, Franklin, and Einstein, have recently added a new name familiar to researchers at The Children’s Hospital of Philadelphia: Douglas Wallace, PhD.

Dr. Wallace, director of the Center for Mitochondrial and Epigenomic Medicine (CMEM) at CHOP, was inducted into the Academy during its 234th annual meeting May 5 in Rome. Dr. Emilia Chiancone, as president of the Academy, conducted the ceremony inducting Dr. Wallace as a foreign member of the organization.

“We are deeply honored that this very elite international scientific organization has recognized Dr. Wallace’s accomplishments,” said Bryan Wolf, MD, PhD, chief scientific officer and director of the Research Institute.

Founded in 1782 as the Italian Society, the Italian Academy of Sciences has a mission of encouraging scientific research and disseminating the progress of science to schools and the general public. Its membership is limited to 40 Italian scientists and 25 foreign members.

Dr. Wallace’s induction to the Academy recognizes his scientific contributions as the founder of the field of mitochondrial medicine. During the 1970s, Dr. Wallace defined the genetics of the DNA located in the mitochondria, the “power plants” of the cell, including demonstrating that human mitochondrial DNA is exclusively maternally inherited. The mitochondria are located outside the cell’s nucleus in the cytoplasm, and the mitochondrial DNA codes for the wiring diagram of the power plants. Because it is exclusively and directly passed down from mother to child, the mitochondrial DNA can only change by the sequential accumulation of mutations along radiating maternal lineages.

Applying this fact to the study of human evolution, Dr. Wallace reconstructed the origins and ancient migrations of humans out of Africa and around the world based on sequence analysis of mitochondrial DNAs from global indigenous populations. In the realm of human health, analysis of the mitochondrial DNAs of a diverse array of patients led Dr. Wallace to discover mitochondrial DNA diseases and that mitochondrial DNA variation contributes to a wide range of rare and common metabolic and degenerative diseases as well as cancer and aging, thus founding the field of mitochondrial medicine.

Dr. Wallace joined CHOP in 2010 as the founding director of the CMEM. He is also a professor of Pathology and Laboratory Medicine at CHOP and the Perelman School of Medicine at the University of Pennsylvania. His work here has included finding more key insights into the mechanisms by which mitochondria play a role in numerous metabolic and neurological disorders. For example, he demonstrated that the proportion of mutated mitochondrial DNA in a cell can cause changes in the expression of genes in the cell’s nucleus. He proposed and synthesized evidence for a hypothesis that mitochondria are not just a useful tool to trace the history of evolution, but may have played a critical role in shaping how predecessors of modern humans adapted to their environments. He has demonstrated links between psychological stress and mitochondrial dysfunction, which could be a mechanism of how psychological factors lead to physical illness. His ongoing collaborations at CHOP include studies of mitochondrial function in autism, diabetes, brain development defects, and many more areas.

During the event in Rome, Dr. Wallace presented a lecture on the role of mitochondria in metabolic and degenerative diseases. Dr. Wallace is also a member of the U.S. National Academies of Sciences and Medicine and the American Academy of Arts and Sciences.


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