Mouse Model Project 1*

Generating and investigating in vivo PolG mouse models to unravel the mechanistic pathogenesis of PolG-related disorders.


Maria Falkenberg, Ph.D.

Maria Falkenberg is a professor of medical biochemistry at the University of Gothenburg. She is a leading expert in mitochondrial DNA replication with 25 years of experience in medical biochemistry. Her laboratory studies mitochondrial DNA polymerase (PolG) and how disease-causing mutations in this protein disturb normal mitochondrial function. Her work has been published in journals such as Nature, Molecular Cell and Proc. Natl. Acad. Sci. USA. Maria is a member of the Royal Swedish Academy of Sciences. She holds a Ph.D. in medical biochemistry from the University of Gothenburg and performed 2.5 years of undergraduate training at the Stanford University School of Medicine. She was a postdoctoral fellow at the Karolinska Institutet.

Carlo Viscomi, Ph.D.

Carlo Viscomi is associate professor of biomedical sciences at the Università di Padova. In his work, he has explored numerous strategies to fight mitochondrial diseases and in recent work, Carlo has established the first mouse models for disease-causing mutations in the mitochondrial DNA polymerase (PolG). These models are now used to understand disease progression and probe ways to cure affected patients. Carlo’s work can be found published in journals such as Nature Medicine, Nucleic Acids Res. and EMBO Molecular Medicine. He holds a Ph.D. in physiology from the University of Milano and conducted postdoctoral training at the I.R.C.C.S. Istituto Neurologico C.Besta in Milano.

Massimo Zeviani, Ph.D.

Massimo Zeviani is professor of neurology at the Università di Padova and group leader at the Veneto Institute for Molecular Medicine, Padova, Italy. His research group has discovered a huge number of disease mutations in mitochondrial DNA polymerase (PolG) and investigated the underlying, disease-causing mechanisms, with the ultimate goal of finding ways to cure affected patients. He is also working towards establishing a center of excellence for high-throughput, precision medicine to study patients, particularly children, with mitochondrial disease from the clinical, biochemical and genetic standpoints. Massimo’s work can be found published in journals such as Nature, Nature Genetics, Lancet and Cell Metabolism. He holds an M.D. from Università di Padova and a Ph.D. from Université de Paris Descartes.

PolG Mouse Model Project 2*

Development and preclinical validation in mice of a gene therapy treatment for PolG disease.


Cat Lutz, Ph.D.

Cat Lutz is the Senior Director of the Rare and Orphan Disease Center as well as the In Vivo Pharmacology and Drug Efficacy Testing Service. She serves as the principal investigator/co-investigator of multiple NIH-sponsored programs, including the Center for Precision Genetics, The Somatic Cell Genome Editing program and the Mutant Mouse Resource and Research Center (MMRRC). Dr. Lutz has over 30 years of experience in mouse genetics, with a primary focus on modeling human disease and seeking therapies for rare diseases, such as spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD). Dr. Lutz was recently awarded the 2021 Rare Impact Award by the National Organization for Rare Disorders (NORD).

Metodi D. Metodiev, Ph.D.

Metodi Metodiev works at the Imagine Institute for Genetic Diseases in Paris, France and is a permanent research associate with the French National Institute of Health and Medical Research (INSERM). Metodi received his Ph.D. from the University of Cologne, Germany where he studied the regulation of proteolysis in yeast and mammalian mitochondria. He did his postdoctoral research at the Karolinska Institutet in Stockholm, Sweden and the Max Planck Institute for Biology of Aging in Cologne. These early career experiences cultivated in him a strong desire to apply his knowledge and skill set to the field of mitochondrial medicine. Therefore in 2013, Metodi joined the Imagine Institute for Genetic Diseases, where he has since been using cellular and mouse models of mitochondrial dysfunction to understand the pathophysiology of mitochondrial diseases. His ultimate goal is to apply this understanding to the development of efficient treatments for these devastating and currently incurable pathologies.

Arnold Munnich, M.D., Ph.D.

Since 1979, Arnold Munnich has dedicated his life to the identification of genes responsible for neurological, metabolic, malformed and sensorial handicaps in children. The M.D., Ph.D., researcher and author has served as Professor of Genetics at Université de Paris Descartes and directed the Inserm unit "Genetic handicaps of the child" at Necker– Enfants Malades Hospital, where he helped found the Imagine Institute (Institut des Maladies Génétiques). A member of the French Academy of Sciences since 2004, Professor Munnich served as biomedical and health research advisor to French President Nicolas Sarközy from 2008-2012 and in 2014, received the Grand Prize of the City of Paris for Medical Research and was awarded the Légion d’Honneur. His prize-winning work has turned genetic research into practical applications for the treatment and care of people battling genetic handicaps, as well as their families.

Steve Murray, Ph.D

Dr. Steve Murray has nearly 20 years of experience developing and studying mouse models of disease, including congenital malformations and other rare diseases. Much of his program focuses on the large-scale generation of mouse genetic resources for the greater scientific community, including the Knockout Mouse Phenotyping Program, which aims to interrogate gene function through the systematic deletion of every gene in the genome and to characterize the outcomes in mice. His research focus includes the development and application of new technologies and methods to model rare disease mutations in mice. He is one of the principal investigators of the JAX Center for Precision Genetics at The Jackson Laboratory, which aims to build new models for rare disease with the goal of advancing therapeutic strategies and he leads a core component of the Somatic Cell Genome Editing Consortium, a large, multi-investigator effort to accelerate the use of genome editing technology for therapeutic benefit. He earned his Ph.D. from Boston University School of Medicine and did his postdoctoral training at The Jackson Laboratory.

Agnès Rötig, Ph.D.

Agnès Rötig is the research director (DR1, INSERM) of the Imagine Institute. She completed her Ph.D. in mitochondrial biology at Université Pierre et Marie Curie. She did postdoctoral training in INSERM U12 at Hôpital Necker Enfants Malades, during which she built her research group in the field of mitochondrial disorders in close collaboration with the Genetics Unit of Hôpital Necker Enfants Malades. By using gene mapping, candidate gene analysis and now next generation sequencing, she has described several novel genes responsible for these disorders.

Benedetta Ruzzenente, Ph.D.

Benedetta Ruzzenente is a permanent research associate with the French National Institute of Health and Medical Research (INSERM), working at the Imagine Institute for Genetic Diseases in Paris, France. Benedetta received her Ph.D. from the Universita di Padova (Italy), where she studied the regulation of mitochondrial and cytosolic deoxyribonucleotide pools. Her postdoctoral research took place first at the Karolinska Institutet (Stockholm, Sweden) and then at the Max Planck Institute (Cologne, Germany) where she studied the molecular mechanisms regulating mitochondrial gene expression using mouse genetics. In 2015, she joined the Genetics of Mitochondrial Disorders unit at the Imagine Institute with the goal of understanding the molecular mechanism of mitochondrial diseases and developing treatments for these conditions.

Imagine Institut

As the leading European center for research, care and education on genetic diseases, Imagine’s goal is to change the lives of families affected by genetic diseases. To achieve this goal, Imagine focuses on four major areas: research, innovative care, education and promotion. At Imagine, patients with genetic diseases are at the heart of the virtuous circle. Created by the Institute’s founders, this circle begins with the patient and finishes by curing the patient or at least relieving their suffering. Imagine brings together in one building all the skills and expertise necessary to accelerate research, develop innovative care and generate synergies and conditions to drive innovation.

The Jackson Laboratory

Here at The Jackson Laboratory (JAX), our team of nearly 3,000 people are working toward one goal — to discover precise genomic solutions for disease and empower the global biomedical community in our shared quest to improve human health. JAX is a world leader in mammalian genetics and human genomics research. Founded in 1929 in Bar Harbor, Maine, The Jackson Laboratory is an independent, nonprofit research institution with locations in Maine, Connecticut, California, Japan and China.

*Research initiated by the Co-Founders, prior to the incorporation of the POLG Foundation, to jump start the urgent work of the Foundation.