Patrizia Casaccia, MD, PhD
- ADJUNCT PROFESSOR | Neuroscience
Research Topics:Aging, Axonal Growth and Degeneration, Cell Biology, Cell Cycle, Cellular Differentiation, Chromatin, Demyelination, Developmental Neurobiology, Epigenetics, Gene Regulation, Molecular Biology, Multiple Sclerosis, Myelination, Neuro-degeneration/protection, Neurobiology
Dr. Patrizia Casaccia is Professor of Neuroscience, Genetics and Genomics; and Neurology. Dr. Casaccia is the Chief of the Center of Excellence for Myelin Repair at the Friedman Brain Institute at Mount Sinai School of Medicine.
She received her medical degree with Honors from the University of Rome, and a PhD degree in Neurobiology from State University of New York (SUNY) Health and Science Center Brooklyn. She then trained at Cornell Weill Medical Center in New York and at the Skirball Institute for Molecular Medicine at NYU.
Dr. Casaccia’s work adopts molecular and cellular techniques to find new therapies for multiple sclerosis. Her work includes translational research in regenerative and personalized medicine. The laboratory focuses on myelin repair with a special emphasis on the effect of aging and gender differences. In addition, her research addresses the mechanism of neuronal damage in patients with MS leading to novel screening for the discovery of new therapies to protect the neurons and replace damaged myelin.
The new methodologies leading to personalized medicine include the generation of neural stem cells from patients' skin, and the analysis of DNA and RNA from the blood of multiple sclerosis patients. Her work is funded by grants from the National Institute for Neurological Disorders and Stroke and by the National Multiple Sclerosis Society.
Epigenetic control of progenitor differentiation in development and diseases of the central nervous system
Mechanism of axonal damage
Neural stem cells: mechanisms of proliferation and tumorigenesis
In vivo imaging
Primary cultures from rodent brains
Human brain studies
Visit Dr. Patrizia Casaccia's Laboratory of Epigenetics of Neural Repair for more information.
Multi-Disciplinary Training AreasGenetics and Genomic Sciences [GGS], Neuroscience [NEU], Pharmacology and Therapeutics Discovery [PTD]
MD, Policlinico A. Gemelli
Cornell Weill Medical Center
Policlinico A. Gemelli
Skirball Institute for Biomolecular Medicine at NYU
Casaccia Laboratory, Epigenetics of Neural RepairDr. Casaccia’s lab adopts state-of-the art molecular and cellular techniques to define key questions in developmental neurobiology and find new therapies for Multiple Sclerosis and several other disorders characterized by lost or damaged myelin (including premature babies, genetic disorders, traumatic brain injury).
Four Research Areas:
1. Epigenetic Regulation of Gene Expression
2. Developmental Neurobiology
3. Translational Research (Drug Discovery for Myelin Repair and preservation of Axonal function)
4. Personalized Medicine of Demyelinating Disorders
Oligodendrocytes are the myelin-forming cells of the CNS and are essential for proper functioning of neural circuits. These cells are damaged by a wide variety of stimuli, ranging from prematurity in babies to ischemic or immunological attacks in adult brains (i.e. Multiple Sclerosis). Using mouse and rat models, chromatin immunoprecipitation, proteomics, and genome-wide screens we are defining the mechanisms responsible for the differentiation of multipotential progenitors and neural stem cells into myelin-forming cells. The goal of these studies is to understand how myelin-forming cells are generated during normal development in order to better understand mechanisms of de-regulated differentiation (i.e. cancer) and to design therapies for repairing aberrant or defective formation of oligodendrocytes in children (i.e. Canavan disease, etc.) and demyelination caused by stroke, inflammatory demyelination, spinal cord injury or trauma, in the adult brain.
Project #1: Epigenetic Regulation of Gene Expression
Even though they all have the same DNA, each cell type expresses a set of specific genes and retains a precise “MOLECULAR MEMORY” of cell identity. This area of research in the lab is aimed to answering the following questions:
- How do distinct cells acquire their UNIQUE identity within an organism? (How does an oligodendrocyte “know to make myelin” rather than producing digestive enzymes?)
- What are the mechanisms that allow stability and homeostasis?
- Does AGE, or disease alter the mechanism regulating cell identity ?
Project #2: Developmental Neurobiology
How does a progenitor decide to become an oligodendrocyte ? What happens to the nuclear architecture during this transition? What is the relationship between proliferation and differentiation? Are progenitors intrinsically “biased” towards a myelinating or non-myelinating phenotype? Can this bias be modulated by the environment?
Project #3. Repair of Demyelinated Lesions
Multiple sclerosis is a disease characterized by clinical symptoms that are consequent to myelin damage. Recovery of function can be obtained only after progenitors differentiate into myelinating oligodendrocytes and form new myelin. Because the clinical course of demyelinating diseases results from a disequilibrium between damage and repair we are tackling the problem from both ends: reduce damage and enhance repair by developing new drugs. In collaboration with the group of Chemical Epigenomics at Mount Sinai, we are screening newly synthesized pharmacological compounds in brain cells from rodents and humans, for their ability to form new myelin. The most promising molecules are then tested inmice for the ability to enhance recovery from experimentally induced demyelination.
Project #4. Personalized Medicine of Demyelinating Disorders
The overall idea that we are testing, in collaboration with the Corinne Goldsmith Center for Multiple Sclerosis is that each patient has a unique “signature” which results from the interplay of genes, environment, gender and age. We believe that this signature modulates the course of the disease and the response to therapy and can be identified by analyzing DNA and RNA from MS patients, by adopting molecular and cellular techniques.
For each patient we want to create a “personalized” disease-model in a dish, using the latest induced Pluripotent Stem Cell technology.
Once this model is established, hundreds of commercially available and newly synthesized pharmacological agents can be screened using robotic technology, to define novel personalized strategies that will decrease disability and enhance repair.
Physicians and scientists on the faculty of the Icahn School of Medicine at Mount Sinai often interact with pharmaceutical, device and biotechnology companies to improve patient care, develop new therapies and achieve scientific breakthroughs. In order to promote an ethical and transparent environment for conducting research, providing clinical care and teaching, Mount Sinai requires that salaried faculty inform the School of their relationships with such companies.
Dr. Casaccia did not report having any of the following types of financial relationships with industry during 2022 and/or 2023: consulting, scientific advisory board, industry-sponsored lectures, service on Board of Directors, participation on industry-sponsored committees, equity ownership valued at greater than 5% of a publicly traded company or any value in a privately held company. Please note that this information may differ from information posted on corporate sites due to timing or classification differences.
Mount Sinai's faculty policies relating to faculty collaboration with industry are posted on our website. Patients may wish to ask their physician about the activities they perform for companies.