#ACTRIMS2020 – Keynote Speaker Peter Calabresi to Discuss Link Between Genetics and MS Severity

#ACTRIMS2020 – Keynote Speaker Peter Calabresi to Discuss Link Between Genetics and MS Severity
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Specific mutations in genes that provide instructions to make two proteins —  called C3 and C1q — are linked to increased severity of multiple sclerosis (MS), according to new research.

The new finding will be presented by Johns Hopkins University School of Medicine researcher Peter Calabresi, MD, during his keynote Kenneth P. Johnson Memorial Lecture on the first day of the Americas Committee for Treatment and Research in Multiple Sclerosis (ACTRIMS) Forum 2020, to be held Feb. 27–29, in West Palm Beach, Florida.

The progression of MS is unpredictable. While some individuals progress quickly to a disabled state, others experience only mild symptoms. This motivated Calabresi, professor of neurology and neuroscience and director of the Johns Hopkins Multiple Sclerosis Center, to investigate a possible link between genetics and the severity of disease.

His recent findings indicate that increased severity of MS is linked to mutations in C3 and C1q — two components of the complement cascade. The complement is a part of the immune system that enhances the ability of antibodies and immune cells to clear microbes and damaged cells, and to promote inflammation.

Several autoimmune diseases — including MS — show increased activation of complement proteins, leading to hyper-activation of the immune system.

During his lecture at ACTRIMS, Calabresi also will discuss how these findings may help improve ways by which MS and other neurodegenerative diseases are treated. The researcher believes that the results can help develop strategies to block disease progression, and improve the repair of myelin (the protective coating of nerve cells that is damaged in MS).

The fact that certain genetic mutations are associated with MS is not a new finding; the novelty of Calabresi’s work is the identification of specific genetic variants associated with more severe damage.

Another topic of research by Calabresi’s team revolves around identifying why remyelination fails in MS.

Remyelination is a normal process in the healthy brain in which oligodendrocytes (a type of brain cell) produce new myelin sheaths. Calabresi’s team suggests that inhibition of pro-inflammatory oligodendrocyte precursor cells, which eventually mature into oligodendrocytes, can help improve MS.

The team hopes that findings from this research also will provide insight on how to reprogram oligodendrocytes to make myelin.

“While there are many immune-modulating therapies for relapsing and inflammatory forms of progressive MS, there is an unmet need for therapies that target non-inflammatory mechanisms of tissue injury,” Calabresi said in a press release.

“Complement inhibition and suppression of inflammatory oligodendrocyte precursor cells are novel approaches that may directly address mechanisms of brain injury involved in progression of MS,” he said.

Furthermore, other studies of progressive MS using sensitive biomarkers will allow researchers to determine other pathways that can be targeted. This data may lead to treatments for neurodegenerative diseases beyond MS.

The late Kenneth P. Johnson, MD, founded ACTRIMS in 1995. The Memorial Lecture, given this year by Calabresi, honors Johnson by giving an opportunity for people to hear from prestigious clinicians or researchers who are chosen based on their knowledge, achievements, and contributions in the MS field.

The ACTRIMS Forum attracts more than 1,000 researchers and clinicians every year. The theme of this year’s meeting is “Networks in MS.”

Iqra holds a MSc in Cellular and Molecular Medicine from the University of Ottawa in Ottawa, Canada. She also holds a BSc in Life Sciences from Queen’s University in Kingston, Canada. Currently, she is completing a PhD in Laboratory Medicine and Pathobiology from the University of Toronto in Toronto, Canada. Her research has ranged from across various disease areas including Alzheimer’s disease, myelodysplastic syndrome, bleeding disorders and rare pediatric brain tumors.
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Patrícia holds her PhD in Medical Microbiology and Infectious Diseases from the Leiden University Medical Center in Leiden, The Netherlands. She has studied Applied Biology at Universidade do Minho and was a postdoctoral research fellow at Instituto de Medicina Molecular in Lisbon, Portugal. Her work has been focused on molecular genetic traits of infectious agents such as viruses and parasites.
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Iqra holds a MSc in Cellular and Molecular Medicine from the University of Ottawa in Ottawa, Canada. She also holds a BSc in Life Sciences from Queen’s University in Kingston, Canada. Currently, she is completing a PhD in Laboratory Medicine and Pathobiology from the University of Toronto in Toronto, Canada. Her research has ranged from across various disease areas including Alzheimer’s disease, myelodysplastic syndrome, bleeding disorders and rare pediatric brain tumors.
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