You are here: Home / Research / Upcoming Seminars / Nicola Brunetti Pierri, MD - "New therapies for inborn errors of metabolism"

Nicola Brunetti Pierri, MD - "New therapies for inborn errors of metabolism"

Associate Investigator, TIGEM, Pozzuoli (NA) and Associate Professor, Department of Translational Medicine, University of Naples "Federico II', Italy
When Jan 14, 2020
from 12:00 PM to 01:15 PM
Where Tigem, Auditorium Vesuvius
Contact Name
Contact Phone 08119230659
Add event to calendar vCal
iCal

Short CV

Abstract

Inborn errors of metabolism (IEM) are characterized by dysregulation of the metabolic networks that underlie development and homeostasis. Because of their prevalence, severity and lack of effective treatments, IEM need novel and more effective therapeutic approaches. The opportunity for an early treatment from expanded newborn screening has made this need even more urgent. Lactic acidosis and hyperammonemia are metabolic abnormalities occurring in IEM but also in several non-genetic diseases. My talk will focus on the development of novel pharmacological treatments for two severe and life-threatening metabolic alterations. Moreover, the studies that will be discussed illustrate how the development of novel therapies for rare IEM can lead to new treatments for metabolic alterations occurring in far more common multifactorial disorders.

Filed under: