Mount Sinai Launches Neurometabolomics and Neuroinformatics Core to Combat Rare Brain Diseases
The Icahn School of Medicine at Mount Sinai has launched a neurometabolism program that combines basic science research with a clinic dedicated to the care of patients with brain metabolic diseases. The new core also will be home to intensive collaborative efforts with researchers from around the globe who are committed to working on these rare diseases and other neurological conditions in which metabolism plays a key role.
“We are driven by our love for science and genuinely want to share this passion to move our cause forward,” said pediatric neurologist Isaac Marin-Valencia, MD, MS, head of the Abimael Laboratory of Neurometabolism, which is at the heart of the new initiative. Dr. Marin-Valencia’s brother, Abimael, has a neurodevelopmental condition that causes epilepsy and autistic features. Finding a way to change the course of this devastating disease that severely affects the brain is a driving force behind the endeavor. The ultimate goal is to beat disability in patients with brain metabolic diseases.
The team will use a wide range of analytical tools to elucidate how metabolic derangements caused by inherited metabolic diseases (like mitochondrial diseases or inborn errors of metabolism) disrupt the development, maturation, and aging of the nervous system. These tools include mass spectrometry, spectrophotometry, and nuclear magnetic resonance spectroscopy to identify and measure unknown and known chemical substances that may play a role in these diseases, as well as bioinformatics and mathematical analyses to capture and interpret relevant biological data. The recent acquisition of the latest instrumentation in mass spectrometry, a Shimadzu LCMS-9030 quadrupole time-of-flight, has enabled a significant expansion of the team’s analytic capabilities.
At the same time, their investigations are informed by actual patients. “All the basic science work we do is in the context of real human beings, not just science to generate new knowledge from animal or cell models. It’s for the patients, the children and adults who get these diseases and have no hope at all at this point,” said chemist Carlos Rodriguez-Navas, PhD, Co-Director of the new Neurometabolomics and Neuroinformatics Core.
“Equally important, we put our lab members first,” Dr. Rodriguez-Navas said. “These are the people who are making the discoveries, and every decision we make in the lab aims to inspire them. We want them to come in every day and do the best work of their lives. The magic will flow from there.”
The Mount Sinai team is also sharing their resources and expertise with similarly committed scientists globally who are working to beat disability in people with other neurological diseases. “We guide users from all over the world on how to tackle a metabolic problem and the best way to analyze it,” Dr. Marin-Valencia said. “After performing the pertinent experiments in their own labs, they can submit samples to our core for processing, data analysis, visualization, interpretation, and mathematical modeling. We want to accompany these scientists in the journey of going from an idea to a discovery, from a hypothesis to a grant.”
The neurometabolomics work is applicable to any brain disease, such as Alzheimer’s, Parkinson’s, multiple sclerosis, or addiction, which are not primarily considered to be metabolic conditions, but have a strong metabolic component. Researchers in these areas are already using the core to analyze chemicals from brain, blood, or stools that contain information about how the brain works or interacts with other parts of the body.
“The overarching goal is to advance the mechanistic understanding of neurometabolic conditions, identify and characterize every single metabolite in the nervous system, discover new disease biomarkers and therapeutic targets, and translate this knowledge to the clinic in order to improve patient care,” said Dr. Marin-Valencia. “It’s an ambitious goal that the new core is now bringing to fruition.”