• Press Release

Mount Sinai Launches Neurometabolomics and Neuroinformatics Core to Combat Rare Brain Diseases

New initiative combines the latest analytic technologies, basic research, and a clinic dedicated to the care of patients with inherited brain metabolic conditions

  • New York, NY
  • (February 02, 2023)

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.”

To learn more and meet the team behind this extraordinary endeavor, please see:


About the Icahn School of Medicine at Mount Sinai
The Icahn School of Medicine at Mount Sinai is internationally renowned for its outstanding research, educational, and clinical care programs. It is the sole academic partner for the eight member hospitals* of the Mount Sinai Health System, one of the largest academic health systems in the United States, providing care to a large and diverse patient population. 

Ranked No. 14 nationwide in National Institutes of Health funding and in the 99th percentile in research dollars per investigator according to the Association of American Medical Colleges, Icahn Mount Sinai has a talented, productive, and successful faculty. More than 3,000 full-time scientists, educators, and clinicians work within and across 34 academic departments and 44 multidisciplinary institutes, a structure that facilitates tremendous collaboration and synergy. Our emphasis on translational research and therapeutics is evident in such diverse areas as genomics/big data, virology, neuroscience, cardiology, geriatrics, and gastrointestinal and liver diseases.

Icahn Mount Sinai offers highly competitive MD, PhD, and master’s degree programs, with current enrollment of approximately 1,300 students. It has the largest graduate medical education program in the country, with more than 2,600 clinical residents and fellows training throughout the Health System. In addition, more than 535 postdoctoral research fellows are in training within the Health System.

A culture of innovation and discovery permeates every Icahn Mount Sinai program. Mount Sinai’s technology transfer office, one of the largest in the country, partners with faculty and trainees to pursue optimal commercialization of intellectual property to ensure that Mount Sinai discoveries and innovations translate into health care products and services that benefit the public.

Icahn Mount Sinai’s commitment to breakthrough science and clinical care is enhanced by academic affiliations that supplement and complement the School’s programs. Through Mount Sinai Innovation Partners (MSIP), the Health System facilitates the real-world application and commercialization of medical breakthroughs made at Mount Sinai. Additionally, MSIP develops research partnerships with industry leaders such as Merck & Co., AstraZeneca, Novo Nordisk, and others.

The Icahn School of Medicine at Mount Sinai is located in New York City on the border between the Upper East Side and East Harlem, and classroom teaching takes place on a campus facing Central Park. Icahn Mount Sinai’s location offers many opportunities to interact with and care for diverse communities. Learning extends well beyond the borders of our physical campus, to the eight hospitals of the Mount Sinai Health System, our academic affiliates, and globally.


* Mount Sinai Health System member hospitals: The Mount Sinai Hospital; Mount Sinai Beth Israel; Mount Sinai Brooklyn; Mount Sinai Morningside; Mount Sinai Queens; Mount Sinai South Nassau; Mount Sinai West; and New York Eye and Ear Infirmary of Mount Sinai.

About the Mount Sinai Health System

Mount Sinai Health System is one of the largest academic medical systems in the New York metro area, with 48,000 employees working across eight hospitals, more than 400 outpatient practices, more than 600 research and clinical labs, a school of nursing, and a leading school of medicine and graduate education. Mount Sinai advances health for all people, everywhere, by taking on the most complex health care challenges of our time—discovering and applying new scientific learning and knowledge; developing safer, more effective treatments; educating the next generation of medical leaders and innovators; and supporting local communities by delivering high-quality care to all who need it.

Through the integration of its hospitals, labs, and schools, Mount Sinai offers comprehensive health care solutions from birth through geriatrics, leveraging innovative approaches such as artificial intelligence and informatics while keeping patients’ medical and emotional needs at the center of all treatment. The Health System includes approximately 9,000 primary and specialty care physicians and 11 free-standing joint-venture centers throughout the five boroughs of New York City, Westchester, Long Island, and Florida. Hospitals within the System are consistently ranked by Newsweek’s® “The World’s Best Smart Hospitals, Best in State Hospitals, World Best Hospitals and Best Specialty Hospitals” and by U.S. News & World Report's® “Best Hospitals” and “Best Children’s Hospitals.” The Mount Sinai Hospital is on the U.S. News & World Report® “Best Hospitals” Honor Roll for 2023-2024.

For more information, visit https://www.mountsinai.org or find Mount Sinai on FacebookTwitter and YouTube.