Isaac Marin-Valencia
Icahn School of Medicine at Mount Sinai, NY·Neuroscience
The developing brain needs large amounts of energy and building materials, but scientists know surprisingly little about which chemical pathways supply them at each stage of growth. In more than 1,600 inherited neurometabolic diseases, where a broken metabolic step damages the nervous system, such defects cause serious neurological problems.
- Fields
Neuroscience
Biochemistry
Medicine & Clinical Research
- Topics
brain development
neurodevelopment
brain metabolism
- Grants
- 2 known grants, through Jul 2030
What they work on
- Determine when two proposed metabolic switches start and how long they last in the developing mouse brain: glycolysis to oxidative metabolism, and the propionate-to-succinyl-CoA pathway to pyruvate carboxylation. The project will use 13C isotope tracing.
- Quantify the rates of these metabolic transitions by combining mass spectrometry of 13C-labeled metabolites with mathematical models of central carbon metabolism.
- Identify which brain cell types carry out these developmental metabolic pathways in the mouse brain.
- Build a comprehensive open database of clinical, biochemical, radiological and therapeutic data on all known neurometabolic diseases, the inherited metabolic defects that damage the nervous system.
- Create an intuitive, clinically oriented web application that gives physicians and scientists free access to the neurometabolic disease database.
More about the research
This work tackles brain metabolism from two sides: a laboratory study of how metabolism changes as the healthy brain develops, and an open online resource on these diseases for doctors and scientists.
Why it matters
Neurometabolic diseases affect an estimated 1 in 800 births. They are often progressive, and many doctors lack training in them. A free, structured database could help physicians manage these patients and could support research. Pinpointing when brain metabolism switches during development could reveal windows of vulnerability for neurodevelopmental disorders. This approach could later be applied to patients with neurometabolic disease.
Known grants
From NIH and NSF research grants. Labs often have other funding we can't see.
Closest labs
Michael Pacold
New York University, NY·Biochemistry
Identify metabolic adaptations, such as alternative sources of serine and glycine, that cells need to enter and survive in the low-nutrient brain, and determine whether these arise before or after brain entry.
Geoffrey Markowitz
Rutgers University-New Brunswick, NJ·Microbiology & Immunology
Identify metabolic enzymes whose loss increases generation of TCF1+ progenitor-exhausted CD8+ T cells, using a CRISPR/Cas9 knockout screen in vitro across T cells with different T-cell receptor affinities.
James Hurley
University of Washington, WA·Biochemistry
Determine how daily cycles shape glycogen metabolism, the stored-sugar reserve, in RPE/choroid tissue, using ex vivo and in vivo measurements of metabolic flux and energy stores.
The school
Icahn School of Medicine at Mount Sinai: 45 labs on PI Pages, $1.0B a year on research, 62 research doctorates a year.
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