# FXTAS Key Molecular Pathways Converge with Other Neurodegenerative Disorders

> **NIH NIH K01** · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · 2022 · $270,915

## Abstract

PROJECT SUMMARY/ABSTRACT
THE CANDIDATE. Dr. Lozano is an early career physician-scientist, who has drawn on his academic
achievement and diverse training in clinical and basic science to develop an independent research program.
Through his work, he has developed laboratory skills in genetics and molecular biology, as well as clinical
research which together form the foundations of this ongoing project.
CAREER DEVELOPMENT. Dr. Lozano's overall long-term career goal is to lead a meaningful and sustainable
research program that will allow him to remain a well-established and independent investigator in the area of
Fragile X-related disorders. These goals will be accomplished through intense mentorship (Drs. Alison Goate
(mentor), Bin Zhang (co-mentor), and George Diaz(co-mentor)), meaningful collaborations, and personalized
didactic mechanisms, which are outlined in this application.
INSTITUTIONAL ENVIRONMENT. The Department of Genetics & Genomic Sciences at the Icahn School of
Medicine at Mount Sinai is a hybrid world-class basic science and clinical program that offers a broad-based
program of instruction, research, and clinical services. The faculty are experts in the application of molecular
biology, data science, and somatic cell approaches for the study of genetic diseases. The environment
provided in the department is ideal for the execution of the studies outlined in this application.
RESEARCH PROJECT. There
In
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hypothesis
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transcriptome
mechanisms,
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with
sclerosis/Frontotemporal
FXTAS
determine
are currently no effective treatments for neurodegenerative disorders (NDDs).
order to develop potential therapeutic targets the underlying biological mechanisms mus be more clearly
Fragile X-associated tremor/ataxia syndrome (FXTAS) ffers an opportunity to gain insights into
pathological mechanisms for an NDD disorder that stems from a defined genetic etiology. The overall
is that protein clearance deficits are exacerbated by polypeptides and mRNA-FMR1 produced from
CGG expansion. This results in neuronal response-driven increases in ubiquitin proteins that are deposited
inclusions, leading to cell dysfuction, reactive inflammatory microglial and eventually neurodegeneration
sequencing (bulk and single nuclei) will be used to qualitatively and quantitatively examine the
 in postmortem human tissue. Since NDDs involve complex and intertwined biological
 an unbiased and hypothesis-free approach for key molecular pathways discovery will be applied.
identify the converging pathologica l processes in NDDS, the novel FXTAS datasets will be cross-examined
available datasets of Alzheimer's Disease, Parkinson Disease and amyotrophic lateral
 ementia . This tudy has the potential to not only identify critical mechanisms driving
pathogenesis that would acilitate the discovery of biomarkers and therapeutic targets but also
pathways most central to disease through a cross-examination approach with other NDDs.
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## Key facts

- **NIH application ID:** 10429040
- **Project number:** 1K01NS126736-01
- **Recipient organization:** ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI
- **Principal Investigator:** Reymundo Lozano
- **Activity code:** K01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $270,915
- **Award type:** 1
- **Project period:** 2022-04-15 → 2025-03-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10429040

## Citation

> US National Institutes of Health, RePORTER application 10429040, FXTAS Key Molecular Pathways Converge with Other Neurodegenerative Disorders (1K01NS126736-01). Retrieved via AI Analytics 2026-05-21 from https://api.ai-analytics.org/grant/nih/10429040. Licensed CC0.

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