Medical Genetics and Genomics

Fragile X Syndrome and Fragile X-related Disorders Program

Led by renowned Fragile X researcher, Dr. Reymundo Lozano, our Fragile X Syndrome and Fragile X-related Disorders Program at Mount Sinai is dedicated to advancing the care and treatment of individuals with Fragile X-related disorders. Our multidisciplinary team is committed to providing specialized services tailored to the unique needs of patients with Fragile X Syndrome (FXS).

Our Mission

At the heart of our program is the mission to improve the lives of individuals and their families affected by Fragile X-related disorders. These conditions include Fragile X syndrome, Fragile X tremor-ataxia syndrome (FXTAS), and Fragile X primary ovarian insufficiency (FXPOI). We provide a comprehensive suite of services encompassing expert genetic testing, personalized genetic counseling, advanced clinical care, and medication management.

A core element of our program is our active involvement in clinical trials and groundbreaking research. These efforts are aimed at deepening our understanding and fostering the development of innovative treatments for these disorders. Our educational initiatives also support patients, families, and healthcare professionals, ensuring informed and compassionate care throughout our community.

Services Provided

At the Fragile X Spectrum Disorder Program, we offer a comprehensive range of services designed to address the multifaceted needs of our patients and their families:

  • Medical Evaluation: Comprehensive assessments to diagnose and manage Fragile X Spectrum Disorders.
  • Genetic Counseling: Personalized consultations to understand genetic influences and risks.
  • Behavioral and Psychological Consultation: Tailored strategies to support emotional and psychological well-being.
  • Research Opportunities and Clinical Trials: Access to pioneering studies and new treatment avenues.

As a key participant in the Fragile X Clinical and Research Consortium (FXCRC), we collaborate with leading programs nationwide. This network enhances our capacity to manage symptoms effectively and offers our patients opportunities to engage in groundbreaking research studies. While there is currently no cure for Fragile X Spectrum Disorders, we are dedicated to significantly improving the quality of life for those affected.

Research Statement

Our commitment to research transcends traditional clinical care. Anchored in interdisciplinary collaboration, our research is dedicated to unraveling the complexities of Fragile X Spectrum Disorders. Utilizing advanced techniques like bulk and single-cell multi-omics, we seek to uncover crucial molecular pathways and regulators that drive neurodegenerative disorders.

Our investigative efforts include analyzing genomic signatures from postmortem brain tissue to pose biologically significant and statistically robust questions. These questions drive innovation and scientific discovery in our field. Through these collaborative and dedicated efforts, we aim to spearhead transformative breakthroughs, enhancing the lives of those impacted by these conditions.

Our Vision and How You Can Help

At the Fragile X Spectrum Disorder Program, we provide more than exceptional clinical care—we are at the forefront of scientific research and innovation. Our current research initiatives include using postmortem brain tissue to investigate the expression levels of FMRP and its downstream targets across different brain regions and cell types. This vital work aims to identify potential drug targets for therapeutic intervention.

Additionally, we are pioneering the creation of FX-brain organoids to test the efficacy and safety of potential drug candidates. This innovative approach accelerates the development of novel treatments for FX-related disorders by providing crucial insights into the pharmacodynamics and pharmacokinetics of these drugs.

Donations are a critical source of funding for these groundbreaking efforts. Your support enables us to continue our research and pursue transformative breakthroughs that can significantly improve the lives of those affected by Fragile X Spectrum Disorders. Join us on this transformative journey—your contribution can make a meaningful difference.

Donate Now to support the Fragile X Spectrum Disorder Program at Mount Sinai Hospital and help us foster hope for a brighter future.