Our Services

Our Service

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Diagnosis and Medical Management

We offer comprehensive evaluations and specialized clinical assessments, including genetic, biochemical, and functional testing, to confirm the diagnosis. Once the diagnosis is established, our team of medical professionals develops personalized treatment plans tailored to each patient’s specific needs. We provide access to enzyme replacement therapy (ERT), other emerging treatment options, and comprehensive monitoring and follow-up care.

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Genetic Counseling

Understanding the genetic basis of Fabry disease is crucial for patients and their families. Our experienced genetic counselors collect Fabry-focused family history for each patient and articulate in an easily understandable way crucial information on the Fabry disease’s inheritance patterns, risks, and implications. They provide guidance and support to individuals and families in making informed decisions regarding family planning and genetic testing.

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Research and Clinical Trials

As a leading Fabry disease center, we actively participate in cutting-edge research and clinical trials to advance our understanding of the disease and explore new treatment options. By collaborating with renowned researchers and pharmaceutical companies, we contribute to the development of innovative therapies and breakthroughs in Fabry disease management.

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Collaboration and Expertise

Our Fabry disease center fosters collaboration among healthcare professionals, researchers, and patients to optimize patient care and outcomes. Our team comprises experts from various disciplines, including medical genetics, cardiology, nephrology, neurology, and psychology. By working together, we leverage our collective expertise to deliver comprehensive care and stay at the forefront of Fabry disease advancements.

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Columbia Medicine CME

Columbia University, Department of Medicine is one of the world’s most important centers of research, education and patient care. This allows us to offer a distinctive and distinguished learning environment for professionals seeking additional knowledge. Our educational platform recognizes the importance of our clinician educators and seeks to link its research and teaching to the vast resources both nationally and internationally.