Welcome Health Care Professionals

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Welcome and thank you for your interest in our rare disease.

We’ve compiled disease-specific information pertinent to understanding cystinosis. You’ll find everything from cystinosis basics such as, Clinical Characteristics, Diagnosis, Treatment and Supportive Therapies here.

Delve into cystinosis abstracts and articles from around the world.

Review the CRN grant guidelines where clinical and basic interventional research leading to improved treatments for cystinosis is given top priority.

WBC cystine level testing

Information for your patients regarding gratis testing is now available. Patients should consult with a treating physician to request a WBC cysteine level collection kit. Questions can be directed to: connect@HorizonPharma.com.

UCSD Cystine Determination Lab
CTF – Bldg B Room 213
212 Dickinson Street
San Diego, CA 92103
Phone: 619-543-5260
Fax: 619-543-3565
Technical Contact: Bernadette Libatique, CLS, Laboratory Technician
Email: blibatique@ucsd.edu
Clinical Contact / Principal Investigator: Bruce A. Barshop, M.D., Ph.D., Professor of Pediatrics
Email: bbarshop@ucsd.edu
Billing Contact: Bonnie Holmes, Laboratory Manager
Email: bholmes@ucsd.edu