Towards quicker, more accessible and less expensive diagnosis and monitoring of a rare childhood genetic disease

Ignacio Alfonso


    Ignacio Alfonso


    Instituto de Química Avanzada de Cataluña (IQAC-CSIC), Spain


    Cystinosis is a multisystem genetic disorder that affects 1 in 100,000-200,000 newborns and occurs when cystine, a component of proteins, accumulates in the body's cells in the form of cystine crystals. This causes damage to numerous organs in the body, particularly the kidneys. Cystine accumulation also affects other parts, such as the cornea, liver and brain, leading to serious health problems and even death. In fact, if patients do not receive proper treatment, they often do not live to adulthood.

    That is why early diagnosis is crucial, allowing treatment to begin in the first months of life. Treatment consists of a drug which, when administered with the correct dose, reduces the amount of this molecule that accumulates in the cells. To establish the dose, the child must be hospitalised at first and then, throughout life, the patient must visit the hospital every three to four months for a blood test to measure the intracellular concentration of cystine so that the doctor can adjust the dose.

    The analytical methods for quantifying cystine levels are based on a protocol that requires elaborate pre-treatment of the blood sample and the use of sophisticated equipment by highly specialised personnel. To tackle this problem, the researchers have developed a quicker, inexpensive, easy-to-perform test that accurately measures intracellular levels of the molecule and could be used by small hospitals or clinical analysis laboratories, as well as in geographically isolated areas and developing countries.

    In cooperation with Vall d’Hebron Hospital, they have created a new diagnostic and monitoring tool for cystinosis that would enable preventive screening and more effective monitoring of the disease and would be much less disruptive to the lives of patients and their families.