Raising awareness for SPLIS

SPLIS, is a rare genetic disease in which a type of lipids called sphingolipids build up in the body, often causing damage to the kidney, brain and nerves, adrenal gland and other organs.

Collaboration with University of California, San Francisco

We lead the project in coordination with the UCSF. We anonymize the data from potential cases in Turkey and connect them to the UCSF for a detailed treatment plan.

Turkey's specific condition

Since Turkey ranks at the top of the world in the ratio of the number of consanguineous marriages to the general population, the probability of the occurrence of SPLIS increases. It is estimated that 10% of SPLIS cases worldwide are only in Turkey.

Current global situation

The number of diagnosed cases in the world is only 85. In Turkey, this number is 6 and 4 children lost their lives. The mortality rate in the world is approaching to 70%.

Clinical Characteristics

SPLIS is characterized by varying combinations of steroid-resistant nephrotic syndrome, primary adrenal insufficiency, testicular insufficiency, hypothyroidism, ichthyosis, lymphopenia - immunodeficiency, and neurologic abnormalities that can include developmental delay, regression / progressive neurologic involvement, cranial nerve deficits, and peripheral motor and sensory neuropathy.

Detailed information and collaboration

Foundation ON collaborates with the University of California San Francisco in this project. Detailed information can be accessed through visiting splis.info.

Conducting awareness and training activities in Turkey

We carry out awareness raising and training activities throughout Turkey in order to accelerate the detection of SPLIS disease.

Joint action with University of California, San Francisco

We organize regular meetings with our coordination center to ensure that the process progresses scientifically.

Establishing the connection of diagnosed cases made throughout Turkey with UCSF

By anonymizing potential patient information, we prepare the connection with the University of California.

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