Internal Reference: 2023-023

Market Need 

SETBP1 mutations in its degron region lead to an increase in protein stability, classifying the disease as gain-of-function, and this results in an accumulation of SETBP1 in the cell. One disease caused by SETBP1 mutations is Schinzel-Giedion Syndrome (SGS) which is a severe neurodevelopmental and multisystemic disease.

Symptoms of SGS are severe developmental and growth delay, severe seizures, bone abnormalities, and other congenital malformations. Children suffering from SGS die early in life and there is no known cure. SETBP1 mutations can also cause chronic myeloid leukemia and SETBP1 dysregulation is implicated in the pathogenesis of other cancer forms.

Technology Overview

Being able to modulate SETBP1 expression with antisense oligonucleotides to inhibit SETBP1 expression for the prevention or treatment of SETBP1-associated diseases will help patients suffering from SGS and blood cancers caused by mutations in SETBP1.

We have identified two antisense nucleic acid sequences that reduce SETBP1 protein in human cells providing a precision medicine treatment targeting a specific set of gene mutations. The reduction in SETBP1 protein will reduce the severity of symptoms and extend the lifespan of people with SGS.

Commercial Advantages

• No current treatment available – only pain and symptom management or standard chemotherapy
• Increase quality of life
• Prevent further symptom deterioration

Additional Information

• Researcher: Carl Ernst
• Patents: United States: US 19/814,510 (Filed)
• Publications of work:
• Funding: Currently funded through D2R TIR Cycle 1
• Keywords: Orphan Disease, Therapeutic