Finding faulty genes and developing tests for rare diseases | Action Medical Research

Finding faulty genes and developing tests for rare diseases

Action Medical Research funding has helped to identify the genes for Von Hippel-Lindau syndrome, for an inherited form of cleft lip and palate called Van der Woude syndrome, and for the hereditary skin condition incontinentia pigmenti.

Incontinentia pigmenti typically develops shortly after birth. It can cause severe blistering and abnormalities of the eyes, teeth, hair and nails, and in some cases serious neurological problems.

Identification of the gene has allowed development of genetic tests for accurate diagnosis of the condition, which facilitates genetic counseling and prevents inappropriate treatment for a condition the baby does not have. It also helps inform the search for new treatments in the future.

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