Date: 06/02/2017

The National Registry for Ichthyosis and Related Skin Types, supported by FIRST, allows Investigators working in the field of ichthyosis access to the patient data they need to achieve medical breakthroughs. Without patient registries, the process of scientific discovery in rare disorders can be slowed or even halted. Studies of these conditions may take years to finish, but registries provide power in numbers.   This power is especially important for studies of genetics and treatments for ichthyosis.

In a recent study, researchers from Dr. Keith Choate’s laboratory at Yale University, took a unique approach to examining genetic data provided by patients enrolled in the Ichthyosis Registry. The outcome was the identification of the genetic cause for a rare subtype of Progressive Symmetric Erythrokeratoderma (PSEK) and discovery that a commonly used acne medication, isotretinoin (Accutane), could almost entirely eliminate the skin disease. The study results also highlight the central role of ceramides in skin health, and their value as common ingredients in many moisturizers.

Lead author Dr. Lynn Boyden states: “It was the power of the Registry which really enabled us to make this discovery. Without identifying multiple people with the same skin condition and mutation in the same gene, we really can’t be sure that mutations in a given gene cause disease.”  Individuals with ichthyosis are encouraged to enroll in the Registry to enable continued progress in ichthyosis research.

Read Article Summary, at Yale University News
Read Full Paper - “Mutations in KDSR cause recessive progressive symmetric erythrokeratoderma”, in the American Journal of Human Genetics.

Enroll in the National Registry for Ichthyosis.

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