Ichthyosis is an incredibly rare, severe and a persistent genetic skin disease that frequently starts in childhood or infancy. A large amount of the body surface is characterized by a dry, thickened, scaling skin. In fact, scaling happens usually over the trunk, abdomen, buttocks and legs. In general, ichthyosis can affect people of all ages, races, or gender. Statistics numbers are especially impressive: over and above then 16,000 babies are born every year with one of the twenty different types of ichthyosis. For instance, the exact diagnosis could be challenging due to the underlying genetic cause, outward appearance and mode of inheritance. On one hand, genetic ichthyosis is more common and happens during the first year of life, usually
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In other words, the hydration and dehydration of the skin are affected; thus preventing the normal shedding of the outer layer causing an abnormal thicker stratum corneum. The skin cells don't drop off from the body surface, and then accumulate as thick flakes resembling of fish scales. Usually, the genetic forms of ichthyosis are caused by the gene mutation passed from the parents to the fetus. In most of the cases, the parents are not aware to be the carrier of this condition which happens spontaneously during the formation of the embryo, at the time or just after conception. According to the National Institute of Heath, in general "mutations in more than one gene cause each clinical type of ichthyosis" …show more content…
Furthermore, scientists are attempting to find new therapies to help manage a specific patient's needs. In fact, a critical element to the ichthyosis research advancement is the patient's participation in order to form a national database. "Scientists are looking for ways to manipulate the responsible genes to stop the disease" (NIH.Gov). Indeed, little by little scientists are gaining more knowledge, identifying variations in the gene responsible for ichthyosis diseases. According to the American Association for the Advancement of Science (AAAS), "Biologists continue to hone their tools for deleting, replacing, or otherwise editing DNA and a strategy called Clustered regularly-interspaced short palindromic repeats (CRISPR) has become one of the most popular ways to do genome engineering" (Sciencemag.Org). In the meantime, there is some hope for ithchyosis' future parents who would like to prevent this genetic mutation to be transferred to their offsprings. A good example of gene-editing is a little girl in London that had the leukemia cancer disease removed from her body. Blindness, HIV, and ichthyosis disease can use CRISPR as
In other words, the hydration and dehydration of the skin are affected; thus preventing the normal shedding of the outer layer causing an abnormal thicker stratum corneum. The skin cells don't drop off from the body surface, and then accumulate as thick flakes resembling of fish scales. Usually, the genetic forms of ichthyosis are caused by the gene mutation passed from the parents to the fetus. In most of the cases, the parents are not aware to be the carrier of this condition which happens spontaneously during the formation of the embryo, at the time or just after conception. According to the National Institute of Heath, in general "mutations in more than one gene cause each clinical type of ichthyosis" …show more content…
Furthermore, scientists are attempting to find new therapies to help manage a specific patient's needs. In fact, a critical element to the ichthyosis research advancement is the patient's participation in order to form a national database. "Scientists are looking for ways to manipulate the responsible genes to stop the disease" (NIH.Gov). Indeed, little by little scientists are gaining more knowledge, identifying variations in the gene responsible for ichthyosis diseases. According to the American Association for the Advancement of Science (AAAS), "Biologists continue to hone their tools for deleting, replacing, or otherwise editing DNA and a strategy called Clustered regularly-interspaced short palindromic repeats (CRISPR) has become one of the most popular ways to do genome engineering" (Sciencemag.Org). In the meantime, there is some hope for ithchyosis' future parents who would like to prevent this genetic mutation to be transferred to their offsprings. A good example of gene-editing is a little girl in London that had the leukemia cancer disease removed from her body. Blindness, HIV, and ichthyosis disease can use CRISPR as