X-ray crystallographic analysis of keratins 1 and 10 - Chris Bunick, MD - October 2016

Structural mechanisms of ichthyosis-causing mutations by x-ray crystallographic analysis of keratins 1 and 10

Please join us in congratulating FIRST's 2017 Research Grant recipient
Dr. Christopher Bunick of Yale University, for his work in determining the structural mechanisms of ichthyosis-causing mutations by x-ray crystallographic analysis of keratins 1 and 10. The FIRST research grant will provide funding in the amount of $50,000 for a period of one year, beginning October 1, 2016.

Newborn implications in the ichthyoses. - Brittany Craiglow, MD - April 2Brittany Craiglow, MD015

Newborn and early childhood complications and comorbidities that accompany the ichthyoses.

Please join us in congratulating FIRST's 2015 Research Grant recipient, Dr. Brittany Craiglow of Yale University. Dr. Craiglow, a tenacious supporter of the FIRST community, was awarded a $50,000 research grant for her collaborative study of newborn and early childhood complications and comorbidities that accompany the ichthyoses. Dr. Craiglow notes, "At present, there is no standard of care for the management of babies and children with these disorders and therapeutic options are limited."

Ryan O'Shaughnessy, PhD

ARCI - Ryan O'Shaughnessy, PhD - March 2014

Finding new therapeutic avenues for autosomal recessive congenital ichthyosis by targeting common pathways of hyperkeratosis.

Dr. Ryan O'Shaughnessy received $50,000 from the FIRST Research Grant Program to continue his work in targeting the scaling pathways in ichthyosis. The research specifically focuses on understanding the mechanisms that cause scaling, and subsequently increasing the options for treatment.

Hyperkeratosis, or scaling, is a very common symptom in skin disease, with around 150 genetic ichthyosis and ichthyosis-related skin diseases leading to this thickening of the outermost layer of the skin.

Epidermolytic Ichthyosis - Amy Paller, MD - September 2012 (updated October 2014)Amy Paller, MD

Topical delivery of keratin 10 mutation-specific siRNA-gold nanoparticles for epidermolytic ichthyosis

The blistering and thickening of skin seen in EI usually results from a change in a single letter of the DNA code (a mutation) in one copy of the gene that provides the codes for manufacture of a keratin protein in the upper layers of skin. Small interfering RNAs (siRNAs) are small pieces of genetic material that can identify DNA pieces and bind to them, preventing the gene from being translated into protein. siRNAs are able to distinguish the mutated DNA from the normal DNA, and thus are able to prevent only the abnormal keratin protein from being formed.

Epidermolytic Ichthyosis - Anders Vahlquist, MD, PhD, Hans Torma, PhD - 2010 (updated October 2012)Anders Vahlquist, MD, PhDHans Torma, PhD

Studies on novel therapeutic options for epidermolytic ichthyosis affecting the skin barrier.

Epidermolytic ichthyosis (EI, or epidermolytic hyperkeratosis) is a rare inherited disease characterized by blistering in the suprabasal layers of epidermis. The affected patients suffer life-long problems from a stiff, painful, and malodorous skin that is easily infected. No drugs are known to significantly or consistently improve the widespread blistering and scaling in EI.

Epidermolytic Ichthyosis - Dennis R. Roop, PhD - 2009 (updated September 2012)Dennis R. Roop, PhD

Generating immortalized cell lines and iPS cells from EI patients

There is no cure for epidermolytic ichthyosis (EI) (formerly called epidermolytic hyperkeratosis or EHK). Therefore, novel gene therapy approaches become extremely attractive for this inheritable epidermal disease caused by single gene mutations in either keratin 1 or 10. In order to permanently correct epidermal diseases, it is necessary to design a therapeutic approach that is able to correct epidermal stem cells. Preliminary studies with a pre-clinical mouse model for EI indicate the feasibility of ex vivo correction of mouse EI cells followed by reconstitution of the skin in a graft model. Before this approach can be tested in humans, it is desirable to first test this ex vivo gene therapy with human EI cells. For such purposes, large numbers of human EI cells are required.

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