Rare disease hardening of the skin
Fibrocell is targeting severe skin diseases that are a result of gene defects. Through its collaboration with Intrexon Corporation (NYSE: XON), Fibrocell’s autologous fibroblast technology is combined with Intrexon’s synthetic biology expertise to create genetically-modified fibroblasts to promote expression of a desired protein(s) to target the underlying cause of the disease.
Recessive Dystrophic Epidermolysis Bullosa (RDEB) is the most severe form of Epidermolysis Bullosa (EB), a devastatingly debilitating genetic disorder that causes severe blistering and areas of missing skin, which is a response to any kind of friction, including normal daily occurrences like rubbing or scratching. Children who inherit the condition are often called “butterfly children” because their skin is as fragile as a butterfly’s wings.
Genetic disorders occur when a copy (or copies) of a defective gene is transmitted from parent to child. RDEB is an autosomal recessive disorder, meaning that a child has inherited copies of the defective gene from both parents. In the case of RDEB, a child of parents who are both carriers of the gene has a 25 percent chance of being born with this devastating condition.
RDEB occurs when a mutation or error occurs within the collagen VII gene, which encodes the protein of the anchoring fibril. Anchoring fibrils hold together the two layers of skin. As a result, there is a lack of adherence and disruption of the skin when any friction or trauma occurs to an area. Where the two layers separate there is blistering and scarring.
The current RDEB patient population in the U.S. is 2, 800 – 5, 6001, 2. There is no cure or treatment or testing for the diseases. RDEB has the highest rate of morbidity and mortality of all the genetic blistering disorders and is often lethal before the age of 30. It affects both genders and every racial and ethnic background equally.
Morphea Profunda/Linear Scleroderma
Scleroderma is the name for a group of rare and chronic autoimmune diseases that cause tightening and hardening of the skin and other connective tissues. Morphea Profunda and Linear Scleroderma, both categorized as localized Scleroderma, are the result of excessive collagen production. They are localized to the skin, unlike other Scleroderma disorders that can harm blood vessels, internal organs, and the digestive tract. Morphea Profunda/Linear Scleroderma affects some 10, 000 people in the U.S.3
You might also like
A Manual of Vegetable Plants, Containing the Experiences of the Author in Starting all Those Kinds of Vegetables Which are Most Difficult for a Novice to Produce from Seeds. With the Best Methods Known for Combating and Repelling Noxious Insects, and Preventing the Diseases to Which Garden Vegetables are Subject.
Book (Factoryville, PA: Tillinghast Brothers)
Dragsbaek: 5 public health threats scarier than Ebola — Longview News-Journal
Children died not from a rare infectious disease but from a vaccine-preventable disease that we didn't protect them from. 2. Pertussis: In 2013, Texas reported 3,985 cases of pertussis, or whooping cough — more than any other state in the U.S.
leadingstar Seeds White Strawberry Delicious Rare palatable Fruit Seed
Single Detail Page Misc (leadingstar)
Miracle Botanicals Bulgarian Rose Otto Essential Oil - 10% Pure High Quality Medicinal Grade Rosa Damascena in Argan - Rare Harvest 5ml
Health and Beauty (Miracle Botanicals)
Baby Necklace From Genuine Baltic Amber - Rare Butterscotch Color- Safety Knotted
Health and Beauty (Vintage Amber)
unihandbag HOT SALE Seeds White Strawberry Delicious Rare palatable Fruit Seed Fresh Plant Home
Is the current EU definition of a rare disease satisfactory?
IPPOSI supports the current EU definition of Rare Disease being extended to the whole of Europe.