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.

RDEB

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
EJ has Epidermolysis Bullosa (EB) — The Worst Disease
EJ has Epidermolysis Bullosa (EB) — The Worst Disease ...
North Carolina boy fighting rare disease
North Carolina boy fighting rare disease
The plight of cancer-stricken Ashley
The plight of cancer-stricken Ashley
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 leadingstar Seeds White Strawberry Delicious Rare palatable Fruit Seed
Single Detail Page Misc (leadingstar)
  • Scientific name: Fragaria ananassa
  • Cultivation follows one of two general models, annual plasticultureor a perennial system of matted rows or mounds
  • A small amount of strawberries are also produced in greenhouses during the off season.
  • The strawberry is, in technical terms, an aggregate accessory fruit, meaning that the fleshy part is derived not from the plant s ovaries but from the receptacle...
  • Fragaria ananassa, commonly known as the strawberry or garden strawberry, is a hybrid species that is cultivated worldwide for its fruit, the common strawberry.
Miracle Botanicals 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)
  • Direct From Grower/Distiller in Kazanlak Bulgaria (Valley of Roses) - 100% Pure, Unadultered and Undiluted Rosa Damascena Mill. Oil Preblended at 10% in Golden Argan...
  • Ingredients: Rose Otto Essential Oil - Steam Distilled from Bulgarian Rose Blossoms 10% and Organic Cold Pressed Argan from Kernels of the Argan Tree 90%
  • Blended and Bottled in Hawaii - Reiki Charged by Hope Johnson
  • Country of Origin: Kazanlak Bulgaria (Valley of Roses); Argan: Morocco
  • This Bulgarian Rose Otto is diluted to 10% for easy, safe, and effective usage. The diluted oil may be applied neat to any part of the body and face to acquire its...
  • 5ml in European Amber Glass Dropper Bottle
  • Used since the early 1600s for its Scent and Medicinal Benefits
  • No fillers, additives, or synthetics
Vintage Amber Baby Necklace From Genuine Baltic Amber - Rare Butterscotch Color- Safety Knotted
Health and Beauty (Vintage Amber)
  • Beans shape Butterscotch Hand made genuine Baltic Amber teething necklace for babies
  • 100% Genuine Amber
  • Safety Knotted
  • Natural Amber Beads
  • Length is about 12.5 inches
unihandbag unihandbag HOT SALE Seeds White Strawberry Delicious Rare palatable Fruit Seed Fresh Plant Home
Kitchen (unihandbag)
  • Scientific name: Fragaria ananassa
  • Cultivation follows one of two general models, annual plasticultureor a perennial system of matted rows or mounds
  • A small amount of strawberries are also produced in greenhouses during the off season.
  • The strawberry is, in technical terms, an aggregate accessory fruit, meaning that the fleshy part is derived not from the plant s ovaries but from the receptacle...
  • Fragaria ananassa, commonly known as the strawberry or garden strawberry, is a hybrid species that is cultivated worldwide for its fruit, the common strawberry.

Popular Q&A

avatar
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.

Related Posts