Glossary of terms
Consult this glossary for definitions of terms you will find throughout our site.
Allogeneic cells are cells that come from a healthy donor. In cell therapy, these working cells are inserted into affected individuals to produce the necessary protein. There is a risk of rejection since these cells don't belong to the patient.
Autologous cells come from the affected individual. In cell therapy, these cells are taken from the patient, corrected to express the proper protein, and then re-inserted. Autologous cells reduce risk of rejection since the body recognizes them as native and are considered a safer source than allogeneic cells.
Basement membrane is a main component of the extracellular matrix that provides structural stability to tissues. All epithelium is attached to a basement membrane. Collagen VII and Laminin 332 are two major protein components of the basement membrane that are deficient or absent in different forms of EB.
Cell therapy involves inserting healthy living cells into an individual to treat disease.
Collagen VII is the type of collagen protein present in the anchoring fibrils and basement membrane of the extracellular matrix. Collagen VII is deficient or absent in individuals with dystrophic EB, causing the skin to tear apart easily from minor trauma.
Dermis is the second, deeper layer of the skin. It is composed of strong connective tissue that cushions the body from stress. Hair follicles, sweat glands, and blood vessels exist within the dermis. Some cells in the dermis are responsible for producing collagen VII, a process affected in individuals with dystrophic EB.
DNA is the genetic material that provides instructions for cells to function. Each person has a unique set of DNA that is present in every one of their cells.
Epidermis is the upper layer of skin. It is an epithelial tissue, so it lies on a basement membrane, which helps connect it to the underlying layer of the skin, the dermis. The epidermis functions as the body's first defense against pathogens and the environment. It also helps regulate water loss.
Epithelium is the cellular covering of internal and external surfaces of the body, including the epidermis and lining of the digestive system, which attaches to a basement membrane for stability. The epithelial tissues of individuals with EB are not well anchored due to protein deficiencies or absence, so they damage easily.
Extracellular Matrix (ECM) is the network of molecules secreted by cells that provides structural and biochemical support. Collagen is a major component of the ECM, giving tissues strength and structural integrity.
Genes are the basic units of inheritance, passed from parent to offspring, which instruct cells how to make proteins. Mutations in genes can change the instructions, altering the final protein product.
Gene therapy involves different strategies to modify gene expression or repair abnormal genes through transfer of nucleic acids, usually using a vector.
Genetic disorders are conditions caused by one or more abnormalities in an individual's DNA. They are inherited from parents or arise from random mutations.
Keratin is a structural protein that prevents damage to epithelial cells. In EB simplex, keratins V and XIV can be affected, causing the epidermis to tear and blister easily.
Kindlin-1 is an epithelial protein important in cell growth and division, attachment of cells to the extracellular matrix, and cell migration. In Kindler Syndrome, the gene coding for kindlin-1 is mutated, so the protein is non-functional.
Laminin 332 is a crucial protein of the basement membrane that attaches it to the epithelium, providing structural stability. Laminin proteins are comprised of three protein subunits. In Junctional EB, any of the three genes that code for these three proteins can be mutated, causing non-functional or deficient Laminin 332.
Mutations are abnormalities in the DNA sequence. The consequences of these changes range in severity from completely harmless to fatal. Some mutations cause substitutions of amino acids in protein formation, which may lead to production of deficient or non-functional proteins. There are several different mutations in different genes which can lead to EB.
Protein replacement therapy increases the amount of the defective or missing protein in an EB individual though localized injections, micro-needle applications, or systemic intravenous therapy.
Topical treatment is a delivery mechanism by which a therapy is applied externally to the affected area.
Vectors are DNA molecules that can be used as vehicles to carry foreign genetic material into a cell. Vectors are often used in gene therapy research.
Autologous cells come from the affected individual. In cell therapy, these cells are taken from the patient, corrected to express the proper protein, and then re-inserted. Autologous cells reduce risk of rejection since the body recognizes them as native and are considered a safer source than allogeneic cells.
Basement membrane is a main component of the extracellular matrix that provides structural stability to tissues. All epithelium is attached to a basement membrane. Collagen VII and Laminin 332 are two major protein components of the basement membrane that are deficient or absent in different forms of EB.
Cell therapy involves inserting healthy living cells into an individual to treat disease.
- Relevant Projects & Trials: Fibrocell Trial, iPS Cell Consortium, Stanford Research, Stanford & Abeona Gene Transfer Trial, University of Colorado Research, Universite Laval Research
Collagen VII is the type of collagen protein present in the anchoring fibrils and basement membrane of the extracellular matrix. Collagen VII is deficient or absent in individuals with dystrophic EB, causing the skin to tear apart easily from minor trauma.
Dermis is the second, deeper layer of the skin. It is composed of strong connective tissue that cushions the body from stress. Hair follicles, sweat glands, and blood vessels exist within the dermis. Some cells in the dermis are responsible for producing collagen VII, a process affected in individuals with dystrophic EB.
DNA is the genetic material that provides instructions for cells to function. Each person has a unique set of DNA that is present in every one of their cells.
Epidermis is the upper layer of skin. It is an epithelial tissue, so it lies on a basement membrane, which helps connect it to the underlying layer of the skin, the dermis. The epidermis functions as the body's first defense against pathogens and the environment. It also helps regulate water loss.
Epithelium is the cellular covering of internal and external surfaces of the body, including the epidermis and lining of the digestive system, which attaches to a basement membrane for stability. The epithelial tissues of individuals with EB are not well anchored due to protein deficiencies or absence, so they damage easily.
Extracellular Matrix (ECM) is the network of molecules secreted by cells that provides structural and biochemical support. Collagen is a major component of the ECM, giving tissues strength and structural integrity.
Genes are the basic units of inheritance, passed from parent to offspring, which instruct cells how to make proteins. Mutations in genes can change the instructions, altering the final protein product.
Gene therapy involves different strategies to modify gene expression or repair abnormal genes through transfer of nucleic acids, usually using a vector.
- Relevant Projects & Trials: University of Minnesota Research, USC Research
Genetic disorders are conditions caused by one or more abnormalities in an individual's DNA. They are inherited from parents or arise from random mutations.
Keratin is a structural protein that prevents damage to epithelial cells. In EB simplex, keratins V and XIV can be affected, causing the epidermis to tear and blister easily.
Kindlin-1 is an epithelial protein important in cell growth and division, attachment of cells to the extracellular matrix, and cell migration. In Kindler Syndrome, the gene coding for kindlin-1 is mutated, so the protein is non-functional.
Laminin 332 is a crucial protein of the basement membrane that attaches it to the epithelium, providing structural stability. Laminin proteins are comprised of three protein subunits. In Junctional EB, any of the three genes that code for these three proteins can be mutated, causing non-functional or deficient Laminin 332.
Mutations are abnormalities in the DNA sequence. The consequences of these changes range in severity from completely harmless to fatal. Some mutations cause substitutions of amino acids in protein formation, which may lead to production of deficient or non-functional proteins. There are several different mutations in different genes which can lead to EB.
Protein replacement therapy increases the amount of the defective or missing protein in an EB individual though localized injections, micro-needle applications, or systemic intravenous therapy.
- Relevant Projects: Stanford Research
Topical treatment is a delivery mechanism by which a therapy is applied externally to the affected area.
- Relevant Projects & Trials: Amryt, Castle Creek, Stanford Itch Trial, Stanford Research, Tufts
Vectors are DNA molecules that can be used as vehicles to carry foreign genetic material into a cell. Vectors are often used in gene therapy research.