- AAV10 VectorAAV stands for Adeno-Associated Virus and holds promise for the treatment and/or cure of many genetic disorders that have a neurodegenerative component. As the name implies, there are many types of AAV viruses and the AAV10 vector has shown promise in crossing the blood-brain barrier- a key(...)
- Autosomal Recessive InheritanceA pattern of inheritance whereby both parents must be a carrier for the disease in order to have a child with the disorder. Even when both parents are carriers for the disorder, there is a 1 in 4 chance the child will inherit the disorder, a 1: 2 chance the child will also be a carrier for the(...)
- Bone Marrow TransplantA medical procedure whereby diseased bone marrow is replaced with healthy bone marrow. Often times, the patients’ bone marrow will be destroyed by high doses of certain chemotherapies and/or radiation therapy.
- Central Nervous System
- Clinical TrialA clinical trial is research designed to understand the safety and efficacy of a drug, biologic or device. There are 4 phases to most clinical trials from Phase 1 that seeks to answer safety concerns in a healthy population of volunteers to Phase 2 trials aimed at understanding the safety of(...)
- Cord Blood Transplant
- DemyelinationA process whereby the body breaks down the protective coating surrounding nerves.
- GalactoceramidaseAnother name for galactocerebrosidase.
- Gene TherapyA type of therapy that offers hope and promise for a cure for many genetic disorders. A working copy of the gene replaces the non-working copy of the gene. Gene therapy is at the forefront of many treatments for genetic disorders like Krabbe disease.
- Genetic DiseaseA disease or disorder caused by a pathogenic variant in a gene, most often present from birth. There are ~8000 genetic diseases identified to date. Other types of diseases can be caused by chromosomal changes and environmental influences.
- Genetic MutationsSee Mutations
- Glial Cells
- Globoid Cell LeukodystrophyAnother name for Krabbe disease, a rare and usually fatal disorder of the nervous system.
- Globoid CellsThe abnormal cells found in the brain of patients with Krabbe disease have a characteristic pathology known as globoids cells, which are large cells usually with more than one nucleus.
- HLA MatchThe success of a bone marrow and cord blood transplants relies on human leukocyte antigen (HLA) marker matching between donors and recipients. HLA are proteins, types of markers, found throughout the body that signal the immune system to identify foreign cells from non-foreign cells. A close(...)
- HSCTHematopoietic stem cell transplantation (HSCT), a type of transplantation using multipotent hematopoietic stem cells typically derived from bone marrow, peripheral blood, or that from umbilical cord blood. When your own stem cells are used, it’s called autologous, allogeneic when stem cells(...)
- HypotoniaSynonymous with muscle weakness.
- LeukocyteA type of white blood cell of the immune system that helps the body fight infection.
- LipidsIn Krabbe disease a lipid describes a type of fatty storage material that accumulates in cells.
- Lysosomal Storage DiseaseLysosomal storage disorders comprise a group of ~50 metabolic disorders that result from a missing, deficient or lack of a specific enzyme.
- Metabolic Disease (Disorder)A group of disorders responsible for abnormal chemical reactions that alter the normal metabolic process. Metabolic diseases are single-gene disorders (Mendelian) inherited in an autosomal recessive pattern.
- Muscle AtrophyDescriptive term used to describe when a muscle isn’t working/functioning properly and loses its mass. Often describes as muscle wasting.
- MyelinMyelin is an essential material your body uses to surround and protect nerve fibers.
- Nervous System
- Neurodegenerative DiseaseThis group of diseases is debilitating, progressive and incurable resulting in degeneration and/or nerve cell death.
- NeuronA nerve cell specializing in transmitting nerve impulses.
- Palliative CareSpecialized and supportive care for individuals with a serious illness with the goal of offering an improved quality of life, not only for the patient but the family as well.
- Pathogenic VariantA variant is anychange in the DNA sequence away from what is considered normal or typical. A change that does not have medical consequences is described as benign, while disease-causing variants are called, pathogenic variants.
- Peripheral Nervous System (PNS)Part of the nervous system that resides outside the brain and spinal cord.
- Schwann Cells
- SpasticityA term that describes muscles that are continually contracted and often described by patients as stiff and tight muscles. This stiffness and tightness can interfere with many activities of daily living like walking and even talking. Spasticity is typically caused by damage to certain areas of(...)
- SphingolipidosisA class of disorders of sphingolipd metabolism, like Krabbe disease, which have an impact on neural tissues in the brain.
- Stem Cell TransplantTypically this refers to a bone marrow transplant with the goal of replacing non-working cells with healthy working cells. Bone marrow is a rich source of stem cells that have the unique ability to divide over and over to provide new cells and as they divide, they have the ability to change(...)
- UCBTAn umbilical cord blood transplant utilizes blood from the umbilical cord for transplantation purposes. Like bone marrow and peripheral blood, the umbilical cord is also a rich source of stem cells used in transplantation.
- Virus VectorWhen we think of a virus, we think of getting sick; however, it might surprise you to learn that viruses have specialized mechanisms that help scientists deliver genetic material into cells. There are many types of viral vectors used to advance gene therapy and many more are being discovered.