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- 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
- 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 cha
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- Central Nervous SystemThe central nervous system (CNS) is made up of the brain and the spinal cord.
- 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 concern
- Cord Blood TransplantSee Umbilical Cord Blood Transplant (UCBT).
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- GalactoceramidaseAnother name for galactocerebrosidase.
- GalactocerebrosidaseA specific enzyme that receives its instructions from the GALC gene. When the GALC gene isn’t working properly, the enzyme, galactocerebrosidase, is unable to break down certain fats called galactol More
- GalactosylceramideA galactolipid that is an important component of the normal turnover of myelin in nerve fibers. When there is an enzyme deficiency, excess galactosylceramide and psychosine (both galactolipids) store
- GALC geneThe GALC gene is located on chromosome 14. This gene provides instructions for making the enzyme galactocerebrosidase. This enzyme breaks down certain fats called galactolipids. Galactocerebrosidase More
- 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
- GenesThe body is made of ~20,500 genes, each of which has a specific function within the body. Our genes are what makes each one of us unique- from our green eyes to our curly hair.
- 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 chromoso
- Genetic MutationsSee Mutations
- Glial CellsA specific type of cell surrounding neurons (a nerve cell) and the most abundant cell type found in the central nervous system (CNS). Glial cells provide the insulation and support for neurons.There a
- 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.
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- 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
- 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 b
- HypertoniaOften described as rigidity and/or spasticity as a result of damage to motor neurons of the central nervous system.
- HypotoniaSynonymous with muscle weakness.
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- LeukocyteA type of white blood cell of the immune system that helps the body fight infection.
- LeukodystrophyThe leukodystrophies comprise a group of progressive, genetic disorders mainly affecting the central nervous system (CNS). Most leukodystophies result from a disruption of the growth of the myelin sh
- LipidosisA lipid storage disorder resulting from harmful amounts of lipids, like the galactolipids, galactoceramide and psychosine, accumulating in cells throughout the body.
- 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.
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- 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 p
- Muscle AtrophyDescriptive term used to describe when a muscle isn’t working/functioning properly and loses its mass. Often describes as muscle wasting.
- MutationsThis is an older word used to describe a change in a specific gene leading to disease. As not all mutations are bad, the word mutation has been replaced with the term “pathogenic variant” that d
- MyelinMyelin is an essential material your body uses to surround and protect nerve fibers.
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- Nervous SystemThe nervous system of the body is made up of the Central Nervous System (CNS) and the Peripheral Nervous System (PNS).
- 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.
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- 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
- Peripheral Nervous System (PNS)Part of the nervous system that resides outside the brain and spinal cord.
- PsychosineDue to the enzyme deficiency in Krabbe disease, psychosine accumulates in the nervous system of affected individuals. Psychosine, a galactolipid, is a cytotoxic type of lipid, that has destructive pr
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- Schwann CellsSchwann cells are involved in many important aspects of the peripheral nervous system (PNS) that produce the myelin sheath (protective coating) surrounding nerves. Schwann cells are akin to the peri
- 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 livin
- 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
- AAV10 Vector
- Autosomal Recessive Inheritance
- Bone Marrow Transplant
- Central Nervous System
- Clinical Trial
- Cord Blood Transplant
- Demyelination
- DNA
- Enzyme
- Galactoceramidase
- Galactocerebrosidase
- Galactosylceramide
- GALC gene
- Gene Therapy
- Genes
- Genetic Disease
- Genetic Mutations
- Glial Cells
- Globoid Cell Leukodystrophy
- Globoid Cells
- HLA Match
- HSCT
- Hypertonia
- Hypotonia
- Inherited
- Leukocyte
- Leukodystrophy
- Lipidosis
- Lipids
- Lysosomal Storage Disease
- Metabolic Disease (Disorder)
- Muscle Atrophy
- Mutations
- Myelin
- Nervous System
- Neurodegenerative Disease
- Neuron
- Oligodendrocytes
- Palliative Care
- Pathogenic Variant
- Peripheral Nervous System (PNS)
- Psychosine
- reduced condition
- Schwann Cells
- Spasticity
- Sphingolipidosis
- Stem Cell Transplant
- UCBT
- Virus Vector