A

  • Adult stem cells are cells that are tissue-specific. Although found in adults, children, and fetuses, adult stem cells are so called because they are specialized cells thought to be found in most of the body's tissues. These remain specific to their tissue of origin, but have the power to become any cell. For example, adult stem cells in bone marrow can become red or white blood cells but can not become brain cells. Adult stem cells have the ability to divide or self-renew, which makes them key to study since it has the potential to create an almost unlimited number of necessary cells. Adult stem cells are derived from adult tissue samples, and can also be derived from cord blood extracted after the birth of an infant.

  • Amino acids are organic compounds found in every cell that build proteins necessary for human life. Combinations of amino acids join to form short chains of peptides or longer chains of proteins. The process by which amino acids become protein is called translation and occurs when amino acids are added to a protein chain by ribosomes. The order of these amino acid additions to the protein chain is read through through the RNA copy of a person's genes.

    They can be broken down into three types: non-essential amino acids are produced by the body, essential amino acids are obtained through food, and conditional amino acids that are only needed in times of illness and stress.
  • Antibodies are proteins used by the immune system when harmful substances such as bacteria or viruses (called antigens) enter the body, to either tag a foreign body for attack by other parts of the immune system or by neutralizing the target directly. Production of antibodies is the main goal of the immune system.

    Antibodies are created by a type of white blood cell called plasma and take two forms; a soluble form that is secreted from the cell and membrane form that attaches to the surface of the cell. Those antibodies that attach to the surface of cells create memory cells, which remain in the body and remember the specific antigen, so the body knows how to quickly respond. Although antibodies generally have the same structure, the tip that binds to antigens differs greatly, allowing the immune system to identify a large variety of antigens. Antibodies identify and react to antigens in a few ways: one, they bind to the pathogen to prevent it from entering or damaging cells, two, they coat the pathogen in order to stimulate removal, and three, they trigger other autoimmune responses to help destroy the pathogen.

    Before the birth of a child, antibodies are provided by the mother. When the infant is born, antibodies that naturally occur in the blood stream become specialized as the body is exposed to antigens, however, antibodies do exist naturally in the body regardless of exposure to outside substances.

    Issues can arise when the immune system produces antibodies that attack healthy tissue.
  • Apoptosis is the natural process of programmed cell death (PCD) that occurs in multi-celled organisms. Billions of cells in a healthy adult die each day, either through simple changes or death. These cells are disposed from the body by being engulfed by other cells in order to control damage.

    Apoptosis can be beneficial, such as in the creation of individual fingers and toes in a human embryo, or harmful, as with neurodegenerative conditions or tumor formations where apoptosis is excessive.

  • Astrocytes are cells located in the human brain and spinal cord. They are the most abundant cells in the human brain. Shaped like stars, they provide many essential brain functions, such as holding neurons in place, getting nutrients to neurons and nervous tissue, disposal of dead neurons, maintaining the blood-brain barrier, and repairing and scarring the brain and spinal cord following traumatic injury. They are responsible for astrocytomas, or brain tumors that develop from astrocytes. This condition can occur in the brain and spinal cord, at any age, and primarily in males.

    Studying astrocytes plays a huge role in neuroscience since astrocytes communicate with neurons. It is suggested that astrocytes regulate neural stem cells and may play a role in depression.

  • Also referred to as pervasive developmental disorder, atypical autism is a term used to describe children and adults who exist on the autism spectrum but can not be described using existing autism categories.

  • An autoimmune neurological disease occurs when the immune system launches a response again the body. This can happen throughout the nervous system and to a very specific cell population.  Multiple sclerosis is an example of an autoimmune neurological condition. 

  • Autosomal is a word for the chromosomes of the body that are not the sex-determining chromosomes. Humans have 46 chromosomes:  22 pairs of autosomes and one pair of sex chromosomes. 

    To be autosomal recessive means that two copies of a gene must be present for a trait to be passed down in families. If one gene of the pair is defective, the person is considered a carrier. If both parents are carriers of an autosomal recessive gene, there is a 1 in 4 chance of developing the disease and a 50% chance of being a carrier. 

    To be autosomal dominant means that only one gene is necessary in order to inherit a disease or condition. There is a 50% chance of passing the condition to offspring. 

  • Autosomal dominant refers to one of the ways that a gene can be passed to offspring through families. 

    To be autosomal dominant, the gene only needs to come from one parent in order for the gene to be inherited. 

    Autosomal means that the chromosome affected is not a sex chromosome. Dominant means that even if the other parent has normal genes, the abnormal gene will prevail.

    Each child from the parents will have a 50% chance of inheriting the gene, regardless of whether or not any other family members are affected.

  • An axon is a nerve fibre that conducts electrical impulses away from a nerve's body. They are the primary transmission unit of the nervous system. Encased in myelin, these electric impulses send information to other neurons, muscles, or glands at spaces called synapses. Some neurological conditions are due to inherited or acquired axon dysfunction.

B

  • To babble is to vocalize sounds that do not make sense to the hearer.

    Many infants begin to babble around three months. The lack of babbling or the extension of babbling in an older child can potentially mean the presence of a neurological condition. 

  • Bioinformatics is a field that uses computer technology to manage biological information. The goal is to create an understanding of human diseases and to identify new spaces for drug development. Common bioinformatic activities are mapping and analyzing DNA and protein, comparing different DNA and protein sequences, and creating 3-D models. 

    In neuroscience, bioinformatics plays a role in understanding genomic and protein mutations and their effects on the body. 

    Existing since the 1970s, the field of bioinformatics has greatly increased due to the Human Genome Project and the public accessibility of genomic data. Databases that store biological information that researchers can access or submit new data to regarding specific conditions are the latest moves in this field.

  • A biologic is a biological product intended to treat diseases and medical conditions that are created in or derived from a living system, which can include a microorganism, or a plant or animal cell. Biologics are made up on sugars, proteins, nucleic acids, or combinations of these.

    Examples of biologics are vaccines and gene therapies.

  • Biomolecules are all molecules produced by an organism in its biological process. 

    This includes proteins, sugars, lipids and their transformations, including their role in metabolic reactions. 

  • In humans, the blastocyst is a grouping of 70-100 cells that will eventually become an embryo and placenta. It consists of an inner cell mass, an outer layer of cells, and a fluid-filled cavity. The inner cell mass becomes embryonic stem cells while the outer cell layer later forms the placenta. The embryonic stem cells of the blastocyst are pluripotent, meaning they have the capability to become any possible cell of the body.

C

  • Cell maturation is the process of cells maturing and specializing, losing their ability to split and become new cells. 

    Pluripotent stem cells have the ability to become any cell in the human body. These cells form other cells, and through development, become specialized to a specific task. For example, once a pluripotent stem cell specializes to become a blood cell, this blood cell has matured and will only be able to be a blood cell from that point forward.

  • Most closely identified with the brain and the spinal cord, the central nervous system is the system in the body that collects all information from and coordinates the activity of the body.

    The brain responsible for coordinating body function, integrating sensory information, and regulate the homeostasis of the body. It is divided into two hemispheres that communicate with one another through a bundle of nerve fibers called the corpus callosum, and a smaller bundle called the anterior commissure. The brain consists of billions of nerve cells and trillions of glia that are housed in different areas of the brain, separately known as the cerebral cortex, cerebellum, brain stem, hypothalamus, thalamus, hippocampus, midbrain, and basal ganglia. The tissues that make up the brain is known as gray matter of white matter. Each area of the brain is responsible for a specific set of functions. 

    The spinal cord is responsible for transmitting signals from the brain to the rest of the body. 

    In humans, the brain is protected by the skull and the spinal cord is protected by the vertebrae. They are both encased in cerebrospinal fluid that works to create a special environment for nervous tissue and a buffer against physical damage.

  • Granule cells are neurons whose defining feature is their small size.

    Cerebellar granular cells make up the majority of the neurons in the human brain. The purpose of cerebellar granule cells is to send messages into the cerebral cortex where they reach Purkinje cells.

  • Chromosomes are structures within cells that carry DNA, RNA, and proteins. Each chromosome is DNA tightly wound around proteins that support its structure. Chromosomes are not visible in the cell unless the cell is dividing and much of the knowledge concerning chromosomes is learned by observing cells during division. 

    In humans, chromosomes are classified in two ways: autosomes and sex chromosomes. Autosomes carry all genetic, hereditary information, except for certain genetic traits related to a person's sex, which are carried in the sex chromosomes. Each human cell has 23 pairs of chromosomes (twenty two autosomes and one sex chromosome).

  • Chronological age is measured by the time (days, months, or years) something has existed.

    For example, a chronological age would be twelve (12) years.

  • A citizen scientist is one that contributes to scientific advancement through means such as asking questions, donating to scientific research, advocating for, or participating directly in science while not being a professional scientist or researcher. 

    The Green Paper for Citizen Science defines citizen science as “general public engagement in scientific research activities when citizens actively contribute to science either with their intellectual effort or surrounding knowledge or with their tools and resources. Participants provide experimental data and facilities for researchers, raise new questions, and co-create a new scientific culture.”

    Citizen science has a broad definition that allows for many interpretations, but this broad definition and scope gives a multitude of individuals the capacity to participate in and shape the professional scientific landscape. 

  • Clinical research is a branch of science that determines the safety and effectiveness of medical practices, procedures, and therapies, ranging from medications to devices to treatment regimens, that will be considered for human use.

    The goal of clinical research is to collect evidence to establish validity as a treatment and ensure safety in human use. The process of clinical research begins at inception and continues until after the product or therapy has been on the market.

  • A group working together to achieve a common goal. A key feature of a consortium is the reliance of all members of working together since the goal exceeds the capability of any one member of the group. 

    The word consortium has roots in the Latin word for partnership.

  • Crowdfunding is a method of funding whereby money is raised through small amounts given from those ranging from the everyday person to professional funders.

    Crowdfunding moves away from traditional methods of funding where a small number of individuals would contribute large amounts of money by flipping this method and encouraging large numbers of individuals to donate smaller amounts of money.

    Crowdfunding typically occurs over the Internet. 

  • Cytoplasm is the substance that fills the inside of a cell and houses most of its internal structures, except for the cell nucleus and mitochondria. It consists of cytosol, the liquid component of cytoplasm, organelles, or structures inside the cell with a specific function, and inclusions, which are nonliving components which are found in the cell, such as lipids. 

    Most cellular activities and processes, such as cell division, occur within the cytoplasm. The movement of calcium ions in and out of cytoplasm is thought to be a signaling activity for metabolic processes.

D

  • To be defective is to present an anomaly which causes something to fall outside of the norm.

  • Degenerative diseases of the nervous system (neurodegeneration) is a term used to encompass any of the diseases or disorders which are due to a loss in the function or structure of neurons of the brain or spinal cord. They affect body activities such as balance, movement, talking, breathing, and heart function, amongst others. Many degenerative diseases of the nervous system have no cure, but treatments can improve symptoms and relieve pain.

    Causes can include medical conditions such as a tumor or stroke, toxins, chemicals, viruses, or the unknown. Examples of degenerative diseases include Alzheimer disease, dementia, Huntington disease, Parkinson disease, and Creutzfeldt-Jakob disease. 

  • Demylination is the loss of the myelin sheath in neurons. This affects the conduction of signals.

    Depending on which nerves are affected, this loss of conduction causes a deficiency of sensations, movements, cognitions, and other functions. 

    Demylination can be caused by genetics, autoimmune reactions, infectious agents, or by unknown means. 

  • Dendrites are branches on a neuron that receive electrical contacts from other neural cells.  The primary function of dendrites is to ensure that signals are passed from neuron to neuron. Dendrite branches host proteins such as sodium, calcium, and potassium that assist in channeling these electrical contacts.

    Dendrites can be affected by disorders that delay information transmission or neurotransmitter production, medications, or from overactive neurons. They can lengthen and quicken information exchange through learning, or shorten from damage, such as alcoholism. 
  • Developmental age is the measure of physical and mental development expressed in terms of age norms.

    Developmental age and chronological age are not always the same. For example, a child may have a chronological age of nine with a developmental age of five. 

  • Developmental biology is the study of the ways organisms grow and develop and seeks to understand the emergence of a complex being from a simple cell. This includes genetics, stem cells, cell growth and death, regeneration, and aging.

    The goal of developmental biology is to understand developmental differences. Human health and disease plays a large role in what is studied, including but not limited to, stem cell biology, aging, cancer, diabetes, arthritis, infectious disease, and neurological disorders.

  • Developmental neurobiology is the study of the development and growth of the processes that create and shape the central nervous system, including how alterations in neurons can lead to neurological disorders. 

  • Developmental regression is the term used to describe when a person loses their ability to perform body functions or skills, often as a sign or symptom of disease.

  • DNA

    DNA (Deoxyribonucleic acid) is a molecule that contains all the genetic data for every living organism. It holds the information necessary for an organism to develop, survive, and reproduce. DNA is able to produce proteins, which are responsible for much of the work in the body. 

    Found within cells, DNA tightly organizes itself into chromosomes. These chromosomes are duplicated during cell division, ensuring that each cell has its own set of chromosomes. DNA is also found in the cell nucleus, which is referred to as nuclear DNA. DNA is passed from parents to offspring during reproduction, where the offspring receives one half of their DNA from each parent. 

    DNA is made up of nucleotides that are linked into chains of phosphate, sugar, and nitrogen. These chains of nucleotides is referred to as a DNA sequence. Each DNA sequence that also has instructions on how to make a protein is referred to as a gene. The entire human genome consists of about 3 billion bases and about 20,000 genes on 23 pairs of chromosomes. 

    DNA is able to replicate, which is crucial because new cells need to have a copy of the DNA present in the old cell. 

  • DNA repair systems are the processes used to identify and fix changes to alterations in DNA. DNA alterations can occur in a few ways.

    DNA repair systems are essential for humans survival. Damage to DNA can occur through genetic means or through environmental damage, such as UV rays.

  • Dysgenesis refers to the abnormal development of organs during the growth and development of embryos.

E

  • Embryonic stem cells are primitive cells derived from a blastocyst, or early stage embryo. These cells have not yet formed into adult stem cells.

    Embryonic stem cells are referred to as being pluripotent, meaning they have the capacity to become any cell in the human body. Because of this, and their ability to replicate indefinitely, embryonic stem cells can be employed as useful tools in regenerative medicine, research, and clinical use. 

    Still want to learn more? Check out this video from our friends at Stem Cell Network.

  • Endogeneous means that the substance has grown from or originated within an organism. 

    DNA sequences would be considered endogeneous because they come from cells in an organism. 

  • To be enzymatic means that an enzyme is the cause. 

    Enzymes are proteins responsible for sustaining life.

  • Enzymes are molecules responsible for sustaining life, consisting of mostly complex proteins. They accelerate metabolic reactions in the body, such as food digestion to to blood clotting to DNA synthesis.

    Nearly all chemical reactions in cells require enzymes in order to function at a rate acceptable to sustain life. Enzymes work by grabbing on to a substrate at a specific area. Substrates are the biological molecule that the enzyme will work on. Enzymes are specific in the reactions they catalyze, and differentiate due to complementary shapes, charges, and other characteristics. The enzyme causes a process called catalysis to happen, which means that the substrate has changed, either by being broken down or combined with another molecule. The enzyme then lets go and is able to work on a different molecule. 

    Enzymes are regulated by inhibitors (molecules that decrease enzyme activity) and activators (molecules that increase enzyme activity). Examples include drugs, poisons, temperature, or pressure. 

  • Embryonic Stem Cell Research Oversite Committees, or ESCRO, are committees that are formed to ensure that ethical, legal, scientific, and policy concerns surrounding hESC research involving human embryonic stem cells (hESCs), hESC lines, and anything that spins off of hESC derivatives are all addressed.

  • Relating to the study of causation.

    For example, a disease treatment may seek to remove or correct the cause of the disease itself.

  • Exome sequencing is a strategy of genome sequencing whereby individual exons are coded rather than the entire genome. Due to its lower cost, exome sequencing is used by scientists to looking for genetic elements of disease.

    Exome sequencing determines every exon in the genome. It is beneficial in searching for underlying causes of rare disorders since individual, rare mutations could be uncovered.

    Exons are the parts of DNA that control coding and are expressed as proteins. 

  • Exons are the parts of genes that code amino acids. To be an exon specifically means that the gene sequence has been expressed as a protein. Exons can be found in messenger RNA.

F

  • Fibroblast growth factors are a family of growth factors that are responsible for embryonic development, as well as wound healing. These proteins play an important role in the development of the central nervous system, and actively maintain the adult brain by stimulating blood vessel growth. 

    Growth factors are proteins or hormones whose purpose is to stimulate cellular growth.

  • Fragile X is a genetic condition that causes a range of developmental and learning disabilities, most commonly in diagnosed in males. 

    Linked to mutations in the FMR1 gene, Fragile X specifically relates to to protein FMRP. 

G

  • Genes are the combination of DNA that denote molecular inheritance. Genes hold the information to build and maintain cells, as well as the genetic traits that will be passed to offspring. The Human Genome Project estimates that humans have somewhere between 20,000 and 25,000 genes. 

    A gene can be thought of as the most basic instructions from the body. Each person has two copies of each gene, with one inherited from each parent.

  • Genetic modification is the use of modern biotechnology to alter the genome structure of an organism. This is done by removing specific genes or introducing new genes that are then fused into the genetic structure.

    Genetically modified organisms, referred to as GMOs, have been important for research. Genetically modified enzymes have been used in the development of medicines such as vaccines, and genetically modified animals have been used for research purposes.

  • Genomics is the study of the interaction of genes with one another and with the environment. This is done by sequencing, assembling, and analyzing the function and structure of the genome, or the complete set of DNA within a single cell of an organism.

  • Germline gene therapy is a potential method of treatment for rare genetic disorders and other common diseases that delivers a specific gene to target cells that would change a person's genomic structure. It has not been available outside of clinical trials. 

    Germline gene therapy modifies existing germ cells (sperm and egg) by introducing genes and integrating these genes into their genomes. This is envisioned to transfer inheritance to offspring, thereby changing those genes forever.

    Hurdles to germline gene therapy are influenced by how the gene is transferred to the cell, oftentimes through viruses which cause other responses. 

  • Glial cells are cells that surround neurons and hold them in place, supply nutrients and oxygen to neurons, insulate neurons from one another, and remove dead neurons in the brain, central and peripheral  nervous systems. 

    Glial cells include astrocytes (star-shaped cells that provide physical and nutritional support for neurons), microglia (digest parts of dead neurons), oligodendroglia (provides myelin to neurons in the central nervous system), satellite cells (physical support to neurons in the peripheral nervous system), and Schwann cells (provide myelin to neurons in the peripheral nervous system).

  • Global developmental delay, also known as global delay, is the pronounced delay in two or more developmental aspects. These developmental aspects consist of gross and fine motor skills, speech and language skills, cognitive skills, personal or social development skills, or daily-life skills.

    This delay is defined as performance two or more standard deviations below the mean on standardized, norm-based testing.

  • Gray matter is the part of the brain that contains the cell bodies of neurons, their nerve fibres, and support cells. Gray matter contains the parts of the brain responsible for muscle control, sensory perception, memory, emotions, and speech. Gray matter continues to grow through development and adolescence.

  • Growth factors are proteins or hormones made by the body that regulates cell division and cell survival. 

    They regulate a variety of cellular processes and act as signaling molecules between cells.

H

  • Hematopoietic stem cells are blood cells that give rise to all other blood cells, including white blood cells, red blood cells, and platelets. They have the ability to self-renew, and are specific to the blood. While hematopoietic stem cells can create any type of blood cell necessary, can not become any cell outside of a blood cell. 

    They are found in the bone marrow of adults, as well as in umbilical cord blood.

  • To be heterogeneous is to be of a different kind. 

    Heterogeneous means that substance is diverse and made up of differing parts.

    For genetics, heterogeneous means that a condition can be attributed to different genes and genetic factors. 

  • HLA (Human Leukocyte Antigen) typing is also known as tissue typing. This test will determine if the tissues in one person's body are compatible with those from another person's body in cases of tissue transplants. 

    HLAs are inherited from the individual's parents. 

  • To be homogeneous means to be of the same kind.

    Heterogeneous means that the substance is similar or exact. 

    For genetics, this means that a condition can be attributed to the same genes. 

  • Hormones are chemicals released by cells, glands, or organs that affect growth and development, metabolism, reproduction, and mood. Hormones are secreted into the directly into the blood but reactions occur only when hormones encounter cells with a specific receptor for that hormone. When the hormone and cell connect, it causes a biological response. Hormone signaling is powerful, and too much or too little of hormones can cause significant changes in the body.
  • Human embyonic stem cells (hES) are cells derived from the inner cell masses of blastocysts. These only exist in the first few days of the earliest stage of development.

    These stem cells have two very specific qualities; their pluripotency, or ability to become any cell in the human body, and their ability to indefinitely replicate. The embryonic stem cell's ability to replicate makes these extremely useful cells for research and regenerative medicine since limitless numbers can be reproduced for science and medicine.

  • Hypothyroidism is a condition where the thyroid gland does not produce enough hormones. It is oftentimes caused by an iodine deficiency, but can be caused by many other factors.

    This upsets the balance of chemical reactions within the body, which over time can lead to various health problems. In infants, severe hypothyroidism can lead to cretinism, a condition where a child will be afflicted with stunted physical and mental growth.

    Hypothyroidism can be treated with a synthetic thyroid hormone.

I

  • In situ is Latin for "in position", or in the natural position or place. In a biological sense, this means that something can be examined in the place where it occurs. An example would be examining a cell within an intact organ in the body.

  • In utero means in the uterus, before birth. 

    This comes from Latin, meaning "in the womb".

  • Latin for "in glass", in vitro means that a cell or other component has been removed from their biological surroundings and isolated in order to allow a different analysis than can be done with it located inside of the organism.

    Due to the nature of complex organisms such as humans, the value of removing a cell is the ability to explore its basic function, which contributes to greater understanding of its larger function.

    Most commonly, in vitro is known for its role in in vitro fertilization, which combines sex cells outside of the body and then implants the resulting embryo into the uterus of the mother.

  • In vivo is Latin for "within the living". Using an entire living organism, in vivo allows for the overall effects to be observed. Once individual parts are removed or isolated, testing is no longer in vivo.

    In vivo testing is done during clinical trials for drugs, where the effects of the drug on the entire body is under observation.

  • Induced pluripotent stem cells (iPSCs) are adult skin or blood cells that have been genetically modified to act as an embryonic stem cell. This allows an unlimited source of the cell. 

    iPSCs are helpful for drug development and disease modeling. 

    What are induced pluripotent stem cells? Check out this video from our friends at Stem Cell Network.

  • Disorder that appears before adulthood noted by impaired cognitive functioning. This consists of both mental functioning and the ability for the individual to function in their environment. 

    Intellectual disability is characterized by behavior. Characteristics include: delays in language development, memory skill deficits, difficultly learning social cues, difficulty with problem- solving, delays in self-care skills, and lack of social inhibitors. Those with intellectual disability often require more time to learn, with more repetition. 

    Intellectual disability is a spectrum, ranging from mild to severe. There are differences between intellectual disabilities and learning disabilities or behavioral disorders, and they should not be confused with one another. Causes of intellectual disability include genetics, issues during pregnancy, issues at birth, other health problems, or traumatic brain injury during a person's life. 

  • Introns are non-coding sequences of DNA. Found with exons, introns do not have the ability to code proteins. Introns are located between exons.

  • Iron deficiency is a lack of iron in the cells which can interfere with the ability of cells to carry oxygen to tissues, transport electrons, and complicate enzyme reactions.

    Lack of iron can lead to iron deficiency anemia, a condition where the body's stores of iron have been depleted, affecting the production of red blood cells. During pregnancy, lack of iron can increase the risk for giving birth to preterm babies, In infants, iron deficiency can delay motor and mental functions.

    Iron deficiency can be treated with iron supplements and diet.

J

  • Jargon refers the vocabulary used by those within a specific group. This vocabulary is developed to express ideas that specifically relate to that group and can be used as a barrier to access.

K

  • A karyotype analysis is the organization of the number of chromosomes in the nucleus of a cell, as well as the complete number of chromosomes in an organism. This can be performed on any type of tissue to identify genetic causes of a disorder. 

    Karyotyping allows the study of the amount of chromosomes and their structure. Attention is brought to physical characteristics, and chromosomes are ordered and numbered by size, allowing scientists to note differences. 

  • Knock-in is a method of genetic engineering that involves inserting a protein coding DNA sequence in an organism's chromosome, often used to create disease models.

  • Knockout is method of genetic engineering where a gene is made inoperative. 

    Used to learn about a gene that has been sequenced, but whose function is unknown or incompletely known. The differences between the engineered organism and normal organisms are studied from this point. This can also refer to breeding organisms without that gene in order to produce a specific population of organisms.

L

  • A layperson refers to any person who is not a professional on a subject. 

    Layperson comes from the word "laity", meaning "common people."

  • A lead compound is a chemical compound that has pharamacological or biological activity that has the likelihood to be therapeutically useful in drug discovery. It is from the lead compound that a drug will be developed. 

    Oftentimes this means that the beneficial effects of the compound needs to be optimized and the side effects minimized. 

  • Lysosomal storage disorders are a group of around fifty conditions that are caused by lack of specific enzymes that usually eliminate unwanted substances from human cells. The lack of enzymes cause a buildup of substances that become toxic, which causes inefficient functioning of cells. 

    Lysosomal storage disorders are caused by genetics. Both parents must pass along the faulty gene for the condition to develop.

  • Lysosomes are organelles found in cells whose purpose it is to break down materials into other compounds to be used or discarded. 

    Lysosomes play an important role in cellular maintenance. They create digestive enzymes in order to break down food, allow worn organelles to be recycled, defend cells from bacteria, and repair the cell membrane. 

    The inability for lysosomes to properly function is linked to neurological conditions. 

M

  • Malnutrition is a condition where the body does not receive enough of the nutrients that it requires to properly function, whether too much or too little. This can result from inadequate or unbalanced diet, problems with digestion or absorption, or certain medical conditions. 

    Malnutrition can lead to decreased physical and mental development in childhood and is the largest contributor to disease. Depending on what is under or over abundant in the diet, different nutrition disorders can arise, ranging from starvation to obesity. 

  • MECP2 represents methyl CpG-binding protein, a gene that provides instructions for making MeCP2 protein. 

    According to Genetics Home Reference, "The exact function of this protein is unclear. It appears to help regulate gene activity (expression) by modifying chromatin, the complex of DNA and protein that packages DNA into chromosomes. The MeCP2 protein is present in cells throughout the body, although it is particularly abundant in brain cells."

    MeCP2 protein is important for the function of cells, including neurons, and is believed to help process messenger RNA (mRNA).

    Mutations on MECP2 have been associated with Rett Syndrome, some forms of intellectual disability, and autism. 

  • A mediator (MED) complex is a regulator of gene expression with a high degree of structural flexibility that regulates the ability for RNA polymerase II enzyme to express protein-coding genes. MED works with RNA polymerase II to read and transmit DNA information for cell division. These are targeted to control gene expression programs by responding to developmental or environmental cues. 

    Mediator is essential in converting biological inputs to physiological responses. 

  • Mesenchymal stem cells are somatic stem cells that are able to create more than one cell in the human body (multipotent). They are found in the skeletal tissue, including cartilage, bone, fat cells, and most commonly, bone marrow with the ability to support formation of blood cells. 

  • Metabonomics is the analysis of the metabolic profile of a system in order to see changes in metabolism due to enviromental factors, diet, toxins, and disease.

  • A microarray is an analytical tool that has the ability to examine large amounts of biological material on one small glass slide or other membrane. This is beneficial since it allows large samples to be compared and studied at the same time.

    DNA microarray technology is used to study which genes are active in different cell types to understand how cells function normally and when they are affected and do not perform properly.

  • Microglia is a type of glial cell that is found in the brain and spinal cord. They act as a form of defense for the central nervous system by recognizing and destroying foreign bodies such as plaques, infections, and damaged neurons. Microglia small changes to the brain tissue,  and are able to neutralize DNA fragments, neural tangles, dead or damaged cells, and foreign materials.  

    Microglia is also important in neurodegeneration, or the progressive loss of neurons from the brain, by helping to delay the progression of neurodegenerative diseases. 

  • First discovered in 1993, MicroRNAs (miRNA) are small RNA molecules that work to coordinate gene expression.

    In the early 2000's, miRNA was classified as a distinct biological regulator that was likely to be involved with most biological processes due to its role in gene expression, including abnormalities in genes. 

  • Mitochondrial diseases are the result of mutations in DNA that alter the function of proteins or RNA that usually reside in mitochondria. Since mitochondria are responsible for producing energy in cells that are needed for the body, mitochondrial diseases involve cell injury and cell death. 

    Mitochondrial diseases are often inherited. Symptoms include poor growth, loss of muscle coordination, weakness, visual and auditory issues, learning disabilities, heart, liver, and kidney disease, and neurological issues.

    Since the effects can be so varied, mitochondrial disease is seen as a spectrum. 

  • Molecular biology is a scientific field that deals with genes and how they are expressed in cells. 

    It concerns itself with the molecular basis of biological activities, including DNA replication, gene expression, and phenotypic characteristics. 

  • Molecular mechanisms are systems of interacting processes that produce effects. In diseases, this means that the molecular and cellular basis of a condition is important to understand the disease and designing treatments. 

  • Monoamines transmit signals from a neuron to a cell. Monoamines are either catecholamines or indolamines. Catecholamines operate in the sympathetic and central nervous systems. Indolamines consist of serotonin and are spread throughout the body's tissues. 

    Dysfunction of monoamines can lead to neurological symptoms related to the transport of dopamine, norephinephrine, epinephrine, and serotonin. 

  • Motor skills is the ability to control specific muscle movements. Muscle movements develop strongly from the head downwards. Babies develop the ability to control their heads before controlling hand movements.

    Motor skills can be identified as gross or fine. Gross motor skills involve large muscles such as arms and legs. Fine motor skills involve more complex actions with smaller muscles.

    Motor skills indicate development. Delayed motor skill development can indicate a neurological condition.

  • Mucopolysacchidosis VII is a lysosomal storage disease where an enzyme deficiency leads to the build up of certain complex carbohydrates in tissues and organs of the body.

  • Multipotent refers for the ability of a cell to develop into multiple cell types but not all cell types. For example, stem cells found in bone marrow can give rise to all blood cell types but not other cells. Multipotent cells can self-renew for long periods of time.

    These cells work to replace other cells throughout an individual's lifetime. Multipotent cells are useful in transplants since it decreases the likelihood for a rejection by the individual's immune system. 

    Examples of multipotent cells are adult stem cells and cord blood stem cells.

  • Myelin is the insulation that forms around nerves with the purpose of acting as an electrically insulating layer. Created by glial support cells, myelin allows impulses to quickly travel through nerve cells, and consists of proteins whose function differs depending on where it is employed in the body. 

     If the myelin is damaged, these impulses slow down, leading to health conditions. The Central Nervous System (CNS) differs from the Peripheral Nervous System (PNS), and the ways that myelin is synthesized in each of these creates different complications. Demyelination occurs when the body attacks its own healthy myelin, eventually so badly that no further replacement of myelin is possible.

  • The myelin sheath is the layer of fat and protein that insulates the axon of a neuron. The purpose of this is to ensure that electrical signals are passed quickly, ensuring that the nervous system reacts effectively.

  • Myocyte-enhancer factor-2 (MEF2) are transcription factors that control gene expression and regulate cellular differentiation and play a huge role in embryonic development.

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  • Recently emerging. 

    For example, a young child can be said to have nascent language abilities as they begin to learn to speak. 

  • Also called neurons, nerve cells are part of the body's nervous system, consisting of the brain and spinal cord. They transmit information through electrical and chemical currents with other neurons. 

  • Neural stem cells are self-renewing, multipotent cells of the nervous system.
  • Neurodegeneration is the progressive loss of neuron function. This eventually leads to death of the cell.

    Neurodegeneration can be affected by genetics, medical conditions, toxins, chemicals, and viruses, amongst others. 

  • Neurodegenerative diseases and movement disorders is an umbrella term that encompasses a variety of conditions that affect the neurons of the brain. Movement and mental functioning are affected by these disorders.

    Neurodegenerative diseases result in the deterioration or death of nerve cells. There is currently no cure for these conditions. 

    Examples of conditions include but are not limited to: Alzheimer's disease, Parkinson's disease, Prion disease, motor neuron diseases, Huntington's disease, Spinocerebellar ataxia, and Spinal muscular atrophy. 

  • Neurofeedback is the use of brain feedback to teach self-regulation and efficient brain functioning. Using an electroencephalogram (EEG), electrodes are attached to the scalp to measure brainwaves. Heart function, breathing, muscle activity, and skin temperature are also recorded. This brainwave activity is then analyzed and changes in thinking, emotions and behavior are used to support changes. Eventually, the individual trains their brain to respond without the use of external instruments. 

    Neurofeedback is most commonly used in ADHD, autism, epilepsy, cerebral palsy,  stroke, and traumatic brain injury. The intent is to teach individuals to train very specific brain regions that relate to certain conditions. 

  • A neurogeneticist is someone that studies the impact of genes on the brain and nervous system.

    Neurogenetics increases the understanding of disease in order to develop therapies.

  • Concerned with the brain, spinal cord, and nerves of the body, also known as the Central Nervous System. 
  • A neurologist is a specialist concerned with disorders of the brain and nervous system, including movement disorders, speech and language disorders, and seizure disorders. 

  • Field of science and medicine concerned with the brain, spinal cord, and nerves of the body, also known as the Central Nervous System.

  • Also known as nerve cells, neurons are cells that transmits information through electrical and chemical signals. 

    Neurons are the core of the Central Nervous System. The human brain has about 100 billion neurons alone. Neurons communicate with one another through dendrites (bring electrical signals to the cell) and axons (take electrical signals from the cell body).

    Neuron types include sensory, motor, and interneurons. Sensory neurons move information to the CNS, motor neurons move information from the CNS outwards, and interneurons allow sensory and motor neurons to communicate directly.

  • Neurotransmitters are chemicals that transmit signals between neuron through a synapse. In order to be classified as a neurotransmitter, a chemical must be produced and fond within a neuron, it must release a chemical, and cause a biological effect. 

    Neurotransmitters are classified as amino acids, peptides, and monoamines.

  • Neurotropenia is a low count of neutrophils. Neutrophils are an infection-fighting white blood cell. 

    A low count of neutrophils means a higher susceptibility to infections, particularly bacterial and fungal infections. 

    Neurotropenia can go away on its own or be treated with medicines or blood donation. 

  • Neurotrophins are proteins that work to regulate the development, maintenance, and function of neurons. 

    They are classified as growth factors due to their promotion of nerve cell growth and survival. 

  • Newborn screening is testing that occurs 24 to 48 hours after birth. The tests identify certain conditions that can affect the health of a child, such as specific endocrine, genetic, and metabolic disorders, as well as hearing loss.

    Testing varies by state. Blood will be taken from the heel of a baby and analyzed based on the requirements of that state. 

  • Non-verbal language is the way to send and receive messages without using words. 

    Many of those with neurological conditions rely on non-verbal language to communicate with their families and caregivers. 

    Non-verbal language includes:

    • touch
    • body movement
    • eye contact and gaze
    • volume
    • space and proximity
    • gesture
    • facial expression
    • posture
    • sounds

  • Nonverbal Learning Disorder is a disorder that is characterized by a significant difference between a person's exemplary verbal skills and poor motor and social skills. These individuals oftentimes have trouble with nonverbal cues.

    Symptoms include inability to recognize facial expression or body language, poor motor coordination, issues using fine motor skills, difficulty coping with change of routines, has difficulty following instructions, makes literal translations, asking too many questions, and has extremely strong verbal skills. 

  • The nucleus is the part of the cell that contains DNA and controls the activities of the cell, including gene expression, duplicating DNA, and passing on hereditary traits.

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  • Occupational therapy is therapy through the use of everyday activities. This therapy focuses on the progress of goals, adapting the environment and teaching the skill in the best way possible. Unlike physical therapy, occupational therapy deals with fine-motor, perception, cognitive, and sensory skills. 

    Examples of work done by occupational therapists can include work on fine motor skills, addressing hand-eye coordination, coping with behavioral disorders, coordination skills, evaluate need for specialized equipment, and work to improve focus and social skills. 

  • Oligodendrocytes are a type of brain cell whose purpose it is to provide support and insulate axons in the Central Nervous System by creating the myelin sheath. They work to speed up the electrical signal that travels through an axon.

  • Oligopotent refers the ability for a stem cell to differentiate between only a a few cell types. 

  • Organelles are structures within the cell. Like organs in the body, organelles each have a specific purpose but work together for the function of the cell as a whole. Organelles in a cell include cell walls, cell membranes, cytoplasm, nucleus, vacuole, and lysosomes, to name a few.

  • An orphan disease is another name for a rare disease, any disease that affects a small portion of a population.

    The term orphan disease is also used to describe diseases that are "neglected" by doctors, meaning that there is not a lot of funding dollars or laboratory work going into its research.

    In the United States, an orphan disease is one that affects fewer than 200,000 people. 

  • An orphan drug is a drug that has been developed in order to treat an orphan, or rare, condition.

P

  • Peptides are compounds present in the body that link amino acids, creating chains that turn into proteins. Depending on the amino acids involved, peptides can regulate hormones, act as antibiotics, and perform various other functions in the body.

  • The Peripheral Nervous System (PNS) is the nervous system outside of the brain and spinal cord, largely consisting of nerves that travel from these areas to other parts of the body. It's function is to connect limbs and organs to the Central Nervous System (CNS). 

    The PNS is broken into the somatic nervous system and the autonomic nervous system. The somatic nervous system consists of skeletal muscle, peripheral nerve fibers, and motor nerve fibers- it connects body movements and external stimuli. The autonomic nervous system controls the internal organs and glands. 

    Since it is not protected by the blood-brain barrier like the CNS, the PNS is left exposed to injury and toxins.

  • Personalized Medicine is a response to the "one size fits all" method of treating sickness and disease by understanding the unique genetic makeup of each individual and tailoring medical treatments to the specific person. 

    Personal genetic distinctions are used to select treatments that better fit with the individual's molecular make up in order to minimize reactions and provide the best possible treatments for disease. 

  • Phenotypes are the outward, physical manifestation of an organism. These are the observable traits, such as eye color or height, that are influenced by genetics, environmental factors, and interactions between the two. 
  • A physical disability is a loss of body functions or body part. 

    The Americans with Disabilities Act defines this as "any physiological disorder or condition, cosmetic disfigurement, or anatomical loss affecting one or more of the following body systems: neurological, musculoskeletal, special sense organs, respiratory (including speech organs), cardiovascular, reproductive, digestive, genitourinary, hemic and lymphatic, skin, and endocrine."

  • Physical therapy is therapy focused on pain, strength, motion, endurance, the ability for the body to regain strength, relearn skills, or discover new ways of doing physical activities.

    This is done through exercise, manual manipulation, education, and other methods. 

  • Pluripotent refers to cells that can become any and all of the cells of the organism. Along with the ability to become any bodily cell, pluripotent cells have self-renewal qualities, which means that can create copies of themselves. Pluripotent cells can be induced pluripotent cells or embryonic stem cells.

  • A progenitor cell is a cell that can form one or more kinds of cells, but can only replicate a limited number of times. While related to stem cells, progenitor cells have a more limited function. 
  • A progressive disorder is an ailment that worsens and spreads over time. While some progressive disorders can have extremely serious consequences, some progressive disorders can be halted or reversed through active treatment. This can range from rapid to slow progression. 

    A nonprogressive disorder is one by which the condition remains stable but does not worsen over time.

  • Proteins are molecules made up of amino acids that do much of the work in cells and required for the function of tissues and organs. The ways that the specific amino acids combine contribute to the specific function of the protein. 

    Proteins can act as antibodies (bind to particles, viruses, and bacteria to protect the body), enzymes (carry out chemical reactions and read DNA), messengers (transmit biological signals), structural components, and transportation and storage.

  • The study of proteins and their structures and functions, generally through large scale analysis of proteins. A pretome refers to an entire set of proteins.

    Proteomics can benefit disease treatment by understanding which specific proteins are associated with a disease.

  • Purkinje cells are neurons with many branching extensions that are found at the base of the brain in the cerebellar cortex. They are one of the largest neurons and are responsible for most of the electrical signaling in the brain.

    Purkinje cells can submit neurotransmitter GABA which reduces how nerve impulses can be transmitted.

    Purkinje cells relate to motor functions and can be affected by genetic and acquired disorders.

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  • A rare disease is defined in a few ways. In Europe, a disease is rare if it affects less than 1 in 2, 000 people. In the United States, a disease is rare when it affects less than 200,000 people. There are around 6,800 rare diseases known to the National Institutes of Health. 

    Eighty percent of rare diseases have genetic origins, and fifty percent affect children.

    A rare disease may also be referred to as an orphan disease.

  • To be a recessive means that a gene needs to be inherited from both parents in order to be expressed. While this does not mean a condition will necessarily be shown, but increases the likelihood that it will be manifest. If both parents carry the recessive gene, there is a 25% chance the child will also have the recessive trait. 

  • Regenerative medicine is the science behind creating new living cells, tissues, or organs to restore or recreate function. This works by either creating anew or by coercing the body to self-repair and regenerate. It encompasses a varied amount of existing and new treatments.

  • RNA

    Short for ribonucleic acid, RNA are molecules present in cells that works to transmit genetic data. From assisting to DNA to copy genes to regulating gene expression, RNA is critical to life.

    RNA types include ribosomal RNA (carries DNA to the site of protein synthesis), transfer RNA (transfers amino acids to polypeptide chains), and messenger RNA (carries information to the ribosome).

  • RNA polymerase II (RNAP II)  is an enzyme that has the capacity to unwind the DNA double helix and synthesize RNA. This is crucial; before a cell can divide, the  information must be transcribed on strands of RNA. RNAP II combines with the Mediator complex, which controls the transcription process, and can successfully interpret the genetic code. 

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  • Schwann cells are the principal glial cell if the peripheral nervous system that provide the insulation, also known as myelin, to neurons. Schwann cells maintain axons and are key in keeping peripheral nerve fibers alive.  
  • The scientific method is a list of steps taken in science to ensure scientific fact. The scientific method is seen as unprejudiced and allows for repetition of an experiment to determine its validity.

    The scientific method follows these basic steps:

    1. Observe
    2. Develop a hypothesis from the observation
    3. Use hypothesis to create a prediction
    4. Test the prediction through further experimentation and analyze hypothesis based on these results. If the experiments match the prediction, there is evidence supporting the hypothesis. If the experiments do not match the prediction, the hypothesis needs to be reconsidered or the experiment redesigned.


  • Stem Cell Research Oversight (SCRO) is a committee whose purpose it is to ensure that all research on human subjects and research using stem cells is well-justified and appropriate.  

    The committee members are made up of individuals from various backgrounds who ensure that all research is appropriate and ethical.

  • A seizure is muscle twitches and spasms associated with multiple neuron disruptions in the brain. 

    The two types of seizure are a generalized seizure and a partial seizure. Generalized seizure are everywhere in the brain at once, while a partial seizure begins in one location of the brain.

    A seizure consists of three stages. The aura is the start of seizure and can be broken down into a simple partial seizure (aura is the only part of the seizure experienced), a complex partial seizure (seizure affects consciousness), or a generalized seizure (seizure spreads to the rest of the brain). The ictus is the physical seizure. The postictal are aftereffects associated with the seizure.

    A seizure is a single occurrence while epilepsy is two or more unprovoked seizures.

  • Sensory integration therapy (SI) is therapy with a focus on development and learning issues, specifically surrounding sensory processing issues.

    Sensory issues can revolve around touch, smell, hearing, taste, or sight- the five senses.  

    Sensory and movement challenges suited to the needs of the individual are presented and increased over time. 

  • Signal transduction is the process that occurs when an external or internal trigger produces an internal response. This specifically occurs when an extracellular signaling molecule activates a cell receptor, which creates a response through intracellular molecules. 

    An example of this process is eating spicy foods, causing a release of endorphins, which prevents nerve cells from releasing pain signals. 

  • Somatic cells are also referred to as adult stem cells. These cells make up organ, skin, bone, blood, and connective tissues. Sperm and egg cells are not somatic cells. 

    These cells can become any or most of the cells in the tissue in which it is found. These cells are self-renewing. 

    Somatic cells contain two sets of chromosomes, one from each parent. Mutations in these cells can affect the individual but are not passed to offspring.

  • Somatic Cell Nuclear Transfer (SCNT) is a technique used in regenerative medicine whereby the nucleus of an adult stem cell is programmed into an empty egg cell. This reprogrammed egg will divide and become a blastocyst with nearly identical DNA to the original organism.
  • Speech therapy is therapy focused around language, communication, speech, and swallowing. Working with a speech pathologist, specific speech issues can be addressed and tools utilized to assist the individual patient.

    Speech therapy can be beneficial to babies with feeding and swallowing issues, children with learning difficulties, physical disabilities, language delay or impairment, voice disorders, and social interaction difficulties, or adults with neurological and degenerative conditions, amongst others.

  • Stem cells are cells that can indefinitely divide and renew specialized cells. Stem cells can be classified as embryonic or somatic. Embryonic stem cells become every cell in the human body. Adult stem cells are later-stage cells that are found in specific tissues of the body and work to replenish and repair those tissues throughout the life of the organism. 


    What is a Stem Cell?  Check out this video from our friends at the Stem Cell Network. 


  • A syndrome is defined by the University of Michigan as a disease or disorder that has more than one identifying feature or symptom. 

    A characteristic of a syndrome is that while these features may go together, their cause is unknown and may not be traced back to one anatomical place.

  • Synergy is the interaction of multiple parts in order to create a different or greater form than the individual role. 

T

  • The Montreal Procedure is a method of epilepsy surgery developed in the 1950's by Dr. Wilder Penfield.

    This method of surgery involves keeping the patient awake to pinpoint the source of epilepsy. The surgeon would expose the brain and probe the brain tissue, allowing the patient to provide feedback. When the location of seizures was pinpointed, the tissues that were affected would be removed or destroyed.

  • A tissue bank is a place where human tissue is stored for research and education. 

  • Totipotent refers to the ability for a single cell to create all of the specialized cells in an organism, in essence, to create an entire organism. The only cells that are totipotent are embryonic cells within the first few cell divisions after fertilization.
  • Transcription factors are proteins that control genes in the genome by binding to DNA sequences, allowing genetic information to flow from DNA to RNA. They work alone or in groups, working to either assist or block the transmission of genetic material to specific genes to make them more or less active. 

    Transcription factors are necessary for the regulation of genes. For example, different genes are activated for heart cells than skin cells. This allows all of the cells in the body, which have the same exact genome, to function differently. 

    Transcription factors play an important role in development, cellular signaling, and cell division and duplication. Mutations in transcription factors include diabetes, cancer, and autoimmune diseases. 

  • Trophoblast stem cells (TSC) are the first stem cells to differentiate after fertilization. They are responsible for the implantation of an embryo and and constructing the placenta. 

V

  • A validation study is the method used to establish efficiency and efficacy of a drug and ensures that the intended effect is produced. 

    A validation study is done against a control. 

  • A difference in the genetic sequence whose association with a disease is unknown until further study. 

  • Verbal communication is the ways that humans transmit information through sounds and language. 

W

  • White matter refers to tissues of the brain that contains nerve fibers. Its main function is to facilitate communication between gray matter and the body.

    Issues with white matter can affect the central nervous system. 

  • Abbreviated as WNL, within normal limits means that the results are within the range of what is considered normal. 

X

  • An x-linked gene means that the mutation occurs on a gene in the x-chromosome. For males, the single recessive gene on that chromosome is more likely to cause a disorder since males have one x and one y chromosome. Females, who have two x chromosomes, are less likely to show the recessive gene. 

    For females to receive x-linked gene disorders, both parents must be x-linked carriers of the condition. A woman who has the condition on one x-chromosome will be a carrier.