Mitochondrial diseaseMitochondrial disease is a group of disorders caused by mitochondrial dysfunction. Mitochondria are the organelles that generate energy for the cell and are found in every cell of the human body except red blood cells. They convert the energy of food molecules into the ATP that powers most cell functions. Mitochondrial diseases take on unique characteristics both because of the way the diseases are often inherited and because mitochondria are so critical to cell function.
ProgenitorIn genealogy, the progenitor (rarer: primogenitor; Stammvater or Ahnherr) is the – sometimes legendary – founder of a family, line of descent, clan or tribe, noble house, or ethnic group. Genealogy (commonly known as family history) understands a progenitor to be the earliest recorded ancestor of a consanguineous family group of descendants. Progenitors are sometimes used to describe the status of a genealogical research project, or in order to compare the availability of genealogical data in different times and places.
Citizen scienceCitizen science (similar to community science, crowd science, crowd-sourced science, civic science, participatory monitoring, or volunteer monitoring) is scientific research conducted with participation from the general public (who are sometimes referred to as amateur/nonprofessional scientists). There are variations in the exact definition of citizen science, with different individuals and organizations having their own specific interpretations of what citizen science encompasses.
Genetic discriminationGenetic discrimination occurs when people treat others (or are treated) differently because they have or are perceived to have a gene mutation(s) that causes or increases the risk of an inherited disorder. It may also refer to any and all discrimination based on the genotype of a person rather than their individual merits, including that related to race, although the latter would be more appropriately included under racial discrimination.
PrecuneusIn neuroanatomy, the precuneus is the portion of the superior parietal lobule on the medial surface of each brain hemisphere. It is located in front of the cuneus (the upper portion of the occipital lobe). The precuneus is bounded in front by the marginal branch of the cingulate sulcus, at the rear by the parieto-occipital sulcus, and underneath by the subparietal sulcus. It is involved with episodic memory, visuospatial processing, reflections upon self, and aspects of consciousness.
Genetic privacyGenetic privacy involves the concept of personal privacy concerning the storing, repurposing, provision to third parties, and displaying of information pertaining to one's genetic information. This concept also encompasses privacy regarding the ability to identify specific individuals by their genetic sequence, and the potential to gain information on specific characteristics about that person via portions of their genetic information, such as their propensity for specific diseases or their immediate or distant ancestry.
Spinal muscular atrophySpinal muscular atrophy (SMA) is a rare neuromuscular disorder that results in the loss of motor neurons and progressive muscle wasting. It is usually diagnosed in infancy or early childhood and if left untreated it is the most common genetic cause of infant death. It may also appear later in life and then have a milder course of the disease. The common feature is progressive weakness of voluntary muscles, with arm, leg and respiratory muscles being affected first.
Compound heterozygosityIn medical genetics, compound heterozygosity is the condition of having two or more heterogeneous recessive alleles at a particular locus that can cause genetic disease in a heterozygous state; that is, an organism is a compound heterozygote when it has two recessive alleles for the same gene, but with those two alleles being different from each other (for example, both alleles might be mutated but at different locations).
Family treeA family tree, also called a genealogy or a pedigree chart, is a chart representing family relationships in a conventional tree structure. More detailed family trees, used in medicine and social work, are known as genograms. Genealogical data can be represented in several formats, for example, as a pedigree or . Family trees are often presented with the oldest generations at the top of the tree and the younger generations at the bottom.
23andMe23andMe Holding Co. is a publicly held personal genomics and biotechnology company based in South San Francisco, California. It is best known for providing a direct-to-consumer genetic testing service in which customers provide a saliva sample that is laboratory analysed, using single nucleotide polymorphism genotyping, to generate reports relating to the customer's ancestry and genetic predispositions to health-related topics. The company's name is derived from the 23 pairs of chromosomes in a diploid human cell.