Words, explained

How common a particular gene version is in a population.

A person's population background, which can affect how common certain variants are.

Programmed, controlled cell death that the body uses on purpose, including to clear the seam during palate fusion.

Same word your class uses: Cell processes in tissues

The bioethics principle that people have the right to make decisions about their own care.

An inheritance pattern in which one altered copy of a gene is enough to cause the condition.

Same word your class uses: Inheritance patterns

The bioethics principle of acting for the patient's benefit.

A variant classified as not disease-causing, often because it is common in healthy people.

The study of what we should and should not do in medicine and research, weighing benefit, risk, consent, and fairness.

The protein that acts as the molecular scissors in CRISPR, cutting DNA where the guide RNA directs.

When one factor actually brings about another, shown by controlled evidence, not just association.

A cadherin protein that helps cells stick together (cell-to-cell adhesion); disruption can break the tissue networks needed for fusion.

The final identity a cell commits to (for example, bone vs cartilage), set by the genes it turns on.

An effect that plays out inside the very cell carrying the change, rather than in its neighbors.

The group (surgeon, ENT, audiologist, speech-language pathologist, orthodontist, geneticist, and others) who coordinate a patient's care over years.

A gap in the upper lip that happens when the lip prominences do not fully fuse, on one or both sides.

An opening in the roof of the mouth that happens when the palatal shelves do not fully fuse.

An NIH database of reported DNA variants, the conditions they are linked to, and a clinical-significance call for each.

A marker version and a disease being inherited together in every affected family member; evidence the gene sits nearby.

A DNA change inside the protein-coding part of a gene.

Reduced hearing because sound is blocked from passing through the outer or middle ear, as when fluid sits behind the eardrum.

When a sequence stays similar across many species, a sign it does an essential job.

The comparison condition that isolates the effect of the variable being tested.

Two things tending to occur together, which does not by itself prove one causes the other.

A migrating population of cells that leaves the early neural folds and becomes most of the bone, cartilage, and connective tissue of the face.

A tool that uses a guide RNA to bring the Cas9 protein to a chosen DNA site and cut it so a sequence can be changed.

A tool that uses a guide RNA to bring the Cas9 protein to a chosen DNA site and cut it, so a sequence can be changed.

The limited stretch of development (here, about weeks 4 to 12) during which a structure must form correctly or a defect results.

Same word your class uses: Timing in development

The carrier (such as a virus or nanoparticle) used to get a gene-editing tool into the right cells.

The outcome the researcher measures.

The process by which an unspecialized cell becomes a specialized cell type.

A known, variable spot in the genome used as a trackable signpost; it is not the disease gene itself.

The part of a transcription factor that grips DNA so it can switch target genes on or off.

A faulty protein that not only fails itself but also interferes with the good copy made from the other allele.

Genes or events that come later in a pathway, controlled by something upstream of them.

The developing human from about week 3 to week 8, when most organs and the face first take shape.

A recurrence risk estimated from observed family data rather than a single-gene calculation.

A stretch of regulatory DNA that boosts how strongly a nearby gene is transcribed.

When sheet-like epithelial cells loosen their bonds and become migratory mesenchymal cells; part of how the seam between fused palatal shelves disappears.

A sheet of tightly joined surface cells, such as the lining whose edges must clear for palatal shelves to fuse.

The bioethics principle that benefits and access should be distributed fairly.

The passage that drains and equalizes pressure in the middle ear; palate muscles help open it.

One of the five swellings of tissue (one frontonasal, two maxillary, two mandibular) that grow toward the midline and fuse to build the face.

A trait that appears in more than one relative, often across generations.

An insertion or deletion not a multiple of three that re-groups every codon after it, scrambling the rest of the protein.

When two growing tissue edges meet at the midline and join into one continuous structure.

Same word your class uses: How structures form and join during development

A stretch of DNA that codes for a product (usually a protein) and carries an instruction for the cell.

Same word your class uses: Genes code for proteins

Repairing a disease-causing DNA change back toward the healthy sequence.

The web of genes that turn each other on and off to control a process like palate fusion.

Treating disease by adding, silencing, or correcting a gene in a patient's cells.

Adjusting how much product a gene makes, up or down, as a treatment idea.

When a genetic risk and an environmental factor (such as smoking or low folate) combine to raise risk more than either alone.

One layer of a family tree (grandparents, then parents, then children).

A specialist who explains genetic findings and recurrence risk to families and supports their decisions.

The set of gene versions an individual carries.

A link between which variant a person carries and how severe or which features they show.

The egg, sperm, or embryo cells; changes here pass to future generations.

Editing eggs, sperm, or embryos, so the change is heritable; ethically restricted.

Germline edits change egg, sperm, or embryo and pass to future generations; somatic edits affect only the treated person.

A short RNA that matches a target DNA sequence and steers Cas9 to the right spot.

When one working copy of a gene cannot make enough product, so losing the other copy causes the trait.

A gene or protein in another species that descends from the same ancestor; conservation across species hints it is important.

A testable, falsifiable statement that predicts an outcome.

Treatment delivered before birth, during the developmental window when a structure is still forming.

The one factor the researcher changes on purpose.

A person's voluntary agreement to a procedure after understanding its benefits and risks.

Interferon Regulatory Factor 6, a transcription factor essential for the skin-like cells that let the lip and palate fuse; a leading cleft gene.

A trait that appears in one person with no clearly affected relatives.

An organism or cell engineered to have a gene switched off, to see what that gene normally does.

A person's total built-up risk from all their genetic and environmental factors combined.

The level of total liability above which the trait (here, a cleft) appears.

The tendency of two spots close together on a chromosome to be inherited together.

Small paired depressions on the lower lip; the hallmark sign that flags Van der Woude syndrome.

A specific chromosomal address (location) of a gene or marker, such as 1q32.

A change that reduces or removes a protein's normal activity.

A regulatory protein (transcription factor) or signal that flips a cell into one fate program rather than another.

The cell layer on the inner edge of each palatal shelf; it must be removed (by apoptosis and EMT) for the shelves to fully join.

Loose, mobile connective-tissue cells (here, largely from neural crest) that fill and shape the growing facial prominences.

The imaginary center line of the body; many facial structures form by growing toward and meeting at it.

A DNA change that swaps one amino acid; the protein stays full length but may be altered.

A specific variant that changes one amino acid in the protein (for example IRF6 R84C).

A species (here zebrafish or mouse) studied because its biology is similar enough to ours to teach us about human development.

The working copy of a gene that carries its message out of the nucleus to be read.

A transcription factor active in the epithelial-mesenchymal signaling that shapes teeth and palate.

Caused by several genes together with environmental factors, not one gene alone.

A trait caused by many small genetic and environmental factors adding up, not one gene alone.

A change in the DNA sequence; some change a protein enough to cause disease, many do not.

Same word your class uses: Mutations and their effects

When a person carries a disease-linked variant but does not show the trait.

A DNA change that creates an early stop codon, cutting the protein short.

A cleft that occurs on its own with no other features (about 70% of clefts).

A number comparing the odds of carrying a factor in affected versus unaffected people; above 1 means associated.

An unintended edit CRISPR makes at a site that resembles the target; a key safety concern.

A catalog of genes and the inherited diseases they cause, each with a stable reference number.

The matching version of a gene in another species, descended from a common ancestor.

Fluid trapped behind the eardrum, common in cleft palate, which can muffle hearing.

One of two tissue ledges that start beside the tongue, swing up to horizontal, and meet at the midline to make the secondary palate.

A variant classified as disease-causing based on the weight of evidence.

A genetic change classified as disease-causing (a ClinVar category).

A family tree drawn with standard symbols (squares for males, circles for females, filled for affected) so any geneticist can read a family at a glance.

The fraction of people with a disease-linked genotype who actually show the trait.

In a BLAST result, the share of positions that match between two sequences; higher means more alike.

A thin temporary outer cell layer of the embryo; if it sticks where it should not, edges cannot fuse.

The observable trait that results from genotype plus environment (here, the cleft itself).

Same word your class uses: Genotype to phenotype

Research done in cells and animals before a treatment is ever tested in people.

The front part of the roof of the mouth, including the area behind the upper front teeth, formed early from the intermaxillary segment.

The person whose case brought the family in for study, marked with an arrow on the pedigree.

The molecular machine or building block a gene's instructions are used to build.

A distinct functional or structural part of a protein, such as IRF6's DNA-binding domain.

How a chain of amino acids settles into a 3D shape, which determines what the protein can do.

The folded 3D shape of a protein, which determines what it can do; predicted by tools like AlphaFold.

The part of a protein that attaches to other proteins to do its job.

Evolution removing harmful variants over time, which is why important sequences stay conserved.

The run of three-letter codons the ribosome reads in order; a frameshift throws it off.

The shuffling of chromosome pieces during egg and sperm formation, which can occasionally separate a marker from a nearby gene.

The chance that a future child in the same family will also be affected.

When more than one gene can do a job, so losing one is partly covered by another.

A DNA change outside the coding region that alters when or how much a gene is switched on.

Repeating a study to see if the result holds; a key test of whether a finding is real.

Adding a working gene back to a knockout to see if it restores the normal trait, proving the gene's role.

A focused, answerable question that frames a study.

A common gene version that nudges liability up a little, without causing the trait by itself.

The larger back part of the roof of the mouth that forms when two palatal shelves rise and fuse.

Lining up two sequences position by position to measure how similar they are (what BLAST does).

When a DNA or protein sequence stays similar across species over evolution, a sign it does an essential job.

The part of an amino acid that gives it its chemistry; changing it can change how the protein folds or works.

The protein-partner region of IRF6 (the IRF-association domain) that lets it team up with other proteins.

Body cells other than egg and sperm; changes here affect only the treated person.

Editing body cells of one patient, so the change is not passed to children.

A change at an intron/exon boundary that causes the wrong pieces of mRNA to be joined.

The principle that a molecule's shape determines what it can do, so breaking the shape breaks the job.

The staged schedule of repairs, lip first in infancy, then palate, with later steps as the child grows.

A cleft that comes packaged with other features as part of a named syndrome (about 30% of clefts).

Syndromic clefts come with other features as part of a named syndrome; non-syndromic clefts occur on their own.

Building a molecule in the cell, as in protein synthesis (making a protein from mRNA).

A transcription factor whose variants are linked to cleft palate, sometimes with a tied-down tongue (ankyloglossia).

A palate muscle that opens the Eustachian tube; a cleft can change how it works, hurting ear drainage.

A signaling protein that tells the medial edge epithelium of the palatal shelves to clear so the shelves can fuse.

The idea that a trait appears only when a person's total liability crosses a set line.

The first step of making a protein: copying a DNA gene into messenger RNA.

A protein that binds DNA and turns specific genes on or off, controlling what a cell becomes and does.

Same word your class uses: How genes are regulated

The second step of making a protein: the ribosome reads the mRNA and builds a chain of amino acids.

Genes or events that come earlier in a pathway and control what happens downstream.

The most common single-gene cause of cleft lip and palate, usually from an IRF6 mutation, often with small lip pits.

The most common single-gene cause of cleft lip and palate, usually from an IRF6 change, whose hallmark is small lower-lip pits.

A genetic change whose effect on health is not yet known.

An affected person appearing in almost every generation, parent to child; the signature of a clean dominant trait.

A cell-to-cell signaling pathway that helps decide neural crest fate and drives skull and facial bone formation.