MI Unit 2 Test

single gene disorder

a disease caused by a known alteration or mutation in one of more than 20.000 genes in nearly every cell in the body. Single-gene disorder may be inherited from both members of a couple carry the same condition. It can also be inherited through one or more generations in the family.

multifactorial disorder

Conditions caused by many contributing factors are called complex or multifactorial disorders. Although complex disorders often cluster in families, they do not have a clear-cut pattern of inheritance.

chromosomal disorder

Chromosomal disorders are a type of genetic disorder that develop because of a change (mutation) in one or more of your child's genes.

mitochondrial disorder

Mitochondrial disease, or mitochondrial disorder, refers to a group of disorders that affect the mitochondria, which are tiny compartments that are present in almost every cell of the body.

maternal serum screening

a blood test that helps your doctor understand your baby's risk of conditions called chromosomal disorders that include: Genetic condition that causes developmental and cognitive delays.

chorionic villus sampling

prenatal test. It's used to test for chromosomal abnormalities and other genetic problems. During the test, a tissue sample is taken from the placenta and sent to a lab for analysis - diagnostic, done earlier

amniocentesis

a prenatal test that takes amniotic fluid from around your baby in the uterus (also called womb). The fluid is tested to see if your baby has certain health conditions - diagnostic, done later

ultrasound

a prenatal test offered to most pregnant women. It uses sound waves to show a picture of your baby in the uterus (womb). Ultrasound helps your health care provider check on your baby's health and development.

gene therapy

a technique that uses a gene(s) to treat, prevent or cure a disease or medical disorder. Often, gene therapy works by adding new copies of a gene that is broken, or by replacing a defective or missing gene in a patient's cells with a healthy version of that gene.

CRISPR bacteria

Microbes like bacteria and archaea use CRISPR-Cas9 as a part of their defense mechanism to ward off the virus and cleave their DNA.

Cas9 in the CRISPR system

binds to the DNA and cuts it, shutting the targeted gene off

in vitro fertilization

mature eggs are collected from ovaries and fertilized by sperm in a lab. Then a procedure is done to place one or more of the fertilized eggs, called embryos, in a uterus, which is where babies develop. One full cycle of IVF takes about 2 to 3 weeks

preimplantation genetic testing

a cutting-edge procedure used to identify genetic abnormalities in embryos created with in vitro fertilization (IVF). The goal of PGT is to allow your physician to select embryos predicted to be free of a specific genetic condition or chromosome abnormalities for transfer.

vector

vehicles designed to deliver therapeutic genetic material, such as a working gene, directly into a cell.