Medical Genetics and Behavioral Medicine Lecture Review

Vocabulary-style flashcards covering early-onset Alzheimer's, gene therapy mechanisms, behavioral health criteria, and specific genetic disorders including Marfan Syndrome and Neurofibromatosis.

Early-onset Alzheimer's Disease

A form of Alzheimer's where symptoms start before age $65$ and is caused by mutations in chromosomes $1$, $14$, and $21$.

Vector

A gene delivery vehicle or carrier molecule used to deliver a therapeutic gene to a patient's target cells, such as an adenovirus.

Homologous recombination

A gene therapy technique where an abnormal gene is exchanged for a normal gene.

Anhedonia

The loss of interest or pleasure, which is a required criterion for the diagnosis of a depressive episode.

General Anxiety Disorder (GAD)

A condition characterized by excessive anxiety or worry on more days than not for a duration of at least $6$ months.

Pharmacogenomics

The study of how an individual's genes affect their response to drugs.

Hereditary Hemochromatosis

An autosomal recessive disorder commonly caused by a mutation in the $HFE$ gene that results in increased intestinal absorption of iron and organ deposits.

Therapeutic phlebotomy

A management procedure involving the removal of a portion of blood for symptomatic patients with iron overload or asymptomatic patients with high ferritin levels.

Osteogenesis Imperfecta

A group of genetic disorders resulting from mutations in collagen type $I$, causing weak connective tissue, blue sclera, and progressive hearing loss.

Familial Hypercholesterolemia (FH)

A condition affecting $1/500$ people characterized by high cholesterol and $LDL$ levels, tendinous xanthomata, and premature coronary heart disease.

Marfan Syndrome

A connective tissue disorder that can cause aortic dilation or dissection at the level of the sinuses of Valsalva; patients must avoid contact sports, isometric exercise, caffeine, and decongestants.

Implantable Cardioverter Defib (ICD)

The primary treatment method for Hereditary Cardiomyopathies such as $HCM$ and $ARD/C$ to prevent sudden cardiac death.

Neurofibroma

A benign encapsulated tumor that results from Schwann Cells.

Neurofibromatosis Type 1 (NF1)

The most common form of NF, manifesting as tumors of subcutaneous tissue, optic nerve gliomas, and Cafe au Lait spots.

Cafe au lait spots

Hyperpigmented lesions that develop during the first $3$ years of life; spots larger than $0.5\,cm$ in children aged $5-12$ suggest a diagnosis of Neurofibromatosis.

Schwannomas

Tumors that develop in the auditory and vestibular nerves, characteristic of Neurofibromatosis Type $2$, which usually manifest in late adolescence.

Selective reverse mutation

A gene therapy process that repairs a gene by returning it to its normal function.

Adenovirus vector challenges

Issues including short life spans requiring re-administration and the stimulation of a host immune response with repeated exposure.