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"This modular case study tells the story of Dan and Annie, a married couple of Acadian ancestry who have a genetic form of deafblindness called Usher syndrome. They live in Southwest Louisiana, home of the largest population of DeafBlind citizens in the United States. Acadian Usher syndrome is caused by an allele of the USH1C gene that came to Louisiana with the first Acadian settlers from Canada who founded today's Cajun population. This allele's single nucleotide substitution creates an erroneous splice site that produces a defective cytoskeletal protein (harmonin) of the cochlear and vestibular hair cells and retinal photoreceptors. This splice site is the target of a promising gene therapy. The case study applies and connects Mendelian inheritance, chromosomes, cell division, vision and hearing, DNA sequences, gene expression, gene therapy and population genetics to a specific gene and its movement through generations of Dan and Annie's families.  After the introduction, each of the remaining sections can be used independently either for in-class team activities or out-of-class extensions or assignments over an entire year of introductory undergraduate biology. "

Fascinating narrative science that explores the next frontier in medicine and genetics through the very personal prism of the children and families gene therapy has touched. Eight-year-old Corey Haas was nearly blind from a hereditary disorder when his sight was restored through a delicate procedure that made medical history.  Like something from a science fiction novel, doctors carefully introduced viruses bearing healing genes into Corey's eyes-a few days later, Corey could see, his sight restored by gene therapy.

A new study shows that gene editing using CRISPR/Cas9 technology can work in rhesus monkey embryos. The results, published in the current issue of Human Molecular Genetics, open the door for pursuing gene editing in nonhuman primates as models for new therapies, including pharmacological, gene-, and stem cell-based therapies, says Keith Latham, animal science professor at Michigan State University and lead author of the study.

In the study, published Monday (May 1) in Nature Biotechnology,  Luo and colleagues set their sights on two fusions genes they had previously found to be associated with prostate cancer and various forms of rapid and invasive cancer, including liver tumors. Using a modified CRISPR-Cas9 tool that creates a single- rather than double-stranded break in DNA, they targeted the chromosomal breakpoints that form these fusion genes and replaced fusion DNA with a gene encoding the enzyme HSV1-tk. This enzyme effectively kills tumor cells by converting the drug ganciclovir into its active form, which then blocks DNA synthesis and leads to cell death. (Ganciclovir is used to treat cytomegalovirus in humans.)

Researchers have for the first time used electrical pulses delivered from a cochlear implant to deliver gene therapy, thereby successfully regrowing auditory nerves. The research also heralds a possible new way of treating a range of neurological disorders, including Parkinson's disease, and psychiatric conditions such as depression through this novel way of delivering gene therapy.

Before the gene treatment, the animals experienced about five serious bleeding events a year. After receiving the novel gene therapy, though, they experienced substantially fewer bleeding events over three years, as reported in the journal Nature Communications.

In the August 1 issue of CELL, researchers from the Gene and Stem Cell Therapy Program at Sydney's Centenary Institute revealed another function of introns, or noncoding nucleotide sequences, in DNA. They reported that gene-sequencing techniques and computer analysis allowed them to demonstrate how granulocytes use noncoding DNA to regulate the activity of a group of genes that determines the cells' shape and function.

Approximately half the patients have received all the 12 doses of gene therapy or placebo given at monthly intervals. The remaining will be completing their dosing over the next few months, with the final dose in the final patient due around June.

Like humans, some golden retrievers develop Duchenne muscular dystrophy (DMD), a hereditary muscle wasting condition that begins early in life. Using gene therapy, scientists were able to restore muscle function in dogs with the disease, according to a study published today (July 25) in Nature Communications.

In a first, scientists led by Kamel Khalili, director of the Comprehensive NeuroAIDS Center at Temple University, report in the journal Gene Therapy that they have for the first time successfully eliminated HIV genes from the genomes of mice and rats infected with the virus.

2:27 video overview of gene therapy

Promising animal model work utilizing gene therapy.

Book Chapter of gene therapy, nice figure on different approaches.

start at 4:00 human genome project translation target rare diseases with gene therapy: 1)Leber's congenital amaurosis- blindness 2) congenitaal AADC deficiency- enzyme responsible for movement 3)  Muscular Dystrophy- Pompe Disease

Overview of genetic engineering and business assessment of scientific feasibility.  Good overview of past gene therapy attempts.

This video excerpt from NOVA examines the promise and realities of developing drugs designed to treat genetic disorders. The video presents the story of one patient, Michael McCarrick, whose lungs were devastated from years of suffering from cystic fibrosis. After researchers identified the gene involved in cystic fibrosis, it took decades to find ways to fortify the faulty protein responsible for the serious illness. While two drugs, including one called Kalydeco, offer a small number of patients hope that they will not have to endure a lung transplant, it may be years and several hundred million more development dollars before effective drugs are available for a wider population.

Using a patient's own stem cells, researchers have corrected the genetic alteration that causes sickle cell disease, a painful, disabling inherited blood disorder that affects mostly African-Americans. The corrected stem cells were coaxed into immature red blood cells in a test tube that then turned on a normal version of the gene

Normally, male squirrel monkeys can't distinguish between red and green hues-they're what is called color-blind in humans. The South American Saimiri genus lacks a gene that allows color-sensitive cells in the eye, called cones, to differentiate red and green from gray. To these animals, other colors, such as blue, brown and orange, appear faded. But Sam was one of two males in the experimental group of a groundbreaking 2009 ophthalmological study conducted at the Washington National Primate Research Center in Seattle. Husband-and-wife vision researchers Jay and Maureen Neitz injected a viral vector behind the retinas, the part of the eye that responds to color, of Sam and his simian lab partner, Dalton. The virus contained the genetic code in human eyes for red pigment, giving the monkeys an extra class of cone photoreceptor.

This case study follows a young cystic fibrosis (CF) patient named Lucas. Through Lucas's story and interactions between his parents and pediatrician, students learn about the scientific background and basis of CF. By reviewing email correspondence between Lucas's parents and various doctors, students gain an overview of CF research. CF has become a model disease in certain undergraduate biology classrooms due to its relatively clear mechanism and genetic basis. This case asks students to come up with their own ideas to improve on an existing line of research - gene therapy - in treating CF. During the process, students will gain a better appreciation of the innovative nature of science and develop research skills such as finding, understanding and analyzing primary literature. The activity was originally designed for first- and second-year students as part of an extracurricular case competition, but may be used for any undergraduate biology level. The case assumes basic (high school level) knowledge of genetics, biochemistry, cell biology and physiology.

2:44 video using factory analogy for vision loss