Today, most gene therapy studies are aimed at cancer and hereditary diseases linked to a genetic defect.

The patients had a defect in the RPE65 gene, which was replaced with a functional copy using adeno-associated virus.

( e. g. an undetectable performance-enhancing gene therapy was used by one of the characters on himself, but to avoid copyright infringement, this gene therapy was modified from the tested-to-be-harmless original, which produced a fatal cardiovascular defect )

* Shaker gene mutations cause a defect in the voltage gated ion channels, slowing down the repolarization of the cell.

Theoretically this process should be simple as the airway is easily accessible and there is only a single gene defect to correct.

Rett syndrome was initially diagnosed by clinical observation, but the diagnosis is definitive when there is a genetic defect in the MECP2 gene.

A defect in the human homologue of the Drosophila " period " gene was identified as a cause of the sleep disorder FASPS ( Familial advanced sleep phase syndrome ), underscoring the conserved nature of the molecular circadian clock through evolution.

But with the sudden demand of blue puppies many American Bully owners started inbreeding their dogs to produce more of the blue gene ; the blue is actually a genetic defect of the black genome.

A working model describes the defect in the HFE gene, where a mutation puts the intestinal absorption of iron into overdrive.

The genetic form is caused by a defect in the gene for AMP deaminase though there is also an acquired form of AMP deficiency.

Since 2009, most researchers use a different nomenclature based on the gene defect ( e. g. CDG-Ia

This gene is recessive and a female would need two X chromosomes with the defect to show typical male pattern alopecia.

The defect in the breed's myostatin gene is maintained through linebreeding and is responsible for its accelerated lean muscle growth

Axolotls are used in heart defect studies due to the presence of a mutant gene that causes heart failure in embryos.

Type 1 vWD ( 60-80 % of all vWD cases ) is a quantitative defect which is heterozygous for the defective gene.

As opposed to drug-based approaches, gene therapy repairs the underlying genetic defect.

Nonclassical gene therapy inhibits the expression of genes related to pathogenesis, or corrects a genetic defect and restores normal gene expression.

In PNH a clonal defect in blood stem cells in the gene PIGA, that is required for GPI synthesis, results in faulty GPI linkage of decay-accelerating factor ( DAF ) and CD59 in red blood cells.

* Congenital anomaly, popularly referred to as a birth defect, a disorder present at birth, the result of an inherited gene mutation, an error during morphogenesis or fetal development, or an environmental factor

Genetic contributions are usually due to the additive effects of multiple genes however occasionally may be due to a single gene defect such as in the case of familial hypercholesterolaemia.

If a mutation occurs in this gene then PIGA may be defective, which leads to a defect in the GPI anchor.

Some collie breeds ( especially the Rough Collie and the Smooth Collie ) are affected by a genetic defect, a mutation within the MDR1 gene.

Quality control emphasizes testing of products to uncover defects and reporting to management who make the decision to allow or deny product release, whereas quality assurance attempts to improve and stabilize production ( and associated processes ) to avoid, or at least minimize, issues which led to the defect ( s ) in the first place.

On the other hand, carelessness and neglect were severely punished, as in the case of the unskillful physician, if it led to loss of life or limb, his hands were cut off ; a slave had to be replaced, the loss of his eye paid for by half his value ; a veterinary surgeon who caused the death of an ox or donkey paid quarter value ; a builder whose careless workmanship caused death lost his life or paid for it by the death of his child, replaced slave or goods and in any case, had to rebuild the house or make good any damages due to defective building and repair the defect as well.

Combined with stress and overwork, and possibly the heart defect that led him to be invalided out of the coal mines, he was to suffer a massive heart attack in the early hours of 8 November 1968 at the age of 42, after a show, whilst driving back to his hotel outside Leeds.

This has led, for example, to the reconceptualisation of poverty as more a problem of the haves versus the have-nots rather than its former status as a disease, illness, or moral defect in need of treatment.

In 254, Jiang Wei, after Li Jian ( 李簡 ), the county magistrate of Didao secretly declared that he would defect, again advanced on Didao and took the city, but was hindered from a local resistance force led by Xu Zhi ( 徐質 ).

Around 1975, Israel sponsored the creation of a surrogate force, Lebanese Christian ( Melkite ) Major Saad Haddad was the first officer to defect from the Lebanese Army to ally himself with Israel., a defection which led to the formation of the pro-Israel Free Lebanon Army, based in a corridor, the " Security Zone " along Lebanon's southern border from 1982 after Israel's invasion of Lebanon.

This mass defect in the system may be simply calculated as Δm = ΔE / c < sup > 2 </ sup >, but use of this formula in such circumstances has led to the false idea that mass has been " converted " to energy.

( A defect in the implementation led to a workaround being built into the Windows operating system Aporia Bits )

In 194, as Cao Cao led a campaign against Tao Qian in Xu Province, his home base at Yan Province was suddenly attacked by Lü Bu, and two of Cao's officials, Chen Gong and Zhang Miao, chose to defect to Lü.

Goppert first described the disease in 1917, with its cause as a defect in galactose metabolism being identified by a group led by Herman Kalckar in 1956.

The above defect concerns have led to considerations of using a topcoat layer directly on top of the photoresist.

A convoluted trail led Smiley to discover a human weakness in his nemesis Karla, whom he persuaded to defect to the West in Berlin in December 1977.

The issue that led Maraj to defect was the declaration of a limited State of Emergency which sole purpose was to remove Occah Seepaul ( Maraj's sister ) as Speaker of the House of Representatives.

But I desire to take advantage of the attention which this deplorable event will attract to bring before railway companies what I conceive to be the great defect in their systems, and which has led to most of the accidents I have inquired into, viz a want of discipline and the enforcing of obedience to their own rules

Using this technique, Lillehei led the team that performed successful repair of a ventricular septal defect on March 26, 1954.

Several nations that had previously bowed to Cartann defect to the newly-formed " Adumari Union " on the strength of Wedge's reputation, and Wedge ultimately leads an air force only half as strong as Cartann's, but far better led and disciplined.

Oliver Cromwell had led an assault by the New Model Army from the south-east of Ireland, while Roger Boyle had inspired a mutiny among the English Royalist garrison in Cork, causing them to defect to the Parliamentarians.

A Civil Aeronautics Board ( CAB ) investigation determined that a manufacturing defect in the automatic pilot system led to an uncommanded rudder control system input, causing the accident.

The animosity between the two nobles parties centered on the princes P ’ arsadan Tsitsishvili and Shadiman Baratashvili on one hand, and Saakadze on the other, culminated in May 1612, when a threat to his life led Saakadze to defect to Iran.

As none of the remaining parties present in the Sejm would, or could, replace the Samoobrona in supporting Kaczyński's cabinet, PiS had to resort to convince individual Samoobrona representatives to defect from the party in order to vote in favor of the government, which led to accusations of unethical dealing on their side.

) This defect of the Ptolemaic theory led to proposed replacements by Ibn al-Shatir in the 14th century and by Copernicus in the 16th century.