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Albinism Prezi

About albinism.

Wilford Brimley

on 4 February 2013

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Transcript of Albinism Prezi

Puria Genetics Inc. Albinism: causes, impact, and solutions The genetics of albinism Recessive alleles of genes 11q14-q21 on chromosome 11
Rare forms of albinism are dominant and can be passed from one parent to their children.
Ocular albinism, the lack of pigment in the eye, is X-linked and is therefore found more commonly in males than in females
As usual, two carrier parents may exhibit no symptoms but can still pass on albinism to their children
Two forms of albinism; one results in partial lack of melanin, another in the complete absence thereof
Testing for albinism may be accomplished through amniocentesis Symptoms and effects of albinism Pale white skin and hair regardless of age
Red or purple eyes
Crossed optic nerves due to lack of melanin to regulate eye growth and development
Scattering of light within the eye causing photophobia
Decreased visual sensitivity
Irregular rapid eye motion
Improperly formed cornea
Increased propensity for sunburn and various skin cancers
In rare cases, reduced ability to fight infection
Albinism is not in and of itself directly a cause of death Albinism and society Albinism is found at a rate of one per 17,000 in the general population, though it is most common in sub-Saharan Africa
People with albinism have often been mistreated and persecuted
In areas of East Africa, children with albinism have been killed and dismembered by witch doctors, though the practice is illegal.
Albino women are often killed because they are seen as witches
The Tanzania Albino Society (tanzaniaalbinosociety.org) helps albinos in East Africa Treatments and cures At the present time there is no cure for albinism
Treatments for associated visual problems, such as the use of dark lenses for photophobia and special glasses to improve acutity of vision, are available
Individuals with albinism need to use sunscreens at all times when outside, to protect from sunburn and later skin cancer, or may use UV-proof clothing
Genetic engineering to produce melanin is possible, but has not been attempted due to the relative non-harmful nature of the disease People with Albinism
Salif Keita, Malian singer described as the "Golden Voice of Africa"
William Archibald Spooner, Oxford don
Shaun Ross, American fashion model
Emperor Seinei, 22nd Emperor of Japan (c. 480-484 AD)
Brother Ali, hip-hop artist Albino hair is often incorporated by fishermen in the Lake Victoria region into their nets, based on the mistaken belief that they will catch more fish or find gold.
Persecution of albinos is common in East Africa and has also been observed in Zimbabwe, Swaziland, and Ghana Albinism and society (continued) Prospective genetic engineering treatment Involves use of retrovirus in order to add gene for properly formed melanin into eyes.
Therapy will involve painful injections into the eyes, but must be done at an early age in order to ensure that eye development is not compromised, and repetition every few years may become necessary.
Skin therapy, although theoretically possible, requires numerous injections at many sites and would cause excessive pain and disruption. With genetic-sequencing technology rapidly approaching a $1000 genome, genetic sequencing of all individuals alive may become a possibility
Early first-trimester fetuses whose genes reveal them as having albinism may receive genetic therapy to all cells to prevent the appearance of albinism in both the eyes and the skin
In the long run, retroviruses engineered to work on spermatocytes and oocytes may carry genes with pigmentation.
Sperm and egg cells produced from these oocytes and spermatocytes will not have the defective albino gene.
Over time, this technology may be used to eliminate all genetic diseases arising from mutation, permanently, representing a huge step forward for humanity. Ethical problems from genetic engineering Cures for genetic diseases may turn into children specifically engineered for temperament, appearance, intelligence, or looks; black-market dealers may even design children designed to be mentally impaired so that they can work as slaves unable to resist.
In the specific case of albinism, the cure for it will give parents a choice to determine the skin or eye color of their children, possibly leading to renewed conceptions of scientific racism.
Overall, society will have to realize where to draw the boundaries between acceptable and unacceptable genetic engineering of humans, but, as stated earlier, black-market dealers will likely perform such actions as designing human clones, diseased individuals, and chimeric individuals designed to contain a combination of human and animal parts.
With strong regulation of the technology from the outset, the ethical problems facing genetic engineering can be resolved rapidly so that cures can be developed. Financial analysis We are here to ask for $100,000,000 in order to run our business and search for a cure to this disease of albinism
Funding our project will require expenses both in non-personnel and personnel-related costs
Non-personnel costs:
$5,000 a month for a 10,000 sqft facility in Fremont, CA, centrally located between the Silicon Valley, UC Berkeley, and San Francisco to give a supply of talented workers.
~$2,000,000 cost for equipment (assumes replacement of all major equipment at some point), 5 sequencing machines and 35 computers
Personnel costs (per-year, includes benefits and payroll taxes):
$150,000 per geneticist for fifteen geneticists
$200,000 per doctor for five doctors
$40,000 per person for two janitors
$150,000 for one director
$100,000 per person for each owner
$60,000 per person a receptionist and two secretaries
At this rate of funding, Puria Genetics will be able to function for twenty years before creating any products
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