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❶Because melanosomes are so small, Oancea and Bellono had to begin their study of the OCA2 protein and its mutant forms in organelle cousins of the melanosome, such as the endolysosome, because those can be made large enough for patch clamping.

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Adults with Albinism – You’re invited…

Now they've found a brake. For scientists, the finding deepens not only the basic understanding of how eyes, skin and hair gain color, but also what perhaps can be done in disorders, such as albinism, when that doesn't happen. A drug already used safely to treat Parkinson's disease, restless leg syndrome and other movement disorders also could delay or prevent the most common cause of blindness affecting more than 9 million older Americans - age-related macular degeneration AMD.

A hereditary condition called Hermansky-Pudlak syndrome HPS can cause bleeding problems, low vision, albinism and, in some patients, a debilitating lung disease. Newly published research provides the first demonstration of how a genetic mutation associated with a common form of albinism leads to the lack of melanin pigments that characterizes the condition.

The causes and prevalence of blindness in children vary markedly by geography, presumably as a proxy for socioeconomic factors influencing prevention and treatment schemes, conclude the authors of a literature review.

The zebrafish is a potential tool for testing one class of unique individual genetic differences found in humans, and may yield information helpful for the emerging field of personalized medicine, according to a team led by Penn State College of Medicine scientists. The differences, or mutations, in question create minor changes in amino acids -- the building blocks of DNA -- from person to person. Tell-tale signs of a condition that can blind premature babies are being seen for the first time using a new handheld device in a study at Duke University Medical Center.

A team at the University of Copenhagen have tracked down a genetic mutation which took place , years ago and is the cause of the eye colour of all blue-eyed humans alive on the planet today.

It seems that the genes of Zebrafish have much in common with humans' and scientists believe that studying the fish may help solve the mystery of human skin colour. With help from a common aquarium pet and a recently released online database of human genetic variation, a collaborative team of Penn State researchers has found what could be the most important skin color gene identified to date.

An interview with Dr. Steven Simpson, MD, discussing the importance of raising awareness of the signs and symptoms of sepsis, and how Sepsis Alliance is helping to reduce the number of deaths caused by sepsis in the USA. Paul Tesar from the Tesar Laboratory at Case Western University, Ohio, discusses the importance of organoids in biological research and the development of organoids which are capable of simulating the early stages of human myelin.

George Tetz discusses the discovery of prion-like domains in eukaryotic viruses, and the implications of this study on gene therapies and common neurological diseases such as Alzheimer's Disease. By continuing to browse or by clicking "Accept All Cookies," you agree to the storing of first and third-party cookies on your device to enhance site navigation, analyze site usage, and assist in our marketing efforts. But to truly understand the role of OCA2 and the VI mutation in albinism, the researchers needed to look directly at melanosomes.

They were able to turn to helpful colleagues. Co-author Michael Marks at the University of Pennsylvania introduced them to a line of mutant mouse skin cells that had unusually large melanosomes.

Anita Zimmerman, professor of medical science who works down the hall at Brown University, tipped them off that bullfrogs happen to have especially large melanosomes in their retinas. Patch clamp experiments with those large melanosomes confirmed the role of the VI mutation in the failure of chloride ion channels. First, they compared chloride currents in normal melanosomes and ones in which they used interference RNA a method of blocking gene expression targeted to prevent OCA2 production.

They found that the melanosomes without OCA2 produced much less current and much less melanin. Skip to main content. More Biological science Marcos Rodriguez: And that complexity increases nearer the Patients with hyperpigmentation, a medical disorder that leads to darkening or increase in the natural color of the skin, are more likely to use sunscreen but do not use other protection mea Individuals with oculocutaneous albinism, type 1 OCA1 have white hair, very pale skin, and light-colored irises because they have none, or very little, of the pigment melanin in their skin Treading with fear as he walks down a street in northern Tanzania, Alfred Kapole knows that his legs, arms, skin, tongue and hair are worth thousands of dollars to local witch doctors.

Albinos in Burundi are being targeted by killer gangs as well as organ traders and are fleeing these people in large numbers. Albino Richard Ciza was alerted by neighbours last week th Albinism or hypopigmentation is a genetic disorder characterized by the complete or partial absence of pigment called melanin in the skin, hair and eyes.

There is no known way to prevent albinism or hypopigmentation. The two most common skin disorders are hyperpigmentation skin darkening and hypopigmentation skin lightening. The quantity and activity of melanocytes is the major determinant of these disorders. Strabismus or squint is a failure of the two eyes to maintain proper alignment when looking at an object. It is also called crossed eyes. Astigmatism is a refractive error of the eye, which causes blurred or distorted vision.

Astigmatism is one of the most common vision problems. Drugs Used to Treat Skin Cancer.

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A team led by Brown University biologists has discovered the way in which a specific genetic mutation appears to lead to the lack of melanin production underlying a form of albinism.

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Information about current research studies and opportunities on many aspects and types of albinism.

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May 24,  · Albinism is a group of inherited disorders that results in little or no production of the pigment melanin, which determines the color of the skin, hair and eyes. Melanin also plays a role in the development of certain optical nerves, so all forms of albinism cause problems with the development and function of the eyes. Latest news and research breakthroughs on Albinism. Last updated on Jan 24, with over 8 News and research items available on the subject. Freely Download - 'Albinism News Widget'.

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Researchers Identify Second Gene That Causes Ocular Albinism The quest for better understanding and finding cures for ocular albinism is closer to fruition, thanks to the recent discovery of mutations in a second gene . Medical research for Albinism including cure research, prevention research, diagnostic research, and basic research.