Albinism News and Research

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Albinism is a condition marked by reduced production of melanin, the pigment that provides color to the hair, skin, and eyes of an individual. It is an inherited condition with the signs present from the birth of an infant.

Researchers elucidate first 3D structure of regulator protein complex

Proteins are indispensable components in living organisms. They are not only "building material" for the body – they also make molecular communication between cells possible, they are needed for nerve impulses to occur, and they control chemical reactions.

2 Feb 2022

First patient-derived stem cell model developed for studying oculocutaneous albinism

Researchers at the National Eye Institute have developed the first patient-derived stem cell model for studying eye conditions related to oculocutaneous albinism (OCA).

11 Jan 2022

Children with disabilities face special back-to-school challenges

Christopher Manzo, a boy with curly brown hair and bright-blue-and-yellow glasses, has lived a third of his five years at home because of the pandemic.

19 Oct 2021

Novel technique enables 3D visualization of cells containing melanin pigment

To understand the biological underpinnings of skin and hair pigmentation and related diseases such as albinism or melanoma, scientists and doctors need quantitative, three-dimensional information about the architecture, content and location of pigment cells. Penn State College of Medicine researchers have developed a new technique that allows scientists to visualize every cell containing melanin pigment in 3D, in whole zebrafish.

6 Oct 2021

Study uncovers 50 new genes for eye color

The genetics of human eye color is much more complex than previously thought, according to a new study published today.

11 Mar 2021

People with one albinism gene mutation may be prone to pale-colored melanomas

People with pale-colored melanomas are more likely to have a gene mutation associated with albinism, University of Queensland research has found.

25 Sep 2020

Boehringer Ingelheim steps up to fight COVID-19 with Global Support Program

Boehringer Ingelheim has significantly stepped up its support to the fight against Covid-19. A Global Support Program has been set up to bring more financial relief, protective materials and medicine donations to healthcare institutions and communities in need around the world.

From Boehringer Ingelheim International GmbH 9 Apr 2020

Study identifies dozens of genetic mutations linked to albinism in ‘knockout’ mice

Albinism is the best-known of a group of rare genetic disorders that can affect both eyes and skin. Some genes have been identified that are linked to these conditions, but many remain mysterious.

2 Aug 2019

A member of light-sensitive protein family plays role in adjusting skin color

A team of Brown University researchers found that opsin 3 -- a protein closely related to rhodopsin, the protein that enables low-light vision -- has a role in adjusting the amount of pigment produced in human skin, a determinant of skin color.

18 May 2019

Scientists successfully create melanocyte precursor cells using stem cell technology

Our hair, skin and eyes are colored by a pigment called melanin, which is produced by pigment cells called melanocytes. Scientists have used stem cell technology to successfully create melanocyte precursor cells.

10 May 2019

Drug increases melanin production in some people with albinism

A small pilot clinical study at the National Eye Institute suggests that the drug nitisinone increases melanin production in some people with oculocutaneous albinism type 1B, a rare genetic disease that causes pale skin and hair and poor vision.

21 Feb 2019

New booklet could help improve conditions of young pupils with albinism

A booklet, in Swahili and English, could help teachers in Tanzania improve conditions for pupils with albinism in their schools.

7 Dec 2018

Experts identify emerging frontiers in skin cancer and pigment diseases

In a Pigment Cell & Melanoma Research article, world-leading experts identify emerging frontiers in skin cancer and pigment diseases.

3 Oct 2018

FDA approves first stand-alone prosthetic iris in the U.S.

The U.S. Food and Drug Administration today approved the first stand-alone prosthetic iris in the United States, a surgically implanted device to treat adults and children whose iris (the colored part of the eye around the pupil) is completely missing or damaged due to a congenital condition called aniridia or other damage to the eye.

30 May 2018

Study explores periodontal status of patients with Chédiak-Higashi syndrome

The International and American Associations for Dental Research have published an article titled "Periodontitis in Chédiak-Higashi Syndrome: An Altered Immunoinflammatory Response" in the JDR Clinical & Translational Research.

31 Aug 2017

Loyola Medicine participates in major study of rare lung disease that affects Puerto Ricans

Loyola Medicine is enrolling patients in the first major study of a rare, debilitating lung disease that disproportionately affects people from Puerto Rico.

7 Jul 2017

Breakthrough study opens door to design of whitening compounds for removing skin discolorations

Spots resulting from too much sun exposure and other effects of dysfunctional melanin production may become a thing of the past.

5 Jul 2017

People with albinism suffer severe discrimination and social stigmatization, study reveals

People with albinism face major health problems, including skin cancer, involuntary eye movements, and poor eyesight.

23 Aug 2016

Study finds that TPC2 protein regulates melanin production

A year and a half ago, researchers at Brown University found a molecular gas pedal for melanin production. 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.

27 May 2016

L-DOPA drug may delay or prevent age-related macular degeneration

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).

10 Nov 2015