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NOAH Research Program

Support the NOAH Research Program ~ Inaugural Research Grants Awarded ~ Meet the Research Grant Awardees ~ Call For Proposals
Other Albinism Research

NOAH Research Program!

We are excited to announce the launching of the inaugural NOAH Research Program!

Since its inception, NOAH has maintained a connection to research. Dr. Carl Witkop, one of NOAH’s founders, was a renowned international albinism researcher. NOAH has always had a Board of Scientific Advisors, and NOAH’s conferences have included presentations by top scientists in albinism research. Although NOAH has regularly shared research information with its community and written letters of support for research grant applications, NOAH has never before–until today–had a formal research program that supports and funds new research in albinism.

Our Commitment

NOAH will become a leading voice in albinism research through the work of its Research Program. Funded research will be patient-centered and will help develop a greater understanding of albinism. The Research Program can support this commitment in two ways: 1) funding impactful research and 2) building a community of top-notch researchers who are engaged with the albinism community. To support these goals, the Research Program will use a scientific peer-review process to identify methodologically rigorous research proposals that have the potential to improve the lives of those affected by albinism. This is an opportunity not just to fund albinism research, but also to shape research to answer questions most important to people with albinism like, “Am I at a higher risk of cataracts?” “Should my child get nystagmus surgery?”.

Excited?!

We are too! The success of this Research Program relies on the support of our community. If you are interested in supporting the NOAH Research Program, consider making a gift:


Inaugural Research Grants Awarded

NOAH is pleased to announce the award of research grants totaling $125,000, presented to three institutions conducting albinism research. This funding is provided through the NOAH Research Program, established in 2021, to support and fund patient-centered research that leads to developing a greater understanding of albinism…

Check out the full press release!


Meet the Research Grant Awardees!

2022 NOAH Established Researcher Program Grant Award ($50,000)

Institution:
Columbia University (New York, USA)

Principal Investigator:
Carol Ann Mason, Ph.D.
Professor of Pathology and Cell Biology, Neuroscience, and Ophthalmology, Mortimer B. Zuckerman Mind Brain Behavior Institute

Collaborator:
Dr. Nefeli Slavi, Ph.D.
Columbia University
Postdoctoral Research Scientist

Research Project Summary:
Our work aims to reveal the causes of altered connections between the albino retina and the brain, which ultimately lead to poor stereo vision. We are exploring the hypothesis that certain inflammatory signals are transferred from the hypopigmented RPE to the retina, where they interfere with cell division and production of neurons. As a result, some retinal neurons are born with delays and lack the properties to project correctly to the brain.

2022 NOAH Established Researcher Program Grant Award ($50,000)

Institution:
University of Bordeaux (Bordeaux, France)

Principal Investigator:
Benoit Arveiler, PharmD, PhD
Professor University of Bordeaux – Practitioner Bordeaux University Hospital (France)

Key Personnel:
JAVERZAT Sophie, Pr. , PhD
MRGM INSERM U1211 Bordeaux, France
Co-head of project

MICHAUD Vincent, M.D.
MRGM INSERM U1211 Bordeaux, France
PhD student

TINGAUD-SEQUEIRA Angèle, PhD
MRGM INSERM U1211 Bordeaux, France
Engineer

KALATZIS Vasiliki, Dr., PhD
INM INSERM U1298 Montpellier, France
Key collaborator

Research Project Summary:
Not all patients with albinism have the same clinical profile due to genetic heterogeneity. We have recently identified a new gene for oculocutaneous albinism (OCA8) in patients with intriguing characteristics. The project aims to explore different cellular and developmental models of OCA8 compared to the major type (OCA1) in order to better understand the genesis of ocular pathology at the molecular level. This work should guide therapeutic strategies to prevent retinal defects in all patients with albinism.

2022 NOAH Pilot Grant / New Innovations Program Grant Award ($25,000)

Institution:
University of Pittsburgh (Pennsylvania, USA)

Principal Investigator:
Leah Byrne, PhD
Assistant Professor of Ophthalmology, Neurobiology and Bioengineering, University of Pittsburgh

Collaborators:
Alessandra Larimer-Picciani, BA
University of Pittsburgh, Department of Ophthalmology
Role on project: Medical student researcher

Wyatt Kriebel (undergrad)
University of Pittsburgh, Department of Ophthalmology
Role on project: Student researcher

Research Project Summary:
Oculocutaneous albinism type 1 (OCA1) results from mutations in the tyrosinase (TYR) gene. Currently, there are no treatment options to reverse the effects of albinism, making OCA1 therapies a significant unmet clinical need. The Byrne Lab will leverage our state-of-the art viral vector pipeline to develop new gene therapies for OCA1 and investigate the molecular mechanisms underlying retinal disease in OCA1 patients. We aim to lay the foundation for new treatments that will ameliorate visual impairment in patients with OCA1.


Call For Proposals – Fall 2022

NOAH is proud to announce a request for proposals to support albinism research focusing on our research priorities listed below. Proposals focusing on research in all types of albinism will be considered. Proposals may utilize cell or animal models of albinism and/or human patients with albinism.

OUR RESEARCH PRIORITIES:

1.     Vision / visual system as it relates to albinism

2.     Dermatology as it relates to albinism

FUNDING AVAILABLE:

We expect to fund up to a total of $100,000 in grants, distributed in the following programs:

  • Established Researcher Program: $50,000 ($25,000 per year for two years)
    • Intended to provide bridge funding for or to support expansion of existing projects from established researchers
  • Pilot Grant / New Innovations Program: $25,000 ($25,000 given in one lump sum)
    • Intended to provide funding to generate pilot data for new projects from junior or established researchers

ELIGIBILITY:

Applicants must hold a Ph.D., M.D., D.M.D., D.V.M., D.O., or equivalent degree and have a faculty position or equivalent at a domestic or foreign: non-profit organization, or public or private institution, such as a university, college, medical school, hospital, research institute, or laboratory.

 Letters of intent will be reviewed for scientific quality and relevance to NOAH’s research priorities. Proposals with high translational relevance will receive priority consideration.

KEY DATES:

Monday, December 19, 2022 at 5pm eastern: LOI Form Due with Expression of Interest Video (2-3 minutes) or Written Summary (500 words maximum)

Week of January 16, 2023: Notification of selection for Full Application 

Monday, March 13, 2023 at 5pm eastern: Full Application Due

April 2023: Grants Awarded

LOI FORM


Other Albinism Research

Please note: The following information is provided for your reference. Any questions regarding an item below should be directed towards the publishing institution/author.

Do you know of an additional research study or information source for people with albinism?
Contact the NOAH Webmaster for the opportunity to have it added to this page.


Current Clinical Trials Related to Albinism:

NIH ClinicalTrials.gov


Prominent Researchers & Institutions in Albinism Research:

Brian Brooks, MD

National Eye Institute – Pediatric, Developmental & Genetic Ophthalmology

National Eye Institute – Ophthalmic Genetics & Visual Function Branch

Hermansky-Pudlak Syndrome Network (HPS Research & other updates)

University of Minnesota – Albinism Genetic Database

American Foundation for the Blind


Scientific Literature Related to Albinism:

National Library of Medicine – PubMed.gov


Other Studies Related to Albinism:

University of Iowa Hospitals & Clinics and National Advanced Driving Simulator

Bioptic Telescope Driving Study

Colleagues at the University of Iowa Hospitals & Clinics and the National Advanced Driving Simulator are looking for volunteers who are required to wear a bioptic telescope while driving to participate in a research study. The purpose of the study is to understand how drivers with visual impairments use their bioptic telescopes when they drive. The study will be conducted in two phases: a questionnaire and an on‐road driving phase. The online questionnaire will collect demographic information along with details about your visual impairments, health history, medication use, driving history & patterns, and bioptic telescope use while driving. It will take approximately 10 to 15 minutes to complete.

The information gained from the questionnaire will assist in the development of the on‐road driving phase. At the completion of the questionnaire, you will be asked if you would like to be considered for participation. If you are interested, we will collect your name and contact information. Completing this section does not obligate you to participate. Only a small sample of those who provide contact information will be contacted.

Who is eligible?
– Current valid U.S. Driver’s license
– Current license requires the use of bioptic telescope to drive

If your meet these requirements and you are interested in participating, please go to the following link to complete the questionnaire:
https://uiowa.qualtrics.com/jfe/form/SV_0PzwGjfryMJn7PT.

More information: Study Info Letter

If you have any questions or have trouble completing the questionnaire, please contact Cheryl Roe at the National Advanced Driving Simulator by email at cheryl‐roe@uiowa.edu or call 319‐335‐6803. For more information about the National Advanced Driving Simulator, please go to www.nads‐sc.uiowa.edu.

Updated: September, 2022


Access to Resources in Individuals with Albinism

Researchers at the Medical College of Wisconsin are conducting an anonymous research survey to learn more about access to genetic testing, vision care, and other resources for individuals with albinism. Respondents ages 18+, or parents/guardians of minors, who have been diagnosed with albinism, wanted for survey study.  For more information or to take the survey visit:  https://redcap.mcw.edu/surveys/?s=43XCTF43EK

Updated: June 6, 2022

Current and Potential Tele-Visual Rehabilitation & Visual Functions’ Assessment (a form of Telehealth)
survey designed by: Dr. Rasha S. Moustafa, Consultant Ophthalmologist. The Director & Consultant Head of the Low Vision & Visual Rehabilitation Units at Dar El-Oyoun and Magrabi Eye Hospitals & Centers, Egypt. And Dr. Lobna Hassan, Postdoc Researcher in Tampere University & Hanken Business School, Finland, with advice from Dr. Michael Crossland, UCL and Moorfields Eye Hospital, London, UK.

This survey looks at professionals’ experience with providing remote “Low Vision Assessment” & “Tele -Visual Rehabilitation”. We are interested in professionals who have done any or all of the following: Assessing Visual Functions (Visual Acuity, Refraction, Contrast Sensitivity, Colour Vision, Glare Sensitivity, Visual Fields), Functional Vision, QoL & various aspects needed for prescribing solutions as a part of providing visual (re)habilitation plans, and it’s follow up services e.g: low vision devices, advice, and training or early support. For this survey, the prefix “tele” means “from a distance” [not meaning telephone only], as a form of “Telehealth”, it is defined as providing services through the use of telecommunication technologies and electronic information (e.g: landlines, wireless communications, the Internet, smartphones, applications, wearable devices, VR, etc.) whether synchronously as in video or telephone-based appointments or asynchronously as in the transmission of recorded & stored digital images, videos, or text files. The surveyed professionals may be using one or more of these technologies during an appointment. This survey is for healthcare professionals such as optometrists, ophthalmologists, dispensing opticians and orthoptist, rehabilitation specialists, as well as qualified teachers of visually impaired children and young people (QTVI). It will be followed by another one for ‘Technical Support Teams’ as it evolves. This research is conducted as part of a non-profit research project & is self-funded up to date. Answering this survey is voluntary and you may stop answering it at any point. All data collected through this survey will be anonymized & kept strictly confidential. E-mail addresses asked for at the end of the survey are optional for respondents who wish to be contacted with results & further collaboration opportunities. This information will be kept separate from the other survey data. We thank you for your patience and for taking the time for filling out this survey.

If interested, please complete the survey: tinyurl.com/teleLVAsurvey
*This survey is for healthcare professionals such as optometrists, ophthalmologists, dispensing opticians and orthoptist, rehabilitation specialists, as well as qualified teachers of visually impaired children and young people (QTVI). It will be followed by another one for ‘Technical Support Teams’ as it evolves.

Recruitment ends January 31st

Contact Rasha S. Moustafa at Dr.rashasameer@gmail.com with any questions.

Updated: January 20, 2022

Survey about Driver Assistance Systems

Bioptic telescope drivers and normal vision drivers who are 18+ years are invited to participate in a survey study (project 2020P002139) about Advanced Driver Assistance Systems being conducted by researchers at Schepens Eye Research Institute, Boston, MA .

Participants must be current drivers and speak fluent English.
The survey takes about 30 minutes and will be conducted over the phone.

If interested, please contact Chrysanthi Stevens:

202-276-3231

Chrysanthi_Stevens@MEEI.HARVARD.EDU

Updated: March 19, 2021

Crandall University on Visual Impairment/Blindness in Emerging Adulthood

Self-Concept and Motivation in the Visually Impaired/Blind

Are you between the ages of 18-30 and currently living with a visual impairment?

If the answer to both of these questions is yes, your assistance is requested. “Self-Concept and Motivation in the Visually Impaired/Blind” is a qualitative study being conducted at Crandall University in Moncton, NB. This study aims to understand better the experience of having a visual impairment/blindness in emerging adulthood, specifically how it impacts the self-concept and motivation.

This study will use a qualitative interview questionnaire asking questions that pertain to the individual’s self-concept and motivation. The interviews will be conducted with participants individually. This process will be completed in person, or over video-chat and is expected to be one hour in length. Informed consent will be obtained before the beginning of the interviews, and as participation is voluntary, consent may be withdrawn at any time. Information collected for this study will include no identifiable information, such as names, or dates of birth, etc. Data will be kept on a password-protected computer, accessible only by the primary researcher.

Your participation would be much appreciated in helping make this research a success. For further questions or if interested, individuals can contact the primary researcher, Alisha Longmire at longmireali@crandalluniversity.ca or by calling 1-902-526-0458.

Updated: December 6, 2019