Study investigates the prevalence of eye disease in adults with Down syndrome

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Drs. Dimitrios Karamichos and Melissa Petersen at The College of North Texas Well being Science Heart at Fort Value, are teaming with DownSyndrome Achieves (DSA) Biobank in Ohio to seek out clues about Keratoconus Dystrophy.

Their analysis will assist higher establish people with Down syndrome who’re susceptible to the illness and whether or not this illness will be prevented with drugs.


Keratoconus is a posh, multifactorial, corneal illness that continues to be a thriller, within the context of its onset, charge of development, and underlying pathobiology.”

Dr Dimitrios Karamichos, Director of Analysis, Eye Analysis Institute, College of North Texas Well being Science Heart

“Progressive ectasia (bulging), corneal thinning, and scarring are the hallmarks of Keratoconus, recognized to have an effect on each men and women,” stated Dr. Karamichos.

Dr. Petersen is an Assistant Professor within the Division of Household Medication & Institute for Translational Analysis at HSC, and at the moment serves as a co-principal investigator.

Keratoconus Dystrophy has been on the rise.

“Prevalence has been growing steadily, going from 1:2000 within the Eighties to 1:350 within the 2000s worldwide,” stated Dr. Karamichos. “The situation seems very prevalent within the Down syndrome inhabitants, and that’s the reason this examine is so necessary.”

If left untreated, Keratoconus could cause issues with imaginative and prescient and, in extreme circumstances, require corneal transplants, stated Dr. Karamichos, a Professor of Pharmaceutical Sciences within the HSC School of Pharmacy.

Keratoconus impacts greater than 30% of individuals with Down syndrome, in contrast with lower than 1% of the final inhabitants.

Biospecimens collected by the DSA Biobank, which is situated at Cincinnati Kids’s Hospital Medical Heart (CCHMC) in Ohio, are utilized by HSC consultants to check the attention illness.

“DSA Biobank is a strong useful resource for researchers to raise the usual of take care of well being situations that co-occur with Down syndrome, together with Keratoconus,” stated DownSyndrome Achieves president and CEO, Lito Ramirez.

“The biospecimen we gather allow researchers to extend our scientific understanding of DS, and hopefully yield improved diagnostics and therapies for individuals with Down syndrome by way of years moderately than a long time,” Ramirez stated.

DownSyndrome Achieves (DSA), an Ohio-based analysis advocacy group, launched the DSA Biobank in 2015. The Biobank is a central repository for biospecimens donated by individuals with Down syndrome and their households.

“Acquiring scientific samples for analysis from people with Down syndrome has been extraordinarily difficult,” Dr. Karamichos stated. “With DSA Biobank, we now have entry to the essential samples we have to proceed our work.”

Dr. Karamichos added: “We sit up for a long-term collaboration with DSA Biobank, and extra research to return.”

Final September, Dr. Karamichos was awarded a $275,000 grant from the Nationwide Eye Institute (NEI)/Nationwide Institutes of Well being (NIH) that permits for the two-year examine of Keratoconus. The examine contains grownup sufferers with Down syndrome between the ages of 19-50. Research samples are collected longitudinally over two years, in keeping with DSA.

“Knowledge obtained from this examine might assist facilitate the event of a screening software for detecting people with Down Syndrome who’re in danger for growth of keratoconus, with the aim of defining potential enrollment into scientific trials,” Dr. Karamichos stated.

This essential work continues because the DSA Biobank expands its attain and as individuals throughout the globe proceed to carry consideration to the wants of individuals with Down syndrome.

The latter is the main target of World Down Syndrome Day, which takes place March 21.
Supply:College of North Texas Well being Science Heart

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