Areas of Focus

wAMD

Wet age-related macular degeneration (wAMD) is an advanced form of AMD where blood vessels begin to invade the cellular space between layers of cells in the retina…

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A1AT Deficiency

Alpha-1 antitrypsin deficiency (A1AT) is a rare genetic disorder where deficiency in A1AT may result in serious respiratory disease in adults and /or liver disease...

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HAE

Hereditary angioedema is a life threatening genetic condition based on a lack of the C1-esterase inhibitor (C1-INH), resulting in excessive levels of a protein called bradykin which causes blood vessels to dilate...

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FA

Friedreich’s Ataxia (FA) is a rare genetic disease that affects 10,000 to 20,000 people in the US and Europe. An early symptom is loss of control of body movements (ataxia)...

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Severe Allergy

Severe allergy represents a public health issue and can often cause extreme discomfort and in some cases fatalities...

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Color Vision Deficiency

Color blindness, also called color vision deficiency, affects more than 10 million people in the United States alone…

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XLRS

Juvenile X-linked Retinoschisis (XLRS) is an inherited retinal disease that occurs almost exclusively in males and is caused by mutations in the RS1 gene located on the X chromosome...

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