This is important for scientists and non-scientists alike. You might be surprised at how many people do not know someone who is blind or has gone through a blinding disease. You might be further surprised at how many scientists that are engaged in vision research do not really know what its like to have gone through vision loss or have similarly interacted with someone who is going blind. As I’ve said before in The Judgment Of Solomon post, “Every scientist studying vision and diseases affecting vision should have the opportunity to spend time with those who have lost sight. It is important for people in the sciences to sit down and talk with those affected by the disease they study.”
The subject of this short, Mark has a cone/rod dystrophy due to a defect in the ABCA4 gene, which codes for an ATP-binding cassette transporter family. Kris Palczewski’s group has shown that these defects ultimately cause a buildup of all trans retinal in the outer segments of the photoreceptors and leads to likely oxidative damage, cell stress and photoreceptor toxicity. This photoreceptor toxicity then ultimately results in photoreceptor cell death and blindness.