National DNA Day was created to commemorate the completion of the Human Genome Project in April of 2003 and the discovery of the double helix in 1953. Its goal is to celebrate and educate the public on past and current advancements in the field of genetics and genomics. Over the last century, some of science's most significant breakthroughs have come within these fields. In the 20th Century alone, the leap was made from Sir Archibald Edward Garrod's initial discovery of recessive inheritance in humans in 1902 to the aforementioned Human Genome Project. The work of decades and centuries past has set the table for what can only be described as truly remarkable medicine.
As we look forward to DNA Day on Wednesday, April 25th, we thought it would be appropriate to highlight some of the past and present works in the fields of genetics and genomics. These truly are exciting times as we are hopeful that some of the most difficult medical puzzles of all time are beginning to be solved thanks to the continued contributions in this field. The Human Genome Project (HGP) The National Human Genome Research Institute has compiled numerous resources documenting one of science's greatest achievements. The Human Genome Project's goal was to sequence and map the genome of Homo sapiens. It was completed in 2003 and is considered the proverbial blueprint for human beings. Click here to read more about more about the Human Genome Project. The Year of Gene Therapy The MIT Technology Review coined 2017 "The Year of Gene-Therapy Breakthroughs". Click here to read their article noting advancements made toward cures for sickle-cell disease, cancer treatments, and, as we have previously noted, the approval for the gene therapy drug Luxturna which was the first FDA approved gene therapy for an eye disorder. If you'd like more information on Luxturna, click here to read our piece from last October. You can also click here to read about the FDA's approval of the first gene therapy in the United States. Luxturna has not only been approved by the FDA, but has also been applied clinically! Click here to read about the 13-year-old boy who was the first patient to receive the drug. The first adult patient to receive Luxturna was Toby Willis of Seattle. Click here to read his story in the Seattle Times. Closer to Home Dr. Rod Nowakowski serves as the director of VisionAmerica's Genetic Eye Center and has helped pioneer the state's efforts in genetic testing for ocular disorders. In 2017 we were able to hear some incredible stories from patients who had personally experienced the benefits of genetic testing. While the cures for many of these diseases have yet to come to fruition, being able to pinpoint the genetic mutations that cause them is a huge step. Click here to read about a patient who, thanks to genetic testing, finally received a diagnosis after 57 years of uncertainty. We were also thankful to be able to interview Carlyn Markos who shared the story of learning her son Rodney's diagnosis of achromatopsia. Her story is a glimpse into the impact genetic testing can have on both patients and their families. Click here to read our interview with Mrs. Markos. If you have patients you feel may need genetic testing or questions related to this topic, please don't hesitate to reach out to our office. We would love to help!
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AuthorThe staff and doctors at VisionAmerica are committed to providing relevant information for you, your patients and your practice. We hope you find the information in our blog post helpful. Archives
August 2019
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