genetic disorders

Despite being one of the earliest recognized genetic diseases, many aspects of Huntington’s disease remain shrouded in mystery. This stems in part from our limited grasp on how our own minds work but also from the dark history of Huntington’s disease and the shame and silence that accompanied it for so long. In this episode, we attempt to bring what we know about Huntington’s disease into the light, to talk frankly about the characteristics and progression of this hereditary disease, the role of eugenics in creating and promoting the stigma surrounding it, the ethical considerations surrounding genetic testing, and the medical and scientific advancements that give us reason to hope. And we are so grateful to the provider of our firsthand account for sharing their perspective on what it’s like to be diagnosed with this disease. Tune in for all this and more. Learn more about your ad choices. Visit megaphone.fm/adchoices

Neglected and ignored by the medical establishment throughout most of its history, sickle cell disease remains one of the most common (and commonly misunderstood) genetic conditions in the world. In this episode, we break down the myriad effects that one nucleotide substitution can have on the human body and discuss the basics of what it means when blood cells sickle. Continuing with the theme of the seen and unseen, we then turn to the history of sickle cell disease, a history of long-standing injustice and the unending fight to raise awareness and provide support for those impacted by the condition. And as always, we wrap up with a discussion on the current global status of sickle cell disease and some exciting new treatment options on the horizon.  We are so honored and thrilled to be joined this episode by not one, not two, but three incredible guests! You’ll hear first from Marsha Howe and Sharif Tusuubira, who share with us some of their firsthand experiences living with sickle cell disease. And then in our current status section, Dr. Megan Hochstrasser from the Innovative Genomics Institute walks us through the mind-blowing genome editing approaches being used to treat genetic conditions such as sickle cell disease. You can follow Marsha on her website for her non-profit organization and blog “My Life With Sickle Cell” as well as through her social media channels: Twitter: @MarshaMLWSC, Instagram: @marsha_h181, Facebook: Marsha Howe. And make sure to check out B Positive Choir too! Twitter: @bpositivechoir and Instagram: @bpositivechoir. Learn more about Sharif Tusuubira’s amazing advocacy efforts on his website and through his social media channels: Twitter: @tkksharif, Instagram: @tkksharif, Facebook: Sharif Kiragga Tusuubira. You can also watch his 2017 talk in Washington, DC as a Mandela Washington Fellow. And to learn more about the futuristic-sounding research being done at the Innovative Genomics Institute (including using CRISPR to develop a faster, cheaper coronavirus test!), you can follow Megan (@thecrispress) and IGI (@igisci) on Twitter, or head to their website. Learn more about your ad choices. Visit megaphone.fm/adchoices

Gene therapy has helped a 9-year-old boy regain enough muscle strength to run. If successful in others, it could change the lives of thousands of children with Duchenne muscular dystrophy. NPR's Jon Hamilton tells us about Conner and his family...and one of the scientists who helped develop the treatment, a pioneer in the field of gene therapy.

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