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genetic mutation

Landmark Advancement in Cystic Fibrosis Therapy

Posts Tagged ‘genetic mutation’

Landmark Advancement in Cystic Fibrosis Therapy

The Cystic Fibrosis (CF) community celebrates a landmark achievement this fall. For the first time, a highly effective medication is available to treat the underlying cause of CF for 90% of people with this life-threatening genetic disease. CF causes frequent lung infections, progressive lung disease, and malnutrition due to abnormally thick mucus in the lungs…

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My Gene Counsel Releases New Reports on 23andMe Findings

My Gene Counsel, a digital health company that provides personalized, easy-to-understand web-based genetic counseling, today announced that the company has expanded its database of genetic resources to include content for at-home genetic tests related to MUTYH-associated polyposis (MAP), familial hypercholesterolemia (FH), and Parkinson’s disease.

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My Gene Counsel Offers Personalized Genetic Counseling Reports for Those with Positive Alzheimer’s Gene Test Result

My Gene Counsel, a digital health company that provides personalized, easy-to-understand web-based genetic counseling, today announced that the company has expanded its content to include reports for those who test positive for a variant in the APOE gene through 23andMe’s consumer DNA testing. The expansion is another step in My Gene Counsel’s goal to service…

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Podcast: No Stomach For Cancer

In this podcast episode, Ellen interviews Johanna, who speaks about her and her family’s experience with gastric cancer, genetic testing and prophylactic surgeries. Johanna was 26 when she had her stomach prophylactically removed. She shares her decision making process and what the experience was like post-surgery. Johanna originally sought out genetic counseling due to her…

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Beyond BRCA: Gardner's Syndrome (FAP)

This is the second in a series of articles built to highlight rare hereditary cancer syndromes. This is Elizabeth’s story of living with FAP, also known as Gardner’s Syndrome. Genetic Counseling Note: There are several hereditary cancer syndromes that can cause affected individuals to develop multiple polyps in their gastrointestinal (GI) tracts. One of these…

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