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Pronatalism Blog (11)

The Rebirth of Eugenics: Tech Bros and Pronatalism

Pronatalism Blog (10)

The Rebirth of Eugenics: Tech Bros and Pronatalism

Pronatalism Blog (9)

The Rebirth of Eugenics: Tech Bros and Pronatalism

Vosoritide Blog (9)

Pharma’s Role in Practice Guideline Development: Achondroplasia as a Case Study

Photo of protesters in front of a Capitol building holding signs that read "SAVE MEDICAID"

Join Patients in the Fight to Save Medicaid and Social Services

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Causation versus Susceptibility: Alzheimer’s Disease, Genetics, & APOE

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Pharma’s Role in Practice Guideline Development: Achondroplasia as a Case Study

By Andrea Schelhaas, Stephanie Meredith and Katie Stoll In November 2021 under the Accelerated Approval Program, the U.S. Food and Drug Administration announced approval of Voxzogo (vosoritide), a drug developed by BioMarin for the purpose of increasing linear growth in children with achondroplasia with open growth plates (individuals who are actively growing). Achondroplasia is the …

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Photo of protesters in front of a Capitol building holding signs that read "SAVE MEDICAID"

Join Patients in the Fight to Save Medicaid and Social Services

This article is written by Dr. Stephanie Meredith, the Development Director at Genetic Support Foundation and the Supervisor of our Lettercase National Center for Prenatal and Postnatal Resources. She is also the mother of a young man with Down syndrome and has worked in disability advocacy for nearly 25 years. The past two weeks have …

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Causation versus Susceptibility: Alzheimer’s Disease, Genetics, & APOE

By Chase Beeler, Rachel Westman, and Devin Shuman New Developments A recent study published in Nature Medicine, and a follow up article in the New York Times, has added to and challenged our understanding of the genetics of Alzheimer’s Disease. Based on the data analyzed, this study is claiming that a specific variant in the …

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Silhouettes of 44 people encircle the text, “Updated 23andMe test still misses moist people with BRCA1/2 hereditary cancer risks”. About 1 in 4 of the people are colored in red and the rest are colored in pink. The pink silhouette is intended to represent people who carry a BRCA1 or BRCA2 pathogenic variant that would be missed by the 23andMe test.

The Value of Knowledge and the Cost of False Reassurance: Understanding the Updates to 23andMe’s BRCA Genetic Testing

The recent update to 23andMe’s DTC test in September 2023 expanded their BRCA1/2 analysis to detect a total of 44 specific variants, including those evaluated previously1. This certainly will increase the detection of genetic variants in the BRCA1 and BRCA2 genes for individuals beyond those who are of Ashkenazi Jewish ancestry. However, given that there are thousands of genetic variants in these two genes that are associated with hereditary cancer risks, it is important to recognize that the updated 23andMe test will still miss the majority of people with BRCA-associated hereditary cancer risks.  

BRCA2 on the TODAY Show: Jill Martin’s Story

Photo credit Jill Martin Instagram A couple weeks ago, I received a message in a group text chat with friends and patient advocates. Janet wrote, “Jill Martin is sharing our message of inheriting mutations from our fathers!” Her sister Eileen shared, “I just watched it. It really touches home.” Jill Martin, lifestyle contributor of the …

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