Publications & News

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Posted By: HGG Advances HGGA: what motivated you to start working on this project? TN: I have been involved in several BRCA1-related projects and what has always driven me is the clinical consequences of identifying carriers of BRCA1 germline pathogenic variants. These individuals are at substantially higher risk of developing breast and ovarian cancer than... Read More

The fall U.S. legislative season will be a busy one and ASHG will be calling on U.S. ASHG members to contact their members of Congress to support and protect funding for the National Institutes of Health. Here is what you need to know – and how and when ASHG may ask for your active engagement. ... Read More

Posted By: HGG Advances HGGA: What motivated you to start working on this project?  NG: Although monogenic genetic disorders are individually rare, collectively they affect up to 1 in 20 people in the global population. Over 700 monogenic disorders—including many inherited metabolic disorders, which I study and treat clinically—now have targeted treatments. As more therapies... Read More

Posted By: HGG Advances HGGA: What motivated you to start working on this project?  ML: I was serendipitously connected with my mentor who has been working in this space for many years. When I started my postdoc, which was a step change from the work I had done in my PhD, it was the first... Read More