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Alan Guttmacher, Elke Jordan


The NHGRI has appointed Alan Guttmacher as its second deputy director, replacing Elke Jordan, who announced her plans for retirement last spring. Guttmacher joined NHGRI in 1999 as the senior clinical advisor to the director and will retain that title until a replacement is found. In the role of deputy director, Guttmacher will help integrate genomics into medical practice, support development of new research tools to translate the findings of the Human Genome Project into diagnostic tests and therapies, and will oversee strategic planning for the institute. Gutt-macher is also the acting director of the NHGRI Office of Policy, Planning and Communications.

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The Scan

Expanded Genetic Testing Uncovers Hereditary Cancer Risk in Significant Subset of Cancer Patients

In Genome Medicine, researchers found pathogenic or likely pathogenic hereditary cancer risk variants in close to 17 percent of the 17,523 patients profiled with expanded germline genetic testing.

Mitochondrial Replacement Therapy Embryos Appear Largely Normal in Single-Cell 'Omics Analyses

Embryos produced with spindle transfer-based mitochondrial replacement had delayed demethylation, but typical aneuploidy and transcriptome features in a PLOS Biology study.

Cancer Patients Report Quality of Life Benefits for Immune Checkpoint Inhibitors

Immune checkpoint inhibitor immunotherapy was linked in JAMA Network Open to enhanced quality of life compared to other treatment types in cancer patients.

Researchers Compare WGS, Exome Sequencing-Based Mendelian Disease Diagnosis

Investigators find a diagnostic edge for whole-genome sequencing, while highlighting the cost advantages and improving diagnostic rate of exome sequencing in EJHG.