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Rady Children's Institute for Genomic Medicine Scientific Advisory Board

The Rady Children's Institute for Genomic Medicine has named six individuals to its inaugural scientific advisory board. They are:

  • James Downing, president and CEO, St. Jude's Children's Research Hospital
  • Elizabeth Blackburn, president, Salk Institute for Biological Studies
  • George Church, professor, Wyss Institute at Harvard University
  • Cato Laurencin, university professor and distiguished professor, University of Connecticut
  • Thomas Insel, former director, National Institute of Mental Health at the National Institutes of Health; former director of mental health research, Verily Life Sciences; and currernt president, Mindstrong Health
  • Isaac Kohane, professor and chair of biomedical informatics, Harvard Medical School; and professor of pediatrics, Boston Children's Hospital
The Scan

Myotonic Dystrophy Repeat Detected in Family Genome Sequencing Analysis

While sequencing individuals from a multi-generation family, researchers identified a myotonic dystrophy type 2-related short tandem repeat in the European Journal of Human Genetics.

TB Resistance Insights Gleaned From Genome Sequence, Antimicrobial Response Assays

Researchers in PLOS Biology explore M. tuberculosis resistance with a combination of sequencing and assays looking at the minimum inhibitory concentrations of 13 drugs.

Mendelian Disease Genes Prioritized Using Tissue-Specific Expression Clues

Mendelian gene candidates could be flagged for further functional analyses based on tissue-specific transcriptome and proteome profiles, a new Journal of Human Genetics paper says.

Single-Cell Sequencing Points to Embryo Mosaicism

Mosaicism may affect preimplantation genetic tests for aneuploidy, a single-cell sequencing-based analysis of almost three dozen embryos in PLOS Genetics finds.