From public health genomics to precision public health: a 20-year journey

December 14, 2017
Muin J khoury, M Scott Bowen, Mindy Clyne, W David Dotson, Marta L Gwinn, Ridgely Fisk Green, Katherine Kolor, Juan L Rodriguez, Anja Wulf, Wei Yu

In this paper, we review the evolution of the field of public health genomics in the United States in the past two decades. Public health genomics focuses on effective and responsible translation of genomic science into population health benefits. We discuss the relationship of the field to the core public health functions and essential services, review its evidentiary foundation, and provide examples of current US public health priorities and applications. We cite examples of publications to illustrate how Genetics in Medicine reflected the evolution of the field. We also reflect on how public-health genomics is contributing to the emergence of “precision public health” with near-term opportunities offered by the US Precision Medicine (AllofUs) Initiative.

First-Ever Gene Therapy for Babies with "Bubble Boy" Disease

December 11, 2017
Kara Marker

There is a genetic disorder affecting the immune system so severely that its patients often require protective isolation, hence the disease’s nickname: “Bubble Boy Disease.” Scientists know this disease as X-linked severe combined immunodeficiency disorder (XSCID). From the St. Jude Children’s Research Hospital, scientists conduct the first-ever clinical trial in infants with XSCID to test the effectiveness of the newest gene therapy approach to treating the disease.

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

November 2, 2017

Richard S. Finkel, M.D., Eugenio Mercuri, M.D., Ph.D., Basil T. Darras, M.D., Anne M. Connolly, M.D., Nancy L. Kuntz, M.D., Janbernd Kirschner, M.D., Claudia A. Chiriboga, M.D., M.P.H., Kayoko Saito, M.D., Ph.D., Laurent Servais, M.D., Ph.D., Eduardo Tizzano, M.D., Ph.D., Haluk Topaloglu, M.D., Már Tulinius, M.D., Ph.D., Jacqueline Montes, P.T., Ed.D., N.C.S., Allan M. Glanzman, P.T., D.P.T., P.C.S., Kathie Bishop, Ph.D., Z. John Zhong, Ph.D., Sarah Gheuens, M.D., Ph.D., C. Frank Bennett, Ph.D., Eugene Schneider, M.D., Wildon Farwell, M.D., M.P.H., and Darryl C. De Vivo, M.D., for the ENDEAR Study Group*

Nusinersen is an antisense oligonucleotide drug that modifies pre–messenger RNA splicing of the SMN2 gene and thus promotes increased production of full-length SMN protein. This article describes a randomized, double-blind, sham-controlled, phase 3 efficacy and safety trial of nusinersen in infants with spinal muscular atrophy.

A Molecular Switch to Control Gene Expression

October 19, 2017
Carmen Leitch

Our genome contains thousands of genes, each of which has to be turned on and off at precisely the right times, or serious dysfunction in our bodies can result. If scientists could learn how to control when a gene is expressed or not, then it would be easier to relieve many human diseases. While there are a number of ways that have been developed and are being tested or such applications, new work is pursuing another avenue for the manipulation of gene expression.