Stephen Kingsmore

Dec 5, 2024 | cell.com | Stephen Kingsmore |Meredith Moriak Wright |Laurie Smith |Yupu Liang |William R. Mowrey |Liana Protopsaltis | +38 more

1Rady Children’s Institute for Genomic Medicine, San Diego, CA 92123, USA 2Rady Children’s Hospital, San Diego, CA 92123, USA 3Alexion, AstraZeneca Rare Disease, Boston, MA 02210, USA 4Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI 53706, USA 5Department of Pediatrics, University of California, San Diego, San Diego, CA 92093, USA 6Fabric Genomics, Inc., Oakland, CA 94612, USA 7Illumina, Inc., San Diego, CA 92122, USA 8Genomenon Inc., Ann...

Mar 26, 2024 | nature.com | Vaidehi Jobanputra |Brock Schroeder |Heidi Rehm |Stacie L. Taylor |Christian R Marshall |Stephen Kingsmore | +1 more

IntroductionEpidemiologic studies estimate that 2–6% of the global population is affected by a rare disease, up to 80% of which are genetic in origin1,2. Diagnostic delays can result in significant burdens including missed opportunities for intervention, unnecessary procedures and treatments, and an emotional toll on families and their care providers3.