Genetic Sequencing Advances Help Identify & Treat Rare Diseases | KCUR

Genetic Sequencing Advances Help Identify & Treat Rare Diseases

Jan 7, 2013

Dr. Darrell Dinwiddie with Dr. Stephen Kingsmore at Children Mercy's Center for Pediatric Genomic Medicine
Credit Mark McDonald / Children's Mercy Hospitals and Clinics
Recent advances in genome sequencing, including a technology developed at Children’s Mercy Hospital known as "fast sequencing," are helping medical professionals diagnose often-fatal diseases. 

Fast sequencing is a way to speed up the diagnosis of critically ill infants with genetic diseases. In the past, such diagnosis, using genome sequencing, has taken a lot of time, and it's been too costly and complex to have much real-world application.

  Monday on Up to Date, Steve Kraske welcomes Dr. Stephen Kingsmore, director of the Center for Pediatric Genomic Medicine at Children's Mercy, to talk about his center's breakthroughs and promise, and we'll talk with Dr. Matthew Ellis, a professor in the Department of Medicine's Oncology Division at Washington University in St. Louis about genetic breakthroughs in breast cancer research driven by incredible advances in our understanding of the human genome. 

Stephen Kingsmore, MB, ChB, BAO, DSc, FRCPath, was appointed Director of the Children's Mercy Center for Pediatric Genomic Medicine in January 2011. Previously, Dr. Kingsmore was variously the President, CEO and Chief Scientific Officer of the National Center for Genome Resources, Santa Fe, New Mexico. Prior to this, Dr. Kingsmore was Chief Operating Officer of Molecular Staging Inc., Vice President of Research of CuraGen Corp. and Assistant Professor at the University of Florida. Dr. Kingsmore received a B.Sc. in medical microbiology, degrees in medicine (M.B., Ch.B., B.A.O.) and D.Sc. in molecular genetics from the Queen's University Belfast in Northern Ireland. He completed residency in Internal Medicine and fellowship in Rheumatology at Duke. He is a Fellow of the Royal College of Pathologists (UK) and a member of the DHHS Secretary's Advisory Committee on Heritable Disorders in Newborns and Children Carrier Screening Workgroup. His research interests are genome analysis, systems surveys and individualized medicine.  

Dr. Matthew Ellis is a professor specializing in breast oncology at the Department of Medicine at Washington University in St. Louis.  He holds degrees and certifications from King’s College, University of London; St. Mary's Hospital Medical School, University of London; Queens’ College & School of Clinical Medicine, University of Cambridge; Royal College of Physicians in London; and Royal Postgraduate Medical School, University of London. He is a member of the Breast Cancer Committee at the American College of Surgeons Oncology Group, vice chair of the Breast Cancer Committee, Cancer and Lymphoma Group B and chairman of the Medical Oncology Committee and vice chair of the of the Breast Committee at the American College of Surgeons Oncology Group.