Navigation Links
Scientists and physicians use genetic sequencing to identify and treat unknown disease
Date:12/20/2010

A collaborative team of scientists and physicians at the Medical College of Wisconsin and Children's Hospital of Wisconsin uses genetic sequencing to identify and treat an unknown disease.

For the one of the first times in medical history, researchers and physicians at The Medical College of Wisconsin and Children's Hospital of Wisconsin sequenced all the genes in a boy's DNA to identify a previously-unknown mutation. The team was able not only to identify the mutation, but to develop a treatment plan using a cord blood transplant, and stop the course of the disease.

This accomplishment is published in the December 19, 2010 online edition of Genetics in Medicine http://journals.lww.com/geneticsinmedicine/pages/default.aspx Making a Definitive Diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease. Lead authors are Elizabeth Worthey, Ph. D., and Alan N. Mayer, M.D. Ph.D. Collaborators at Children's Hospital and the Medical College are David A. Margolis, M.D., James Verbsky, M.D., Ph.D., Howard J. Jacob, Ph. D., and David Dimmock, M.D.

At the age of 3, Nicholas Volker of Monona, Wisconsin, had already endured more than 100 surgeries, but was progressively getting sicker. His intestines continued to swell and more abscesses formed, and doctors concluded they were dealing with an unknown cause of disease.

Dr. Alan D. Mayer, assistant professor of Pediatrics at the Medical College, and pediatric gastroenterologist with Children's Hospital, decided to look for the genetic source of the disease.

"Exhaustive efforts to reach a diagnosis revealed numerous abnormalities in Nick's immune system, but none pointed to a specific disease," Dr. Mayer explained. "So we decided the next logical step was to sequence his entire exome."

Researchers examined all 20,000 of his genes looking for the cause of this rare disease. After three months poring over data, the researchers identified a unique mutation in one gene. They confirmed that mutation to be responsible for Nick's previously-undocumented form of bowel disease, which is part of a broader XIAP deficiency.

The team then performed a blood cord transplant in June using stem cells from a matched, healthy donor. Five months later, Nick is home and eating a healthy diet for the first time.

"There has been no return of the bowel disease," said Dr. David A. Margolis, the program director for the Blood and Marrow Transplant Program at Children's Hospital, and associate professor of pediatrics at the Medical College. "At this point, he is a transplant recipient and his current treatment focuses on maintaining his health with the challenges posed by the transplant."

The Medical College of Wisconsin and Children's Hospital of Wisconsin are developing a new strategy as well as formal policies and procedures to guide the approach to future cases in which genetic sequencing will be used as a diagnostic tool.

"We are confident that genomic sequencing will have a growing role in establishing the correct diagnosis for patients and, most importantly, improving outcomes," said Dr. Jacob, the Warren P. Knowles Professor of Molecular Genetics, director of the Medical College's Human and Molecular Genetics Center and professor of physiology


'/>"/>

Contact: Maureen Mack
mmack@mcw.edu
414-955-4744
Medical College of Wisconsin
Source:Eurekalert

Related biology news :

1. Jefferson scientists deliver toxic genes to effectively kill pancreatic cancer cells
2. Scientists identify novel inhibitor of human microRNA
3. Argonne scientists peer into heart of compound that may detect chemical, biological weapons
4. MU scientists go green with gold, distribute environmentally friendly nanoparticles
5. Scientists identify gene that may contribute to improved rice yield
6. Scientists discover why a mothers high-fat diet contributes to obesity in her children
7. MU scientists see how HIV matures into an infection
8. Earth scientists keep an eye on Texas
9. Thinking it through: Scientists call for policy to guide biofuels industry toward sustainability
10. Scientists identify a molecule that coordinates the movement of cells
11. Scientists Find new migratory patterns for Mediterranean and Western Atlantic bluefin tuna
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:4/11/2017)... , Apr. 11, 2017 Research and ... Market 2017-2021" report to their offering. ... The global eye tracking market to grow at a ... report, Global Eye Tracking Market 2017-2021, has been prepared based on ... covers the market landscape and its growth prospects over the coming ...
(Date:4/5/2017)... April 5, 2017 Today HYPR Corp. ... the server component of the HYPR platform is officially ... the end-to-end security architecture that empowers biometric authentication across ... has already secured over 15 million users across the ... of connected home product suites and physical access represent ...
(Date:3/30/2017)... KONG , March 30, 2017 The ... a system for three-dimensional (3D) fingerprint identification by adopting ground breaking ... into a new realm of speed and accuracy for use in ... at an affordable cost. ... ...
Breaking Biology News(10 mins):
(Date:10/10/2017)... DALLAS , Oct. 10, 2017 International research firm ... IoT Strategy, will speak at the TMA 2017 Annual Meeting , ... key trends in the residential home security market and how smart safety ... ... "The ...
(Date:10/9/2017)...  BioTech Holdings announced today identification and patenting ... stem cell therapy prevents limb loss in animal ... that treatment with ProCell resulted in more than ... to standard bone marrow stem cell administration.  Interestingly, ... of therapeutic effect.  ...
(Date:10/9/2017)... ... October 09, 2017 , ... ... 5, 2017, in the medical journal, Epilepsia, Brain Sentinel’s SPEAC® System which ... video EEG, in detecting generalized tonic-clonic seizures (GTCS) using surface electromyography (sEMG). ...
(Date:10/6/2017)... ... October 06, 2017 , ... The HealthTech Venture ... sector at their fourth annual Conference where founders, investors, innovative practitioners and collaborators ... ELEVATE pitch competition showcasing early stage digital health and med tech companies. , ...
Breaking Biology Technology: