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:2/2/2016)... 2, 2016  Based on its recent analysis ... recognizes US-based Intelligent Retinal Imaging Systems (IRIS) with ... for New Product Innovation. IRIS, a prominent cloud-based ... America , is poised to set the ... retinopathy market. The IRIS technology presents superior price-performance ...
(Date:1/28/2016)... -- Synaptics (NASDAQ: SYNA ), a leading developer of human ... December 31, 2015. --> --> ... 2 percent compared to the comparable quarter last year to $470.5 ... $35.0 million, or $0.93 per diluted share. ... quarter of fiscal 2016 grew 9 percent over the prior year ...
(Date:1/22/2016)... , January 22, 2016 /PRNewswire/ ... announced the addition of the  "Global ... their offering. --> http://www.researchandmarkets.com/research/4lmf2s/global_behavioral ... the  "Global Behavioral Biometric Market 2016-2020" ... Research and Markets ( http://www.researchandmarkets.com/research/4lmf2s/global_behavioral ) ...
Breaking Biology News(10 mins):
(Date:2/11/2016)... DIEGO, Feb. 11, 2016  Neurocrine Biosciences, Inc. (NASDAQ: NBIX ... ended December 31, 2015. --> ... a net loss of $29.3 million, or $0.34 loss per share, ... per share for the same period in 2014. For the year ... $88.9 million, or $1.05 loss per share, as compared to a ...
(Date:2/11/2016)... , Germany and ... QGEN ; Frankfurt Prime Standard: QIA) today ... Targeted RNA Panels for gene expression profiling, expanding QIAGEN,s ... (NGS). The panels enable researchers to select from over ... changes and discover interactions between genes, cellular phenotypes and ...
(Date:2/11/2016)... 2016  Spectra BioPharma Selling Solutions (Spectra) is ... biopharma companies the experience, expertise, operational delivery and ... sales teams. Created in concert with industry leading ... strategic and tactical needs of its clients by ... both personal and non-personal promotion. ...
(Date:2/11/2016)... ... February 11, 2016 , ... ... dedicated to delivering cutting-edge information focused on the development and manufacture of ... become a premier sponsor of the 2016 BioProcess International Awards – Recognizing ...
Breaking Biology Technology: