Navigation Links
Sequencing works in clinical setting to help -- finally -- get a diagnosis


"Just knowing what was causing the problem took away the mystery, which gives families some comfort," Shashi said.

Goldstein said that simply studying more patients with sequencing tools would facilitate discovery by searching for similarities among patients that have mutations in the same or similar genes.

With time, this would also reveal more diagnoses, said lead author Anna Need, Ph.D., who works in the Duke Center for Human Genome Variation.

"Despite the fact that we ended up with a short list of gene variants for each person we studied and ran other tests, we had no real evidence of a related disease because there haven't been other reported conditions or people with mutations in those genes," Need said. "Some of the people we had no results for yet may get answers as their variants become associated with diseases through other sequencing."

The results of this study also are important for genetic counseling, Goldstein said.

For example, some of the likely diagnoses are due to new mutations that happened in the children, known as de novo mutations. In these cases, the parents would be less likely to pass it on through a subsequent pregnancy, for example.

Another lesson of the study was that some of these individuals may have multiple genetic conditions. Shashi noted one child received a diagnosis for only one of several conditions she had.

"We may not find all of the genetic causes, but over time the success of this type of testing and the information we learn will only grow," Need said. "Out of the genes we found, two have been found to be associated with disease through recent studies by other researchers."

Goldstein said it is imperative to set up large genetic databases in tertiary medical centers, which have the doctors and scientists who can evaluate patients who might benefit from next-generation sequencing. They would also have the team to do the genomic sequencing,

Contact: Mary Jane Gore
Duke University Medical Center

Page: 1 2 3

Related biology news :

1. Powerful sequencing technology decodes DNA folding pattern
2. Analyzing complex plant genomes with the newest next-generation DNA sequencing techniques
3. Genome sequencing finds unknown cause of epilepsy
4. Chinese scientists announce the first complete sequencing of Mongolian genome
5. Brigham and Womens Hospital awarded $9.6 million to study whole genome sequencing
6. BGI and CIAT announce collaboration for large-scale genome sequencing of cassava
7. Biotech start-up brings DNA-sequencing to the medical market
8. Forest Service part of team sequencing 1,000 fungal genomes
9. Trillions served: Massive, complex projects for DOE JGI 2012 Community Sequencing Program
10. Liver parasite lacks key genes for fatty acid synthesis: Genome sequencing of Clonorchis sinensis
11. Scripps launches whole genome sequencing study to find root causes of idiopathic diseases
Post Your Comments:
(Date:10/9/2015)... , Oct. 09 2015 ... the addition of the "Samsung Galaxy ... report to their offering. --> ... of the "Samsung Galaxy S6 Fingerprint ... to their offering. --> Research ...
(Date:10/8/2015)... 8, 2015 Synaptics Inc. (NASDAQ: SYNA ... announced today that it will report financial results ... Thursday, October 22, 2015, after the close of ... call for analysts and investors at 2:00 p.m. ... discuss forward-looking information. ). ...
(Date:10/8/2015)... 8. Oktober 2015 Die Track ... Unternehmen des Bereiches Tracking, hat heute bekannt ... Gefängnisbehörde Virginias (Department of Corrections – DOC) ... für alle Strafen geliefert werden, die der ... Präsident für den Amerikanischen Kontinent der Track ...
Breaking Biology News(10 mins):
... the brain by the hunger-signaling hormone ghrelin, researchers say. ... the pharmacologic control of cholesterol levels. The ... the University of Cincinnati (UC) endocrinology division, appears online ... Nature Neuroscience . "We have long thought ...
... With the rapid and continuous advances in biotechnology, scientists ... cell to unlock the secrets of its genetic material. However, ... remained a mystery. Now, researchers with the National Institutes of ... nucleus determines a cell,s behavior. They looked at mouse immune ...
... sources, oils, paints, and more from biomass as a raw ... obtained. Aware of this, engineer Mara Gonzlez looked for the ... suitable processing techniques and technologies for refining them. Her aim ... and thus substitute them for fossil fuels in the future. ...
Cached Biology News:
(Date:10/9/2015)... -- Pulmatrix, Inc., (NASDAQ: PULM ) will be webcasting the ... th Annual BIO Investor Forum on Tuesday, October ... --> th Annual BIO Investor Forum on ... EDT). --> Pulmatrix will be presenting at ... Thursday, October 15, 2015 at 8:30 am EDT. Additionally, the ...
(Date:10/8/2015)...  Sorrento Therapeutics, Inc. (NASDAQ:  SRNE; Sorrento), a ... and associated pain, announced today that Dr. Henry Ji, President ... the Aegis Capital Corporation 2015 Growth Conference in ... 2015 Growth ConferenceDate:Friday, October 9, 2015Time:10:00 to 10:30 ... Wynn in Las Vegas, NV , ...
(Date:10/8/2015)... .   ... Goldman Small Cap Research, a stock market research ... sectors, announced today that it has published a ... (OTCQB - PMCB), a publicly traded, clinical stage ... for cancer and diabetes. To view the sponsored ...
(Date:10/8/2015)... VANCOUVER , Oct. 8, 2015 /PRNewswire/ - RepliCel Life ... regenerative medicine company focused on the development of autologous ... licensing and partnering meetings taking place in the month ... Mesa – Partnering Forum RepliCel will be presenting ... Cell Meeting on the Mesa to be held October ...
Breaking Biology Technology:
... 3 Kendle (Nasdaq: KNDL ), a leading, ... participate in the upcoming Robert Baird 2009 Health Care Conference ... York in New York City. , , ... Kendle,s formal presentation will be given by Senior ...
... , , BETHESDA, Md., Sept. ... innovator in biotechnology for diabetes therapy, and a provider of ... pharmaceutical companies, today announced that Dr. Claire Kruger, Chief Executive ... corporate overview at the Rodman & Renshaw 11(th) Annual Healthcare ...
... , , NEW YORK, Sept. 3 ... catalogue. , , Proteomics: Technologies and Global ... , , REPORT HIGHLIGHTS ... is expected to increase from $6.7 billion in 2008 to an estimated ...
Cached Biology Technology:
50 assays. Provides an easy system for rapid separation of cytosol and particulate fractions that are compatiable with downstream studies....
Highly sensive assay for detecting apoptosis in living cells. See detailed descriptions above in K250-25....
Eliminate electrical interference from any analog signal, without filtering. Ideal for electrophysiology applications like EKG, EMG, and EEGs. Removes 50/60hz noise and harmonics caused by grounding ...
... For real-time or pre-programmed liquid ... electrochemistry, or general liquid-handling research ... millisecond accuracy. Run ... Microprocessor-based for accuracy and ...
Biology Products: