Navigation Links
Personalized medicine eliminates need for drug in 2 children
Date:1/31/2013

ertension.

Hoping to better target patient treatment, the investigators went about tracking down the exact cause of adrenal insufficiency. They proceeded to analyze part of the genome that codes for genes in one patient's DNA (whole-genome sequencing being still too expensive for the time being). To their great surprise, the analysis indicated the presence of two mutations in POMC, the gene that codes for ACTH, in the patient. Direct sequencing of the POMC gene in DNA from the second patient confirmed the occurrence of one of the mutations in that child as well. The researchers then collaborated with Dr. Michel Bouvier (University of Montreal) and Dr. Nicole Gallo-Payet (University of Sherbrooke) to validate the discovery by performing in vitro tests on cells using two synthetic ACTHs produced for the experiment: one normal and the other carrying the mutation observed in both children. These studies showed that, while high levels were detected in the blood, the mutant ACTH was inactive. Due to technical limitations, the standard diagnostic test that detects ACTH was unable to distinguish between the normal and the mutated form found in the patients.

"The genome analysis allowed us to incriminate the POMC gene. Since the gene was not suspect according to the blood tests, we would have missed the cause of the disease without this new technique," concludes Dr. Deladoy, a physician and researcher in endocrinology and diabetology.

This case of personalized medicine made possible through novel genomic techniques is just the tip of the iceberg. In the near future, investigators hope to succeed in refining the treatment of many patients using these techniques.


'/>"/>
Contact: William Raillant-Clark
w.raillant-clark@umontreal.ca
514-343-7593
University of Montreal
Source:Eurekalert

Page: 1 2 3

Related biology news :

1. Report from the front lines of personalized reproductive medicine revolution
2. BodyMedia & FitOrbit Up the Ante in Personalized Weight Loss
3. Study advances use of stem cells in personalized medicine
4. Scanning innovation can improve personalized medicine
5. Privately owned genetic databases may hinder diagnosis and bar the way to the arrival of personalized medicine
6. How to Differentiate Your Pharmaceutical Product in the Personalized Medicine Segment
7. Creating a future of personalized medicine: U-M forms joint venture for DNA diagnostics
8. Chromosomal translocations point the way toward personalized cancer care
9. Advances in personalized medicine for lung cancer
10. Beers bitter compounds could help brew new medicines
11. Microdosing: Updating its role in developing new medicines
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:5/11/2015)... 11, 2015 Curemark LLC, a privately held ... a new Phase III double blind, randomized, placebo-controlled clinical ... CM-AT, on all children ages 3-8 with Autism. Previously, ... III double blinded clinical trial for CM-AT in children ... the digestive enzyme chymotrypsin. This new trial will help ...
(Date:5/8/2015)... Synaptics Inc. (NASDAQ: SYNA ), the leading ... the executive management team will present at the following investor ... Telecom Conference Date: May 18, 2015 Time: 10:40am ... Cowen and Company Technology, Media & ... The New York Palace Hotel, New York, NY ...
(Date:5/6/2015)... 2015 LifeBEAM, a developer of bio-sensing technology, ... today that they will expand their partnership in bio-sensing ... cycling helmet and the first joint project between the ... in order to give cyclists more style choices and ... and Lazer announced their plan to release a new ...
Breaking Biology News(10 mins):Curemark, LLC, Launches New Phase III Trial in Expanded Population of Children with Autism 2Synaptics to Present at Upcoming Investor Conferences 2LifeBEAM and Lazer Announce Expanded Partnership in Bio-Sensing Sports Gear 2LifeBEAM and Lazer Announce Expanded Partnership in Bio-Sensing Sports Gear 3
... of the 1962 Nobel Prize with Francis Crick and Maurice ... DNA, will present "Curing Incurable Cancer" and attend other events ... the James Graham Brown Cancer Center at the University of ... 5, at the Brown Theater, 315 W. Broadway, Louisville. Admission ...
... early stages of a major cause of failure in joint ... avoid additional surgery. More than 1.5 million total joint replacement ... is 90 per cent, almost 10 per cent of implants ... journal Molecular Pharmaceutics . Dong Wang and colleagues ...
... do not rely on oxygen may have played an important ... to a theory that UChicago researcher Albert Colman is testing ... Siberia. He has found that bacteria at the site ... that scientists must take into account as they attempt to ...
Cached Biology News:UofL hosts address by Nobel Laureate, DNA structure co-discoverer James Watson 2Cold case: Siberian hot springs reveal ancient ecology 2Cold case: Siberian hot springs reveal ancient ecology 3
(Date:5/20/2015)... Mass. , May 20, 2015  Haemonetics Corporation ... Concannon , President & CEO, will present at The ... York on June 1 st , 2015 ... may access Mr. Concannon,s presentation live via webcast at: ... Haemonetics (NYSE: HAE ) is a global ...
(Date:5/20/2015)... May 20, 2015  Resolution Bioscience announced today the ... ALK TM , a blood-based liquid biopsy for an ... carcinoma (NSCLC), the most common form of this cancer. ... guide patients to personalized therapies and direct them into ... The Department of Health, the CLIA authority in ...
(Date:5/20/2015)... Carolina , 20. Mai 2015 ... für klinische Logistik (Clinical Logistics Organization/CLO) ... Geschäftsjahr 2014, das am 31. Dezember ... Unternehmen hat die Marktentwicklung übertroffen und ... - http://photos.prnewswire.com/prnh/20110930/NY78064LOGO ...
(Date:5/20/2015)... (PRWEB) May 20, 2015 The ... based not-for-profit organization, is pleased to announce they are ... Trials Day. These donations represent the effort and commitment ... at the GGI partner sites in 2014. , ... the greater good of clinical trial participation, GGI supports ...
Breaking Biology Technology:Resolution Bioscience Receives CLIA Certification for its Diagnostic Laboratory and Launches CLIA-Certified Liquid Biopsy for Lung Cancer 2Marken schließt Ergebnisse für das Geschäftsjahr 2014 ab 2The Greater Gift Initiative Donates over 10,000 Vaccines in Honor of International Clinical Trials Day 2
... immunoaffinity purified antibody detects an ~185 kDa ... of ErbB-2 phosphorylated at tyrosine 1248 on ... been cross adsorbed against the non-phosphorylated peptide ... non-phosphorylated form of the protein. In ...
Mouse monoclonal [4A2.2] to SLC6A4 ( Abpromise for all tested applications). entrezGeneID: 6532 SwissProtID: P31645...
...
... The complete SSCP kit provides all ... mutation detection by single-stranded conformation polymorphism analysis ... system. The kit includes a cooling finger ... (not provided), 2 sets of 20 cm ...
Biology Products: