Navigation Links
First diagnostic test for hereditary children's disease
Date:6/16/2011

A breakthrough in genetic research has uncovered the defect behind a rare hereditary children's disease that inhibits the body's ability to break down vitamin D. This discovery has led researchers to develop the first genetic and biochemical tests that positively identify the disease.

Idiopathic Infantile Hypercalcemia (IIH) is among the top ten most common inherited diseases. The researchers estimate that one in every 47,000 people around 600 Canadians and 6,000 Americans may suffer from IIH, but there was no way until now of confirming the diagnosis.

"Developing a positive diagnostic test for IIH is a major step in understanding this disease," says co-lead researcher Glenville Jones, a professor in the Department of Biomedical and Molecular Sciences. "We hope the test will be made available for the approximately 600 Canadians who may be afflicted with IHH."

The body's inability to break down vitamin D results in an excess of calcium in the blood. Children with IIH suffer from calcifications and tissue hardening throughout the body, as well as calcification of the kidneys and renal failure.

"This is classic case of research going from the bench to the bedside," explains Dr. Jones. "Our research started in the laboratory but the findings will have a definite impact on the health of Canadians."

This research was conducted in collaboration with pediatricians Martin Konrad and Karl-Peter Schlingmann from the University Children's Hospital in Munster, Germany, and funded in part by the Canadian Institutes of Health Research. The findings were published yesterday in the New England Journal of Medicine.


'/>"/>

Contact: Christina Archibald
christina.archibald@queensu.ca
613-533-2877
Queen's University
Source:Eurekalert  

Page: 1

Related biology news :

1. New way to make malaria medicine also first step in finding new antibiotics
2. Complete Genomics launches, becomes worlds first large-scale human genome sequencing company
3. Digital zebrafish embryo provides the first complete developmental blueprint of a vertebrate
4. Synaptics to Report First Quarter Results on October 23
5. Alzheimers disease research attracts first partner
6. Volcanoes may have provided sparks and chemistry for first life
7. Study of polar dinosaur migration questions whether dinosaurs were truly the first great migrators
8. Synaptics Reports Record Results for First Quarter of Fiscal 2009
9. First comprehensive genomic study of common cold reveals new treatment targets
10. Scientists achieve first tracking of salmon from headwaters in Rockies through Pacific to Alaska
11. First results from hospital trials testing
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
First diagnostic test for hereditary children's disease
(Date:4/13/2017)... According to a new market research report "Consumer IAM Market ... Authorization), Service, Authentication Type, Deployment Mode, Vertical, and Region - Global Forecast ... from USD 14.30 Billion in 2017 to USD 31.75 Billion by 2022, ... ... MarketsandMarkets Logo ...
(Date:4/11/2017)... NXT-ID, Inc. (NASDAQ:   NXTD ) ... appointment of independent Directors Mr. Robin D. Richards ... Directors, furthering the company,s corporate governance and expertise. ... Gino Pereira , Chief Executive ... their guidance and benefiting from their considerable expertise as we ...
(Date:4/5/2017)... , April 4, 2017 KEY FINDINGS ... anticipated to expand at a CAGR of 25.76% during ... diseases is the primary factor for the growth of ... report: https://www.reportbuyer.com/product/4807905/ MARKET INSIGHTS The global ... product, technology, application, and geography. The stem cell market ...
Breaking Biology News(10 mins):
(Date:10/12/2017)... ... ... AMRI, a global contract research, development and manufacturing organization ... quality of life, will now be offering its impurity solutions as a stand-alone ... for all new drug products, including the finalization of ICH M7 earlier this ...
(Date:10/11/2017)... ... 2017 , ... Personal eye wash is a basic first aid supply for any work environment, ... eye do you rinse first if a dangerous substance enters both eyes? It’s one less ... with its unique dual eye piece. , “Whether its dirt and debris, or an acid ...
(Date:10/11/2017)... LAGUNA HILLS, Calif. , Oct. 11, 2017 /PRNewswire/ ... London (ICR) and University of ... tool to risk-stratify patients with multiple myeloma (MM), in a ... . The University of Leeds is ... Myeloma UK, and ICR will perform the testing services to ...
(Date:10/10/2017)... ... October 10, 2017 , ... San Diego-based team building ... corporate rebranding initiative announced today. The bold new look is part of a ... company moves into a significant growth period. , It will also expand its service ...
Breaking Biology Technology: