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:6/22/2016)... , June 22, 2016   ... management and verification solutions, has partnered with ... software solutions for Visitor Management, Self-Service Kiosks ... provides products that add functional enhancements to ... provides corporations and venues with an automated ...
(Date:6/15/2016)... 15, 2016 Transparency Market ... Recognition Market by Application Market - Global Industry Analysis Size ... to the report, the  global gesture recognition market ... and is estimated to grow at a CAGR ... 2024.  Increasing application of gesture recognition ...
(Date:6/2/2016)... 2016 The Department of Transport Management ... 44 million US Dollar project, for the , ... Personalization, Enrolment, and IT Infrastructure , to ... and implementation of Identity Management Solutions. Numerous renowned international vendors ... Decatur was selected for the most compliant and ...
Breaking Biology News(10 mins):
(Date:6/24/2016)... , June 24, 2016  Regular discussions on a ... take place between the two entities said Poloz. ... Ottawa , he pointed to the country,s ... the federal government. ... said, "Both institutions have common economic goals, why not sit ...
(Date:6/24/2016)... ... June 24, 2016 , ... Researchers at the Universita Politecnica delle Marche in ... peritoneal or pleural mesothelioma. Their findings are the subject of a new article on ... biomarkers are signposts in the blood, lung fluid or tissue of mesothelioma patients that ...
(Date:6/23/2016)... 23, 2016   Boston Biomedical , an ... designed to target cancer stemness pathways, announced that ... Orphan Drug Designation from the U.S. Food and ... cancer, including gastroesophageal junction (GEJ) cancer. Napabucasin is ... inhibit cancer stemness pathways by targeting STAT3, and ...
(Date:6/23/2016)... 2016 Houston Methodist Willowbrook Hospital has ... Association to serve as their official health care ... Willowbrook will provide sponsorship support, athletic training services, ... coaches, volunteers, athletes and families. "We ... Association and to bring Houston Methodist quality services ...
Breaking Biology Technology: