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:4/11/2017)... , April 11, 2017 NXT-ID, ... security technology company, announces the appointment of independent Directors Mr. ... to its Board of Directors, furthering the company,s corporate ... ... NXT-ID, we look forward to their guidance and benefiting from ...
(Date:4/4/2017)... YORK , April 4, 2017   EyeLock ... today announced that the United States Patent and Trademark ... patent broadly covers the linking of an iris image ... same transaction) and represents the company,s 45 th ... latest patent is very timely given the multi-modal biometric ...
(Date:3/29/2017)... the health IT company that operates the largest health ... today announced a Series B investment from BlueCross BlueShield ... investment and acquisition accelerates higi,s strategy to create the ... activities through the collection and workflow integration of ambient ... secures data today on behalf of over 36 million ...
Breaking Biology News(10 mins):
(Date:10/11/2017)... Bay, Florida (PRWEB) , ... October 11, 2017 ... ... and Drug Administration (FDA) has granted orphan drug designation to SBT-100, its novel ... (sdAb) for the treatment of osteosarcoma. SBT-100 is able to cross the cell ...
(Date:10/10/2017)... ... October 10, 2017 , ... ... conjugate (ADC) therapeutics, today confirmed licensing rights that give it exclusive global ... technology developed in collaboration with Children’s Hospital Los Angeles (CHLA). Additionally, ...
(Date:10/10/2017)... ... October 10, 2017 , ... Dr. Bob Harman, founder and ... San Diego Rotary Club. The event entitled “Stem Cells and Their ... 300+ attendees. Dr. Harman, DVM, MPVM was joined by two human doctors: Peter ...
(Date:10/10/2017)... , Oct. 10, 2017 SomaGenics announced ... the NIH to develop RealSeq®-SC (Single Cell), expected to ... profiling small RNAs (including microRNAs) from single cells using ... highlights the need to accelerate development of approaches to ... "New techniques for measuring levels of ...
Breaking Biology Technology: