Navigation Links
Gene Discoveries Give Hope Against 'Brittle Bone' Disease
Date:5/8/2013

, inherited form of early onset osteoporosis, the youngest being a 12-year-old boy. In the Asian family affected by osteogenesis imperfecta, two sisters had severe forms of the disease: One woman was in a wheelchair, less than 3 feet tall and had serious bone deformities; her sister had started suffering fractures while still in the womb, had been paralyzed since early childhood and was severely intellectually impaired.

The sisters had what is known as recessive osteogenesis imperfecta, meaning they inherited a mutated gene from both parents (who were not themselves affected). Most cases of osteogenesis imperfecta arise when a child has just one copy of the defective gene -- either inherited from one parent or because the gene spontaneously mutated.

There is no cure for osteogenesis imperfecta. Right now, treatment involves physical therapy, walking aids, a healthy diet and possibly surgery to place rods through the length of the long bones to strengthen them. Researchers also are studying other treatments, such as growth hormone therapy and IV and oral bisphosphonates.

More information

Learn more about osteogeneis imperfecta from the Osteogeneis Imperfecta Foundation.

SOURCES: Brendan Lee, M.D., Ph.D., professor, molecular and human genetics, Baylor College of Medicine, Houston; Francis Glorieux, M.D., Ph.D., Shriners Hospital for Children, Montreal; May 9, 2013, New England Journal of Medicine


'/>"/>
Copyright©2012 ScoutNews,LLC.
All rights reserved  

Page: 1 2 3

Related medicine news :

1. Smell and taste experts to discuss new discoveries
2. LSUHSC research discoveries shed light on common STI
3. New discoveries linking gut bacteria with cholesterol metabolism give hope for the future
4. $50 million to speed discoveries for patients
5. Register now! San Diego meeting will showcase latest aging discoveries
6. Expanding database enables discoveries in emerging field of metabolomics
7. Barrow researchers use magic for discoveries
8. Parents who suck on their infants pacifiers may protect their children against developing allergy
9. Veteransmovinghelp.com Launches Major Offensive in War Against Unemployment
10. Living Long May Protect Against Early Alzheimers, Study Finds
11. Penn study shows national movement against non-medically indicated deliveries prior to 39 weeks
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
Gene Discoveries Give Hope Against 'Brittle Bone' Disease
(Date:4/18/2014)... A new study in the American Journal of ... searches reveals a recurring pattern that could be leveraged ... from San Diego State University, the Santa Fe Institute, ... Google searches (searches that included the term healthy and ... U.S. from 2005 to 2012. They found that on ...
(Date:4/17/2014)... who show signs of chronic inflammation in non-cancerous prostate ... having prostate cancer than those with no inflammation, according ... from the Johns Hopkins Kimmel Cancer Center. , The ... for men with so-called high-grade prostate cancer those ... indicating the presence of the most aggressive and rapidly ...
(Date:4/17/2014)... in PLOS Pathogens , children who live in ... mount an immune response to infection with malaria parasites ... high fever and illness and partially control the growth ... help researchers develop future interventions that prevent or mitigate ... year, approximately 200 million cases of malaria occur worldwide, ...
(Date:4/17/2014)... NY In a review published in the April ... president of The Feinstein Institute for Medical Research, says ... medical community,s approach to treating sepsis, which ... Americans. , Sepsis occurs when molecules released into the ... throughout the body. Inflammation is necessary for maintaining good ...
(Date:4/17/2014)... 2014) Doctors who treat patients with a ... can face an agonizing treatment decision. , The ... and help relieve shortness of breath. But some ... can cause potentially fatal complications following transplantation. , ... Dilling, medical director of Loyola University Medical Center,s ...
Breaking Medicine News(10 mins):Health News:New research shows people are thinking about their health early in the week 2Health News:Chronic inflammation linked to 'high-grade' prostate cancer 2Health News:Chronic inflammation linked to 'high-grade' prostate cancer 3Health News:Study sheds light on how the immune system protects children from malaria 2Health News:Feinstein Institute researcher publishes new perspective on sepsis 2Health News:Patients with rare lung disease face agonizing treatment dilemma 2Health News:Patients with rare lung disease face agonizing treatment dilemma 3
... by the Seychelles Food and Agriculture Organization (FAO) to ... all the necessary help like donating equipment such as ... Department of Natural resources. This done as they would ... local outbreak. The FAO’s country correspondent, Antoine Marie Moustache ...
... problems of health capturing people worldwide it is very important to ... it is done at the workplace for people who work- almost ... educate the employees on how to attain a better health and ... stay fit and not turn obese. This also helps to cut ...
... MCD today said there was a rise in the breeding ... //a special drive to check breeding of the vector. ... for the spread of the dreaded fever, has been reported ... the Corporation said in a release. ,The MCD ...
... has urged the doctors working in various hospitals in ... vaccine, as recommended by World Health Organisation //. ... intra-dermal route, the doctors could vaccinate five patients from ... per cent less as compared to intra-muscular vaccine. ...
... who stutter, cope with their stressors and emotions as ... with the speech difficulty //. , ,"Our ... apt to be emotionally aroused, less able to settle ... attention and emotion during everyday stressful or challenging situations," ...
... postmortem brain tissue from patients with schizophrenia, researchers at ... with scientists at the City University of New York, ... high level of erbB4 receptor activity and reduced NMDA ... prefrontal cortex of schizophrenic patient were stimulated. Thus found ...
Cached Medicine News:Health News:An analysis of pros and cons of health education at the workplace 2Health News:Supporting children with stress key to improve stuttering 2Health News:Supporting children with stress key to improve stuttering 3Health News:Schizophrenia Complicates With Altered Receptor Activity 2Health News:Schizophrenia Complicates With Altered Receptor Activity 3
(Date:1/15/2014)... Ky. , Jan. 15, 2014  Manufacturers, suppliers ... must be able to protect their most important ... http://photos.prnewswire.com/prnh/20130716/CL46586LOGO ) Because of ... it steadfastly remains one of the most litigious ...
(Date:1/15/2014)... , Jan. 15, 2014  Echo Therapeutics, Inc. (Nasdaq: ... its Symphony® CGM System as a non-invasive, wireless continuous ... Doman , Executive Chairman and Interim CEO of Echo ... Tenth Annual Equity Conference. Mr. Doman ...
(Date:1/15/2014)... 15, 2014 Reportlinker.com announces that a ... its catalogue: PharmaPoint: ... Market Analysis to 2022 ... - India Drug Forecast and Market Analysis ...
Breaking Medicine Technology:Intellectual Property Insurance for Medical-related Products and Services 2Echo Therapeutics to Present at the Noble Financial Capital Markets' Tenth Annual Equity Conference 2Echo Therapeutics to Present at the Noble Financial Capital Markets' Tenth Annual Equity Conference 3PharmaPoint: Atopic Dermatitis - India Drug Forecast and Market Analysis to 2022 2PharmaPoint: Atopic Dermatitis - India Drug Forecast and Market Analysis to 2022 3PharmaPoint: Atopic Dermatitis - India Drug Forecast and Market Analysis to 2022 4PharmaPoint: Atopic Dermatitis - India Drug Forecast and Market Analysis to 2022 5
... national reference laboratory and a worldwide leader ... offers an extensive test menu of highly ... and anatomic pathology. Owned by the University ... than half of the nation's university teaching ...
... Laboratories is a national reference laboratory and ... and development. ARUP offers an extensive test ... tests in clinical and anatomic pathology. Owned ... clients include more than half of the ...
... national reference laboratory and a worldwide leader ... offers an extensive test menu of highly ... and anatomic pathology. Owned by the University ... than half of the nation's university teaching ...
... national reference laboratory and a worldwide leader ... offers an extensive test menu of highly ... and anatomic pathology. Owned by the University ... than half of the nation's university teaching ...
Medicine Products: