Navigation Links
Researchers Pinpoint Cause of Port-Wine Stain Birthmarks
Date:5/9/2013

otions."

Ball and her husband started the Sturge-Weber Foundation in 1987, after their daughter, Kaelin, was born with the condition.

"When they gave me Kaelin, when she was a baby, she had a birthmark on her whole face," Ball said. "You feel all kinds of emotions at that moment too."

Beyond the birthmark, half of Kaelin's brain had hardened before birth and didn't work. Pressure was building up in her eyes, threatening her optic nerve. Doctors told the Balls that their daughter would likely have seizures and could lose her vision over time.

"Once I got over the pity party that I had -- 'Oh, she's never going to do this and she's never going to do that' -- then we geared up and said, 'All right, we're going to find out why this happened and make it better.'"

Ball met Pevsner at a conference sponsored by the U.S. National Institutes of Health in 1999. There, doctors said they would need tissue samples if they were to discover the roots of the condition.

Ball began to urge parents to contribute to a collection of samples.

"That was a hard sell for parents, because they didn't want to scar their baby on top of the birthmark, so you have to walk them through that psychological process [of donating tissue]," she said.

They didn't yet know what kinds of tests doctors might need to run, so some of the samples were preserved in paraffin wax while others were frozen or stored in saline.

"The donated samples were essential to the success of the research," Comi said.

For the study, researchers sequenced the entire genome -- 3 billion base pairs of DNA -- from samples of tissue taken from three different patients. Half of the samples were from affected areas of skin or brain tissue while the other half were from normal, healthy tissue from the same patients.

Out of 700 billion base pairs of DNA, there was only a single spot that was consistently changed between affected and unaffected samples.

"It's a needl
'/>"/>

Copyright©2012 ScoutNews,LLC.
All rights reserved  

Page: 1 2 3 4

Related medicine news :

1. NIH awards $20 million over 5 years to train next generation of global health researchers
2. Researchers develop a new cell and animal model of inflammatory breast cancer
3. Researchers uncover a viable way for colorectal cancer patients to overcome drug resistance
4. Researchers Find Gene Mutations That May Be a Key to Autism
5. Researchers find evidence of banned antibiotics in poultry products
6. NJ stroke researchers report advances in spatial neglect research at AAN Conference
7. Autism by the numbers: Yale researchers examine impact of new diagnostic criteria
8. Researchers Map Brain Regions Linked to Intelligence
9. Researchers ID Genes That May Determine Mental Illness
10. Researchers Develop Blood Test for Depression
11. University of Cincinnati researchers win $3.7M grant from US Department of Defense
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
Researchers Pinpoint Cause of Port-Wine Stain Birthmarks
(Date:10/1/2014)... October 1, 2014 Patients with increased inflammation, ... a greatly increased risk of depression. For example, ... chronic hepatitis C virus infection causes depression in ... acids, more commonly known as fish oil, have ... the risk of heart disease and reducing triglyceride ...
(Date:10/1/2014)... (PRWEB) October 01, 2014 Familylifeinsurancequotes.org ... find life insurance for senior citizens. , Senior ... Agencies will now sell coverage to seniors who are ... can be purchased without taking a medical examination. , ... purchased online and senior clients can qualify. Having life ...
(Date:10/1/2014)... 01, 2014 Bedros Keuilian is not ... Camp fitness boot camps, he’s also considered the leading ... with sold out business summits, a line of high-demand ... to a recent Spike TV reality show to his ... is the time for personal trainers and fitness business ...
(Date:10/1/2014)... Phoseon Technology, the pioneer in developing ... the business worldwide. This rapid growth includes increased hiring ... manufacturing efforts. The company has experienced average annual growth ... expects this growth to continue in the future as ... adoption. , “We are very pleased that ...
(Date:10/1/2014)... ST. LOUIS, MO (PRWEB) October 01, 2014 ... up for Castlewood Eating Disorder Treatment Center’s first ever charity ... provides grants for people with eating disorders who cannot afford ... Fox Run Golf Club in Eureka, Mo. , The ... time at noon. A reception and award dinner will begin ...
Breaking Medicine News(10 mins):Health News:Omega-3 fatty acids may prevent some forms of depression 2Health News:Affordable Term Life Insurance - Senior Citizens Can Qualify for Coverage! 2Health News:Bedros Keuilian Shares Tips on Selling Personal Training for the Holidays 2Health News:Bedros Keuilian Shares Tips on Selling Personal Training for the Holidays 3Health News:Phoseon Technology Continues to Drive Growth Worldwide 2Health News:Project HEAL Benefit Golf Tournament Gaining Momentum 2Health News:Project HEAL Benefit Golf Tournament Gaining Momentum 3
... citrus fruits rich in Vitamin C such as papaya, oranges ... research has found that the nutrient could help reduce ... ,Researchers from the University of Warwick have found that the ... in diabetics. ,Free radicals are tissue-damaging molecules, and ...
... and smoke-free work environment play key roles in helping people ... a study has found. ,The study was ... environmental factors are more influential than individual behaviours and beliefs ... researcher Jon Macy, said that though smoking cessation attempts often ...
... , ... ... ... clutches? Even fetuses in wombs experience stress! Stress can stem from a variety of causes-relationships, job, school and daily activities-just about anything. ...
... Working in an environment where smoking is allowed is especially ... that is not considered safe at any level, a ... by researchers at the Multnomah County Health Department and Oregon ... elevated levels of the carcinogen NNK, which is found in ...
... led by a Children's Hospital of Eastern Ontario (CHEO )researcher ... to vitamin D deficiency Rickets. Despite the fact that generation ... supplements and sunshine, vitamin D deficiency rickets has persisted in ... disease that weakens the leg bones and stunts growth, the ...
... death rates for men from the rural areas are 10 ... ,Despite The fact that cancer survival rates are improving overall, ... death rate of men living in rural areas and their ... in Australia has risen from 78,857 new cases in 1996 ...
Cached Medicine News:Health News:Smoke-free Workplace, Non-smoking Spouse Help Quitters Stay Off the Butt 2Health News:Living With Stress 2Health News:Living With Stress 3Health News:Living With Stress 4Health News:Secondhand Workplace Smoke Hits Non-smokers Badly 2Health News:Vitamin D Deficiency Still Persists in Babies 2Health News:Cancer Deaths of Rural Men on the High 2
(Date:10/2/2014)... --  Intarcia Therapeutics, Inc. today announced successful top-line ... trials for ITCA 650 (exenatide, delivered continuously once or ... first trial, FREEDOM-1, was a placebo-controlled, double-blind phase 3 ... ITCA 650 in patients with type 2 diabetes against ... superior to placebo for both 40 mcg and 60 ...
(Date:10/1/2014)... BOSTON , Oct. 1, 2014   ... market-leading provider of Anesthesia Information Management Systems (AIMS), ... Systems, LLC , a wholly owned subsidiary of ... healthcare information systems and connectivity solutions.  ... http://photos.prnewswire.com/prnh/20140930/149407 This partnership ...
(Date:10/1/2014)... SAN DIEGO , Oct. 1, 2014  ResMed (NYSE: ... people sleep and the first company to design complete sleep ... to educate women about the importance of a good night,s ... initiative will challenge the myth that feeling tired is just ... to understand that sleep is a critical pillar of health, ...
Breaking Medicine Technology:Intarcia Announces Two Positive Phase 3 Trials for ITCA 650 in Type 2 Diabetes: FREEDOM-1 and FREEDOM-1 High Baseline (HBL) Study Results 2Intarcia Announces Two Positive Phase 3 Trials for ITCA 650 in Type 2 Diabetes: FREEDOM-1 and FREEDOM-1 High Baseline (HBL) Study Results 3Intarcia Announces Two Positive Phase 3 Trials for ITCA 650 in Type 2 Diabetes: FREEDOM-1 and FREEDOM-1 High Baseline (HBL) Study Results 4Intarcia Announces Two Positive Phase 3 Trials for ITCA 650 in Type 2 Diabetes: FREEDOM-1 and FREEDOM-1 High Baseline (HBL) Study Results 5Plexus IS' Anesthesia Documentation Solution Strengthens NextGen Healthcare Product Offering 2Plexus IS' Anesthesia Documentation Solution Strengthens NextGen Healthcare Product Offering 3ResMed Launches Initiative to Help Women Get Better Sleep 2ResMed Launches Initiative to Help Women Get Better Sleep 3
Human based material available in two levels for the control of accuracy and precision for upto 23 analytes....
Human based assayed sera available in three levels for the control of accuracy and precision for up to 25 analytes...
The AMY method used on the Dimension clinical chemistry system is an in vitro diagnostic test intended for the quantitative determination of amylase activity in serum, plasma and urine....
Enzymatic Clearance assay for the in vitro quantitative determination of LDL-cholesterol in human serum and plasma....
Medicine Products: