HOME >> MEDICINE >> NEWS
In 15 seconds, new test will ID presence of 25 most common mutations of cystic fibrosis

(Philadelphia, PA) -- "Eighty percent of all babies born in the US that have cystic fibrosis (CF) are born to parents with no previous family history." This attention-getting quote, used frequently by an activist in the CF community, makes it powerfully clear what few people realize: that both parents did not know they would pass on to their child the life-altering CFTR gene, the gene mutated in cystic fibrosis. In fact, the Cystic Fibrosis Foundation estimates that more than 10 million Americans are unknowing, asymptomatic carriers of CF, which causes a thickening mucous to surround the lungs and serves as a catalyst for multiple, life-threatening infections throughout a lifetime.

Background

Approximately 30,000 children and adults in the US suffer from CF. In the Caucasian population, where it is most prevalent, one in 30 white Americans carry the mutated gene in their genome but do not manifest the disease. When one carrier with a certain disease allele mates with another who carries the identical disease allele, a process of recombination produces an offspring with the double mutation necessary to cause the disease. One in 3,000 live births has CF today.

CF has more than 1,000 currently known mutations and additional mutations are being discovered regularly. Most of the mutations are "private," running only in families and not outside a specific group. When the mutations exist within the family, many members will have it, the reason why so few common mutations exist.

The American College of Obstetrics and Gynecology (ACOG), American College of Medical Geneticists (ACMG) and National Institutes of Health (NIH) last year recommended that all individuals considering conception be screened for the presence of a mutated CF gene. The group examined all known mutations and identified those most prevalent for each ethnic group, and have recommended screening for the 25 which are most likely to occur (the "ACOG 25"). Each of the 2
'"/>

Contact: Donna Krupa
djkrupa1@aol.com
703-527-7357
American Association for Clinical Chemistry
21-Jul-2003


Page: 1 2 3

Related medicine news :

1. UCLA Medical Center becomes first hospital to introduce remote presence robots in ICU
2. Study suggests widespread environmental presence of Enterobacter sakazakii
3. Tight rules, police presence may limit use of Vancouvers new drug injection facility
4. Partners presence associated with lower blood pressure
5. Why asthma sufferers struggle with the common cold
6. Use of potentially inappropriate medications among elderly common in some European countries
7. Adverse drug events in nursing homes are far more common than previously identified
8. Herbal extract as effective as commonly prescribed anti-depressant
9. Clinicians report missing patient information is common
10. Depression caused by common treatment for hepatitis C may affect outcome
11. FDA approves Pfizers Lyrica for the treatment of the two most common forms of neuropathic pain

Post Your Comments:
*Name:
*Comment:
*Email:


(Date:10/12/2017)... ... October 12, 2017 , ... IsoComforter, Inc. ( https://isocomforter.com ), one ... an innovative new design of the shoulder pad. The shoulder pad provides optimal ... controlling your pain while using cold therapy. By utilizing ice and water that is ...
(Date:10/12/2017)... ... October 12, 2017 , ... Information about the ... to develop to enable prevention of a major side effect of chemotherapy in ... in pediatric patients. For cisplatin, hearing loss is FDA listed on-label as a ...
(Date:10/12/2017)... ... October 12, 2017 , ... Leading pediatric oncology experts at Children’s National ... 49th Congress of the International Society of Paediatric Oncology (SIOP) Oct. 12-15. ... for Cancer and Blood Disorders at Children’s National, and Stephen P. Hunger, M.D., ...
(Date:10/12/2017)... (PRWEB) , ... October 12, 2017 , ... ... (HLA), the nation's first interactive health literacy software tool, and the Cancer Patient ... aspects of cancer patient education, today announce a new strategic alliance. , ...
(Date:10/12/2017)... ... October 12, 2017 , ... ... University of California Berkeley, and other leading institutions in announcing the launch of ... institutions to change the way animals are raised for food. , Founding members ...
Breaking Medicine News(10 mins):
(Date:10/4/2017)... Centers for Disease Control and Prevention (CDC), influenza vaccination should take ... communities across Massachusetts , Connecticut , ... through the end of the month. *Some exclusions apply ... ... by the end of October, according to the Centers for Disease Control ...
(Date:10/2/2017)...  AllianceRx Walgreens Prime, the combined central specialty pharmacy ... benefit manager Prime Therapeutics LLC (Prime), today officially began ... unveiling of new signage at its headquarters in ... a few other company-owned facilities across the country. This ... of whom will begin to see the AllianceRx Walgreens ...
(Date:9/28/2017)... 28, 2017 Cohen Veterans Bioscience and Early ... of wearable and home sensors for real-time monitoring of ... Foundation, a nonprofit organization focused on disruptive health solutions ... affordable analytical system to record and integrate behavioral, cognitive, ... ...
Breaking Medicine Technology:
Cached News: