Navigation Links
Researchers identify first drug targets in childhood genetic tumor disorder
Date:5/24/2013

Two mutations central to the development of infantile myofibromatosis (IM)a disorder characterized by multiple tumors involving the skin, bone, and soft tissuemay provide new therapeutic targets, according to researchers from the Icahn School of Medicine at Mount Sinai. The findings, published in the American Journal of Human Genetics, may lead to new treatment options for this debilitating disease, for which the only current treatment option is repeated surgical removal of the tumors.

IM is an inheritied disorder that develops in infancy or even in utero and tumors continue to present throughout life. The tumors do not metastasize, but can grow large enough to invade the tissue surrounding them causing physical limitations, disfiguration, bone destruction, intestitinal obstruction, and even death. Currently, the standard of care is to excise the tumors when possible, which can be invasive, painful, and disfiguring, and most patients require multiple surgeries throughout their lives.

Led by John Martignetti, MD, PhD, Associate Professor of Genetics and Genomic Sciences, Oncological Sciences, and Pediatrics and other researchers at the Icahn School of Medicine at Mount Sinai and Hakon Hakonarson, MD, PhD at the Children's Hospital of Philadelphia, the global research team gathered blood samples from 32 people from nine different families affected by the disease and performed whole-exome sequencing, a type of genomic sequencing where all protein coding regions of the genome, called the exome, are analyzed. They identified mutations in two genes: PDGFRB and NOTCH3.

"We are very excited about the findings of this study, which started 10 years ago with the enrollment of the first family," said Dr. Martignetti. "The newest developments in sequencing technology have led to a new breakthrough in understanding this debilitating disease and we can therefore begin identifying drug-based treatments to save lives for some and avoiding the
'/>"/>

Contact: Mount Sinai Press Office
newsmedia@mssm.edu
212-241-9200
The Mount Sinai Hospital / Mount Sinai School of Medicine
Source:Eurekalert

Page: 1 2

Related medicine news :

1. Researchers find common childhood asthma unconnected to allergens or inflammation
2. Researchers identify networks of neurons in the brain that are disrupted in psychiatric disease
3. Fish Oil Pills Might Cut Diabetes Risk, Researchers Say
4. Researchers find genetic risk factor for pulmonary fibrosis
5. Researchers find genetic tie to improved survival time for pulmonary fibrosis
6. Leading researchers report on the elusive search for biomarkers in Huntingtons disease
7. Dissertation Clinic Prescribes Customized Remedy for Researchers
8. AGA honors distinguished clinicians, researchers and educators with prestigious recognition awards
9. Moffitt Cancer Center researchers analyze how Spanish smoking relapse booklets are distributed
10. Researchers say they are shocked by new statistics on head injuries among people who are homeless
11. A Premium Service for Researchers Launched in Switzerland
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:7/24/2014)... iFitDress.com, a renowned wedding dress manufacturer ... casual party dresses . According to the company’s ... now offered at discounted prices, up to 59% off. ... August 04. , Most of the casual party ... market. They are popular for special designs, delicate craftsmanship ...
(Date:7/24/2014)... at night, which shuts off nighttime production of the ... a widely used breast cancer drug, says a new ... The study, "Circadian and Melatonin Disruption by Exposure to ... in Breast Cancer," published in the journal Cancer ... is vital to the success of tamoxifen in treating ...
(Date:7/24/2014)... 2014 The report, “Content Delivery ... market into various sub-segments with an in-depth analysis ... drivers and restraints for this market with insights ... market data tables and 36 figures spread through ... Networks (CDN) Market” at http://www.marketsandmarkets.com/Market-Reports/content-delivery-networks-cdn-market-657.html . ...
(Date:7/24/2014)... HealthDay Reporter THURSDAY, July 24, 2014 (HealthDay News) ... wrong, according to a small study that asked boys what they ... between the ages of 14 and 16, researchers found that most ... and trust. Very few boasted about sexual conquests or saw sex ... "In our culture, we have lots of assumptions about how ...
(Date:7/24/2014)... Pools and beaches are the place to ... dangerous, especially for small children, so Amica Insurance ... to the Centers for Disease Control and Prevention, children between ... for water-related injuries and deaths. It’s important to know the ... Amica is offering the following tips from the American Red ...
Breaking Medicine News(10 mins):Health News:2014 Casual Party Dresses for Chic Ladies Now at iFitDress.com 2Health News:Total darkness at night is key to success of breast cancer therapy -- Tulane study 2Health News:CDN Market by Delivery Technologies & Solutions Expected to Reach $12.16 Billion by 2019 - New Report by MarketsandMarkets 2Health News:CDN Market by Delivery Technologies & Solutions Expected to Reach $12.16 Billion by 2019 - New Report by MarketsandMarkets 3Health News:CDN Market by Delivery Technologies & Solutions Expected to Reach $12.16 Billion by 2019 - New Report by MarketsandMarkets 4Health News:Teenage Boys Want Intimacy, Not Just Sex, Survey Finds 2Health News:Teenage Boys Want Intimacy, Not Just Sex, Survey Finds 3Health News:Keep Kids Safe in the Water with 5 Tips from Amica 2
... suggests ways for FDA to beef up its oversight, , ... misled by the health claims made on the packaging of ... Institute of Medicine, because those claims do not undergo the ... A box of cereal that proclaims the breakfast food will ...
... ... with massage therapy , ... Scottsdale, AZ (PRWEB) May 12, 2010 -- Fibromyalgia has quickly gone from being ... conditions in American medicine. New treatments, medications and preventions are being developed every year ...
... ... with International Medical Group® (IMG®) to serve overseas missionaries. Each year Good ... focus is caring and honest service. IMG serves the needy in our ... mission sending organizations. Good Neighbor Insurance and IMG are particularly proud of ...
... disagree whether behavior describes a true addict , WEDNESDAY, May ... real problem in some people, causing them to engage in ... , The career of professional golfer Tiger Woods took a ... dozen women. Former New York Mets general manager Steve Phillips ...
... ... video conferencing solutions , ... Buffalo, NY (PRWEB) May 12, 2010 -- VoIP Supply, LLC North America’s leading ... introduction of video conferencing solutions to its base of over 75,000 customers. The initial ...
... “Choose ... ... -- Addressing the country’s obesity crisis, President Obama has declared May to be National ... attention to this complex problem. President Obama, in his proclamation, is asking ...
Cached Medicine News:Health News:Health Claims on Foods May Not Be Well-Grounded 2Health News:Health Claims on Foods May Not Be Well-Grounded 3Health News:Massage Envy Offers Relief for Fibromyalgia Sufferers 2Health News:Massage Envy Offers Relief for Fibromyalgia Sufferers 3Health News:Serving the World With Specialized Insurance for Missionaries 2Health News:Serving the World With Specialized Insurance for Missionaries 3Health News:Serving the World With Specialized Insurance for Missionaries 4Health News:The 'Reality' of Sex Addiction Stirs Debate 2Health News:The 'Reality' of Sex Addiction Stirs Debate 3Health News:VoIP Supply Launches Video Conferencing Solutions 2Health News:Dealtaker.com Shows Support for White House National Health and Fitness Initiatives 2
(Date:7/24/2014)... 24, 2014  Alimera Sciences, Inc. (NASDAQ: ... the research, development and commercialization of prescription ophthalmic pharmaceuticals, ... of fiscal year 2014 financial results after the market ... call will follow on the same day at 4:30 ... be hosted by Dan Myers , President and ...
(Date:7/24/2014)... KIRKLAND, Wash. , July 24, 2014 ... exhibiting at the 2014 National Association of State Veterans ... Carolina . The goal of the NASVH is ... receives the benefits, services, long term health care and ... sacrifice. With the InSite® Remote Dispensing ...
(Date:7/24/2014)... 2014 Consolidated Net Profit increased by 43.65 ...   , India Business grew by 20.87% to Rs. ... 4,886.70 Mn Rest of World (ROW) Business grew by ... by 34.53% to Rs. 977.26 Mn Latin America Business ... Glenmark Pharmaceuticals Limited, the research-led global integrated pharmaceutical company, today ...
Breaking Medicine Technology:Alimera Sciences To Release Second Quarter 2014 Results 2Talyst Exhibits at the National Association of State Veterans Homes Summer Conference 2Glenmark's Consolidated Revenue Increases by 20.08% to Rs. 14,869.40 Mn for Q1 FY 14 - 15 2Glenmark's Consolidated Revenue Increases by 20.08% to Rs. 14,869.40 Mn for Q1 FY 14 - 15 3Glenmark's Consolidated Revenue Increases by 20.08% to Rs. 14,869.40 Mn for Q1 FY 14 - 15 4
... Inc. (OTC Bulletin Board: HEWA), a ... a wholly-owned subsidiary of Huntington Bancshares Incorporated (Nasdaq: ... announced today a partnership that will give customers across ... HealthWarehouse.com will be added to the prescription ...
... 2011 On Wednesday, February 16, 2011, at ... members of Cell Therapeutics, Inc.,s (CTI) (Nasdaq and ... call to discuss the Company,s 2010 fourth quarter ... February 168:30 a.m. Eastern/2:30 p.m. Central European/5:30 a.m. ...
Cached Medicine Technology:HealthWarehouse.com and Huntington Insurance Partner to Help Self-Insured Employers in the Midwest Save on Prescription Medications 2
This stain is the McNeal formula and can be substituted for Wright Stain solution....
This Wright-Giemsa is a dual-use stain for peripheral blood and bone marrow smears. It produces somewhat darker results when compared with Giemsa, particularly in the blue to magenta shades....
Albumin (BCG). Storage temp: 15 -30 C. Linearity: 0.5 - 6.0 g/dl. Expected values: 3.5 - 5.5 g/dl. Available with calibrator. Performs 500 number of tests....
ASAT (GOT) FS (IFCC mod). For determination of ASAT (GOT) in serum or plasma. For Hitachi 717. Controls: Trulab N and Trulab P....
Medicine Products: