Navigation Links
Gene discovered for Weaver syndrome
Date:12/15/2011

iscovery, Dr. Gibson's team now offers sequencing of the EZH2 gene on a research basis in partnership with the Ottawa Hospital Research Institute. Dr. Gibson's team can be contacted by email at wtgibson@cfri.ubc.ca.

Traditionally, hunting for a disease-causing gene has relied on tracking a gene throughout a family's history. However, Weaver syndrome usually occurs only once in a family, as it is thought to be caused by a new genetic mutation in the sperm or egg that conceived the child. For this study, the investigators sought patients with Weaver syndrome from Canada and the United States. They approached Dr. David Weaver, who discovered the syndrome in 1974 and is professor emeritus of Medical and Molecular Genetics at Indiana University School of Medicine in Indianapolis. In two families that Dr. Weaver had examined, the Canadian team looked for brand new genetic mutations by comparing the DNA of affected children to DNA from their unaffected parents. Once the investigators identified EZH2 as a candidate gene, they sequenced it in DNA samples from a third Canadian family. They confirmed that an EZH2 mutation was in this third family's child but not in either of her healthy parents.

EZH2 is a cancer gene that is known to be mutated in leukemia, B-cell lymphomas and some other blood cancers. The gene helps control how DNA is packaged around specific proteins, which in turn helps to regulate which groups of genes are turned off and on.

"Our finding illuminates an emerging area of biology that links developmental syndromes and cancer," says Dr. Gibson. "It appears that some mutations in EZH2, if these occur early in life, produce developmental syndromes such as Weaver syndrome, whereas mutations in the same gene that occur later in life can produce cancer."

Dr. Steven Jones is the study's senior author who led the DNA sequencing and bioinformatics. He is head of bioinformatics and associate director of the Michael Smith Genome Sci
'/>"/>

Contact: Jennifer Kohm
jkohm@cfri.ca
604-875-2401
Child & Family Research Institute
Source:Eurekalert

Page: 1 2 3

Related medicine news :

1. Dual-acting class of antimalarial compounds discovered by Novartis with potential to prevent and treat malaria
2. A better way to count molecules discovered
3. Stop signal discovered for skin cancer
4. Protein discovered at LSUHSC may suppress breast cancer growth
5. Key function of mutation in hereditary breast and ovarian cancer gene discovered
6. Six new genetic variants linked to type 2 diabetes discovered in South Asians
7. New defense discovered against common hospital-acquired infection
8. Atomic structure discovered for a sodium channel that generates electrical signals in living cells
9. Cause of hereditary blindness discovered
10. Potential cause of severe sleep disorder discovered, implications for Parkinsons disease
11. Connection discovered between the nervous system and the vascular system
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:7/28/2014)... Cape Regional Medical Center, is ... technology solution in an effort to streamline its ... with their New Jersey health information exchange (NJSHINE). ... in New Jersey, serves the local population and ... of inpatient and outpatient services. With a strong ...
(Date:7/28/2014)... 28, 2014 (HealthDay News) --,The more chronic medical conditions ... expectancy may be, a new study claims. ... health issues, scientists at Johns Hopkins Bloomberg School of ... explain why gains in life expectancy are slowing in ... such as diabetes, kidney disease and heart failure is ...
(Date:7/28/2014)... Reinberg HealthDay Reporter MONDAY, ... and heart rhythm irregularities are more likely to get a ... In fact, the study of more than 16,000 people found ... likely to get a pacemaker than those without the memory-robbing ... why folks with dementia are so much more likely to ...
(Date:7/28/2014)... (PRWEB) July 28, 2014 Parker Waichman LLP, ... fighting to ensure that the heroes of 9/11 are never ... has announced an important deadline. According to a VCF ... with a covered cancer on or before October 12, 2012 ... 2014. First responders and others who were allegedly injured by ...
(Date:7/28/2014)... expecting somethinglike the meal you,ve ordered at a ... rhythms sweep through your brain. , These ... a symphony of cellsboth excitatory and inhibitoryplaying together ... been debated, gamma waves have been associated with ... have been tied to schizophrenia, Alzheimer,s disease, autism, ...
Breaking Medicine News(10 mins):Health News:Cape Regional Medical Center Chooses Summit Provider Exchange to Connect With NJSHINE and Physician Offices 2Health News:Cape Regional Medical Center Chooses Summit Provider Exchange to Connect With NJSHINE and Physician Offices 3Health News:Chronic Medical Conditions Can Shorten Seniors' Lives: Study 2Health News:Pacemakers Common for Those With Dementia and Irregular Heartbeats 2Health News:Pacemakers Common for Those With Dementia and Irregular Heartbeats 3Health News:October 12, 2014 Deadline Approaching for 9/11 First Responders Suffering from Certain Cancers to Submit Their Registration to the VCF, Parker Waichman LLP Comments 2Health News:October 12, 2014 Deadline Approaching for 9/11 First Responders Suffering from Certain Cancers to Submit Their Registration to the VCF, Parker Waichman LLP Comments 3Health News:Memory relies on astrocytes, the brain's lesser known cells 2Health News:Memory relies on astrocytes, the brain's lesser known cells 3
... in mice shows promise for possible use in treating Alzheimer's ... study. ,Alzheimer's disease is the most common form of ... speech deterioration, and behavioral changes. The main factor in the ... toxic to the brain. ,Researchers say they have found ...
... steps you take to prevent heart attack may also ... risk factors like high blood pressure and high cholesterol ... and can cause death of brain cells over time. ... designed to slow the progression of mixed dementia, vascular ...
... Researchers say most of the existing drugs on the ... are derived from soil bacteria hence researchers feel that ... miracle drugs.// ,More than 1 million microorganisms ... to a life-saving treatment for some of our deadliest ...
... have identified a protein that essentially blocks HIV replication, ... it is not as effective at stopping HIV, say ... issue of Nature. The team, headed by Joseph Sodroski, ... and Infectious Diseases (NIAID). ,"Identification of this ...
... have optic nerve damage are at increased risk for ... with visual impairment. The participants had their sleep-wakefulness cycles ... with those of 12 young subjects with normal sight. ... more likely to have daytime sleepiness than those with ...
... panoramic X-rays can identify postmenopausal women with low skeletal ... taken for the diagnosis of conditions affecting the teeth ... the mandibular cortical shape and width and refer the ... more than 300 women who had no symptoms of ...
Cached Medicine News:
(Date:7/28/2014)... Research and Markets  has announced the addition ... report to their offering. http://photos.prnewswire.com/prnh/20130307/600769 ... to inflammation and pain in the human body,s joints such ... causes inflammation of the tissues that surround the joints and ... RA begin slowly, usually just mild pain around the joints ...
(Date:7/28/2014)... -- Syneron Medical Ltd. (NASDAQ: ELOS ), a ... new PicoWay® device has received CE Mark indication to ... lesions on any skin type. PicoWay is a new ... wavelengths, which utilizes Syneron,s proprietary PicoWay technology to deliver ... of a second, known as picosecond pulses. Syneron will ...
(Date:7/28/2014)... -- Concord Medical Services Holdings Limited ("Concord Medical" or ... specialty hospital management solution provider and operator of the ... China , today announced that on ... special cash dividend of US$0.30 per ordinary share (or ... outstanding ordinary shares. The total expense for the special ...
Breaking Medicine Technology:Global Rheumatoid Arthritis Drugs Market 2014-2018 2Syneron Announces CE Mark for PicoWay Dual Wavelength Picosecond Laser for Tattoo Removal and Treatment of Pigmented Lesions 2Syneron Announces CE Mark for PicoWay Dual Wavelength Picosecond Laser for Tattoo Removal and Treatment of Pigmented Lesions 3Syneron Announces CE Mark for PicoWay Dual Wavelength Picosecond Laser for Tattoo Removal and Treatment of Pigmented Lesions 4Concord Medical Declares Special Dividend 2
... PORTSMOUTH, N.H., Aug. 4, 2011 Novocure, a ... it has entered into a long-term supply agreement ... engineering and manufacturing conglomerate ITT Corporation (NYSE: ITT). ... ceramic components used to manufacture the disposable electrodes ...
... Texas, Aug. 4, 2011 Healthpoint Biotherapeutics today ... clinical trial investigating the efficacy of HP802-247 in ... living cell suspension containing keratinocytes and fibroblasts. The ... of two cell concentrations and two dosing frequencies ...
Cached Medicine Technology:Novocure Announces Long-Term Supply Agreement With ITT Corporation for Ceramic Sensor Technology 2Novocure Announces Long-Term Supply Agreement With ITT Corporation for Ceramic Sensor Technology 3Positive Results for Phase IIb Trial of Unique Cell-Based Therapy in Venous Leg Ulcers 2Positive Results for Phase IIb Trial of Unique Cell-Based Therapy in Venous Leg Ulcers 3Positive Results for Phase IIb Trial of Unique Cell-Based Therapy in Venous Leg Ulcers 4
The latex free, hydrophilic Self-Cath Plus is designed for single use, intermittent self-catheterization. The unique hydrophilic coating activates immediately upon exposure to water for fast, clean...
... Closed System is a latex-free unisex ... safe, simple catheterization designed to reduce ... It includes a 100% latex-free ... EasyOff tear tab makes it easy ...
... The Self-Cath Closed System is a ... method for safe, simple catheterization designed ... tract infections. It includes a ... The new EasyOff tear tab makes ...
... The Self-Cath family ... offers patients a variety ... self-catheterization. Each catheter ... medical grade PVC and ...
Medicine Products: