Navigation Links
Researchers looking at a rare disease make breakthrough that could benefit everyone
Date:2/28/2011

This release is available in French.

MONTREAL, March 1, 2011 By working with Canadians of French ancestry who suffer a rare genetic disease, researchers have discovered how three genes contribute to abnormal growth, making a breakthrough that will improve our understanding of many disorders such as foetal and childhood growth retardation, abnormal development of body parts and cancer. "As a result of the Human Genome Project, we know the basic identity of essentially all the genes in the human body, but we don't automatically know what they do in detail," explained lead researcher Dr. Mark Samuels of the University of Montreal's Department of Medicine and the Sainte-Justine University Hospital Research Centre. "It's like opening your car and seeing the parts, but not knowing what each one does. When a part breaks however, you learn how it fits with the rest of the machine. Working with people who have specific health or development problems linked to specific genes enables us to see how those genes contribute to our bodies' development and functioning."

In this case, the team of researchers characterized the molecular basis in patients who suffer from Meier-Gorlin Syndrome (MGS), a rare disorder that is characterized by short stature, small ears, and absent or underdeveloped knee-caps. The patients were mostly francophonic, coming from the Maritimes, Quebec, British Columbia as well as the Louisiana Cajun community. MGS is a classic "single gene disorder," meaning it is related to mutations in individual genes, although in the case of MGS different patients surprisingly seem to carry mutations in any of three different genes.

The genes are called ORC1L, ORC4L and CDT1, and are known to play a critical role in correct copying of DNA. Cells reproduce by dividing in two. All the chromosomes must also be duplicated. This process is tightly controlled to pre
'/>"/>

Contact: William Raillant-Clark
w.raillant-clark@umontreal.ca
514-343-7593
University of Montreal
Source:Eurekalert

Page: 1 2 3

Related biology news :

1. Researchers develop curious snapshot of powerful retinal pigment and its partners
2. 20 researchers selected as 2011 Leopold Leadership Fellows
3. Researchers from Hebrew U., US discover how mercury gets into fish we eat
4. Canadian researchers first worldwide to generate pluripotent stem cells from horses
5. Researchers have found how brain cells control their movement to form the cerebral cortex
6. Cleveland Clinic researchers honored for contributions to science and technology
7. UT researchers crack code to harmful brown tides
8. Iowa State, Ames Lab researchers describe the pump that bacteria use to resist drugs
9. Researchers achieve a full film frame of a family of proteins essential for cell function
10. Researchers find local wildlife protection safeguards entire range
11. Stanford researchers develop new technology for cheaper, more efficient solar cells
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:12/15/2014)... --Research and Markets ( http://www.researchandmarkets.com/research/87pph8/global_facial ) ... Facial Recognition Market 2015-2019" report to their ... Facial recognition is a technology used ... measures the overall facial feature of a person ... distance between eyes. Facial recognition is used for ...
(Date:12/11/2014)... , Dec. 10, 2014  Data Sciences ... monitoring, has released a new series of digital ... preclinical toxicology researchers. M series, part of the ... collect the best possible physiologic data when incorporating ... Adding functional endpoints to toxicology studies has evolved ...
(Date:12/10/2014)... , Dec. 9, 2014 CIE San ... catalyst that provides the connective tissue that enhances care ... them to easily share client-level information; earned a second ... expand to organizations serving seniors aging in community and; ... partner on December 11 th 4-6p. ...
Breaking Biology News(10 mins):Global Facial Recognition Market 2015-2019: Key Vendors are 3M Cogent, Cognitec Systems, NEC and Safran Group 2Global Facial Recognition Market 2015-2019: Key Vendors are 3M Cogent, Cognitec Systems, NEC and Safran Group 3New telemetry implants expected to change how large animal toxicology studies are conducted 2Community Information Exchange San Diego Launches Pilot, Secures $1 Million Expansion Grant, and Becomes a "Live Well San Diego" Partner 2Community Information Exchange San Diego Launches Pilot, Secures $1 Million Expansion Grant, and Becomes a "Live Well San Diego" Partner 3Community Information Exchange San Diego Launches Pilot, Secures $1 Million Expansion Grant, and Becomes a "Live Well San Diego" Partner 4
... two Queens scientists has resulted in an exciting new method ... weapons and pesticides. Recently completed testing by an independent ... greater than 99 per cent effective when used on the ... in solution, full destruction of all three agents was achieved ...
... American farmers. In spite of their use in the ... freeze (19982004) on growing and importing transgenic crops., In ... by the recipient governments. The EUs stand on agricultural ... Unruh Snyder, Department of Agronomy, Purdue University, along with ...
... specialists for cancer treatment in developing countries is a driving ... change the health-care picture over time. The course - in ... the Asia and Pacific region through partners working with the ... of radiotherapy, which plays a positive role in the care ...
Cached Biology News:Queen's develops safe 'green' decontamination method 2Distance learning course in radiation oncology for cancer treatment 2
(Date:12/19/2014)... (PRWEB) December 19, 2014 In contrast ... of LEDs with various colors, Valoya uses proprietary LED ... This offers best possible uniformity which is critical in ... and high spectral accuracy throughout its lifetime which is ... LED tubes. , "The investment cost was clearly ...
(Date:12/19/2014)... 2014 With only 2 weeks left ... on Sartorius Biohit products . The product specials include ... Electronic Pipette Trade-in Program, and free pipette tips. , ... around the world. They are ideal for lab technicians ... ,     Full volume range of 0.1 uL ...
(Date:12/19/2014)... , Dec. 18, 2014 Egenix, Inc. is pleased ... elected Chairman of the Board, to succeed Donald Fresne ... but will continue as a member of the Board.  In ... added to the company over almost twenty years, the Board ... Board of Directors has established a Search Committee to find ...
(Date:12/19/2014)... 2014 Relmada Therapeutics, Inc. (OTCQB: RLMD), a ... chronic pain, announced the results of its annual general ... a transformational year in Relmada,s history and it set ... said Sergio Traversa , chief executive officer of ... key financial, human resource and clinical development objectives that ...
Breaking Biology Technology:Major Pipette Distributor Pipette.com Announces Sartorius Year End Specials 2Relmada Therapeutics Announces Results of Annual Shareholders Meeting 2
... FORT LAUDERDALE, Fla., Aug. 13 OmniComm Systems, ... data capture (EDC) solutions for clinical trials, today announced that ... Research Organization (CRO) to provide eClinical solutions for a pivotal ... studies serve to establish the safety and efficacy of investigational ...
... , ANNAPOLIS, Md., Aug. 13 PharmAthene, ... medical countermeasures against biological and chemical threats, today reported financial and ... 30, 2009. , , For the second quarter ... million in the same period of 2008. For the six ...
... CHENGDU, China, Aug. 13 /PRNewswire-Asia-FirstCall/ -- Tianyin,Pharmaceutical Co., ... and supplier of,modernized traditional Chinese medicine ("TCM") based in ... the Chinese State Food and Drug,Administration (SFDA) to produce ... number Z20093512) and Yinqiao Jiedu Tablets in,dosage form of ...
Cached Biology Technology:Leading European Contract Research Organization Selects OmniComm to Provide eClinical Solutions for Important Phase III Study 2PharmAthene Reports Second Quarter 2009 Financial and Operational Results 2PharmAthene Reports Second Quarter 2009 Financial and Operational Results 3PharmAthene Reports Second Quarter 2009 Financial and Operational Results 4PharmAthene Reports Second Quarter 2009 Financial and Operational Results 5PharmAthene Reports Second Quarter 2009 Financial and Operational Results 6PharmAthene Reports Second Quarter 2009 Financial and Operational Results 7PharmAthene Reports Second Quarter 2009 Financial and Operational Results 8Tianyin Pharmaceutical Co., Inc. Receives Chinese SFDA Approval for Sanqi Tablets and Yinqiao Jiedu Tablets 2Tianyin Pharmaceutical Co., Inc. Receives Chinese SFDA Approval for Sanqi Tablets and Yinqiao Jiedu Tablets 3
... 30 isolations. The kit provides a ... apoptotic cells from normal c lture using ... is a Ca2+-dependent phospholipid binding protein with ... Cell Isolation Kit provides a simple and ...
... diameter, 7 inch long PYREX NMR tubes are ... ground joints, valves, and vacuum racks. They are ... 300 to 500MHz. They have an O.D. of ... + 0.013-0.000mm. These NMR tubes can be used ...
Standard Fluka For microscopy (Hist.) redox indicator...
... The GenElute Gel Extraction Kit combines silica- ... or vacuum column format. DNA fragments of interest ... by solubilizing the gel. The Gel Solubilization Solution ... run in either TBE or TAE buffer. Extracted ...
Biology Products: