Navigation Links
John Hopkins Develops An Online Tool To Help In Research Of Certain Rare Diseases

The research team from Johns Hopkins and made available on the World Wide Web - a database of all genes known to contribute to cilia operations in the body. //

The researchers had earlier identified flaws in the work of minute, hair-like structures on the surface of cells called cilia as such a common link. They had explained that the so called 'orphaned diseases' all have links associated with the tiny, hair-like cilia and implications for common disorders.

The researchers had explained that many people are bothered with rare illnesses of unknown cause, and finding a common link to such rare and less studied or 'orphaned' diseases, like Bardet-Biedl, Alstrom and Meckel-Gruber syndromes can significantly advance the search for causes and treatment.

'It was hard labour but worth it to help accelerate research and drive the development of potential drug targets and cures for these diseases,' says the project's leader, Nicholas Katsanis, Ph.D., an associate professor of molecular biology and genetics and ophthalmology at the McKusick-Nathans Institute of Genetic Medicine at Hopkins.

'But what's equally exciting is that the database should also advance the understanding of much more common diseases, because abnormal cilia are looking as if they have a role in these as well,' he adds.

The new Web-based resource will be described online Aug. 29 at Nature Genetics and will be freely available to all researchers.

'In recent years it's become clear that there is a broad spectrum of human disorders - including polycystic kidney disease and left-right axis defects, for example - that share similar clinical problems and cilia malfunctions,' says Katsanis.

Cilia are organelles whose main function was once thought confined to helping one-celled organisms propels themselves around. Although they had been observed in many tissues in humans and other mammals, some researchers considered them 'vestigia l', an evolutionary relic from our progenitors. But a small band of investigators, including Katsanis at Hopkins, have begun to assign function to cilia in numerous cell types in the human body and speculate that 'anything so highly conserved by evolution is likely critical for survival.'

Work by Katsanis' group as well as others in the field shows that more than 1,000 genes are known to play a role in cilia. Some genes contribute to their structure, others contribute to function and yet others only have been implicated in some sort of cilia-related role.

'There's a lot we still don't know about cilia, and much work needs to be done,' says Katsanis. 'But this new database consolidates a considerable volume of knowledge floating around out there, and we hope it will focus not only our research but others, as well to speed our way to better treating these patients.'

Bardet-Biedl, Alstrom and Meckel-Gruber patients share similar symptoms, including kidney problems, vision problems and cognitive dysfunction.

Although all are marked by aberrant cilia, the different symptoms associated with each syndrome affect individual patients differently. Many patients first go to the doctor because they experience vision problems, and they are treated for those vision problems. But the patients may be unaware that they are experiencing other problems - dubbed sub-clinical - such as slow kidney failure.

Studying the genes involved is expected to shed light on how cilia function. And a better understanding of normal cilia function, according to Katsanis, will lead to a better understanding of what goes wrong when cilia don't function. 'Having a good handle on genes may lead to future genetic tests that can help doctors better diagnose and treat these syndromes,' he says.

'Studying the genetics, heritability and molecular underpinnings of Bardet-Biedl syndrome uncovered the role of cilia in this and other syndromes ,' says Katsanis. 'The clinic informing the science got us where we are today. Now we have the tool to enable the science to go back and inform the clinic.'

Source: EurekAlert.
VIK
'"/>




Related medicine news :

1. John Hopkins CGHH program provides Global Health education
2. A new study by John Hopkins University proposes formula for good health
3. Genetic Experts of Hopkins Assists In Identifying Hurricane Katrina Victims
4. Craig Newschaffer of Johns Hopkins Bloomberg School of Public Health in Baltimore.
5. Diabetes - New Treatment Approach At John Hopkins
6. Cardiovascular Diseases in India To be Studied Jointly By John Hopkins And Apollo Hospitals
7. Johns Hopkins Computer Scientists Unravel Language Of Surgery
8. Gene Hunters at Johns Hopkins Close In On Lou Gehrigs Disease
9. Johns Hopkins Medicine Trustees Support Smoking Ban In Public Spaces
10. John Hopkins Hospitals- Now at Tokyo
11. Johns Hopkins Begins Aggressive Screening for superbugs in Children
Post Your Comments:
*Name:
*Comment:
*Email:


(Date:5/24/2016)... PA (PRWEB) , ... May 24, 2016 , ... ... manufacturer of safety signs and safety labels , has been ... “Understanding Symbols: Laser Labels.” , The eiXtra e-newsletter provides electroindustry professionals with manufacturer, ...
(Date:5/24/2016)... ... 2016 , ... Since 1946, the doctors and staff at Clifton Dental Associates ... patient arrives at the office, the staff will make them feel welcome and comfortable. ... create a complete dental treatment plan that is unique to each smile. , Dr. ...
(Date:5/24/2016)... ... ... PhysicianOne Urgent Care, advocators in helping their patients lead the healthiest lives possible, updates ... spring. , The official tick season kicks off in May across the states ... themselves to their prey while they feed off their blood. Like other similar biting ...
(Date:5/24/2016)... (PRWEB) , ... May 24, ... ... announcement of Essette Dashboard, its highly anticipated, web-based software module. The cutting-edge ... The application’s “secret sauce”? Integration with Izenda’s self-service business intelligence solution and ...
(Date:5/24/2016)... ... May 24, 2016 , ... NutraPre today announced the ... pregnant women to prevent morning sickness and promote overall heath. Engineered with advanced ... and taste of water. , “Imagine a pregnancy without morning sickness,” NutraPre CEO ...
Breaking Medicine News(10 mins):
(Date:5/23/2016)... , May 23, 2016   Purdue ... entered into an agreement with Egalet Corporation and ... claims. As part of the agreement the companies ... will enable all three companies to develop and ... "This agreement reflects the commitment of ...
(Date:5/20/2016)... - Revenue Forecasts And ... Hormones, Recombinant Coagulation Factors and Regenerative Medicine ... Study Reveals Selling Opportunities and Revenue Prospects to ... is the future of biologics, especially new drug ... analysis. Staying ahead in data and knowledge, you ...
(Date:5/19/2016)... , May 19,2016 Cellvizio ... Digestive Disease Week Meeting and 91 st ... Mauna Kea Technologies (Euronext: MKEA, OTCQX: MKEAY) ... platform, today announced that its Cellvizio platform is ... on gastroenterology during the month of May. The ...
Breaking Medicine Technology: