[PHNUTR-L] Hopkins develops online tool to aid research on certain 'orphan diseases'

[Kathrynne Holden, MS, RD]

Colleagues, the following is FYI and does not necessarily reflect my own
opinion. I have no further knowledge of the topic. If you do not wish to
receive these posts, set your email filter to filter out any messages
coming from   @nutritionucanlivewith.com    and the program will remove
anything coming from me.
---------------------------------------------------------
Public release date: 28-Aug-2006
http://www.eurekalert.org/pub_releases/2006-08/jhmi-hdo082706.php

Contact: Audrey Huang
Audrey at jhmi.edu
410-614-5105
Johns Hopkins Medical Institutions

Hopkins develops online tool to aid research on certain 'orphan diseases'

All have links to tiny, hair-like cilia and implications for common 
disorders

Many people are afflicted with rare illnesses of unknown cause, and 
finding a common link to such under-studied or "orphaned" diseases as 
Bardet-Biedl, Alstrom and Meckel-Gruber syndromes can significantly 
advance the search for causes and treatment. Now, the same Johns Hopkins 
research team that first identified flaws in the work of tiny, hair-like 
structures on the surface of cells called cilia as such a common link 
has compiled - and made available on the World Wide Web - a database of 
all genes known to contribute to cilia operations in the body.

"It was hard labor 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 propel themselves around. Although they had 
been observed in many tissues in humans and other mammals, some 
researchers considered them "vestigial," 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."

###

The researchers were funded by the National Institute of Diabetes, 
Digestive and Kidney Disorders and by the National Institute of Child 
Health and Development branches of the National Institutes of Health.

On the Web:

www.ciliaproteome.org

http://www.hopkinsmedicine.org/geneticmedicine/index.html

http://www.hopkinsmedicine.org/geneticmedicine/People/Faculty/katsanis.html
-- 
Kathrynne Holden, MS, RD < fivestar at nutritionucanlivewith.com >
"Ask the Parkinson Dietitian"  http://www.parkinson.org/
"Eat well, stay well with Parkinson's disease"
"Parkinson's disease: Guidelines for Medical Nutrition Therapy"
http://www.nutritionucanlivewith.com/