Navigation Links
UCSF team describes genetic basis of rare human diseases
Date:7/8/2011

Researchers at the University of California, San Francisco and in Michigan, North Carolina and Spain have discovered how genetic mutations cause a number of rare human diseases, which include Meckel syndrome, Joubert syndrome and several other disorders.

The work gives doctors new possible targets for designing better diagnostics to detect and drugs to treat these diseases, which together affect perhaps one in 200 people in the United States.

On the surface, these diseases look very different. Meckel syndrome causes deadly brain malformations and kidney cysts. Joubert syndrome strikes people with severe movement disorders. But the work of the UCSF-led team, published this week in the journal Nature Genetics, found similarities between the diseases at the molecular level.

"We think these diseases have a common underlying cause," said UCSF developmental biologist Jeremy Reiter. "They are fundamentally caused by defects in 'antenna' on cells."

Seen in Twins from Bangladesh

Technically known as cilia, these antennae are protrusions that dangle off cells and, like tiny receivers, allow the cells to explore and interact with their environment. Found everywhere from the brain to the eyes to the lungs in humans, these antennae also exist in creatures as diverse as gorillas, gnats, aardvarks and algae.

What cilia do depends on where they are in the body. In the eyes or deep within the nostrils, they are covered with sensory proteins and help capture light and odors, forming the basis of our senses of sight and smell. In the lungs, cilia move, helping to expel foreign particles from the airways. They also lend mobility to sperm.

This wide range of functions is also reflected in people with genetic disorders like Joubert syndrome, which affects cilia in specific parts of their body. People with these diseases suffer symptoms related to what those cilia do, such things as blindness, infertility or
'/>"/>

Contact: Jason Socrates Bardi
jason.bardi@ucsf.edu
415-502-6397
University of California - San Francisco
Source:Eurekalert  

Page: 1 2

Related medicine news :

1. Report describes the physics of the bends
2. Study describes health effects of occupational exposures in Paducah Gaseous Diffusion Plant workers
3. Certain genetic profiles associated with recurrence-free survival for non-small cell lung cancer
4. Obstructive Sleep Apnea in Kids May Have Genetic Cause
5. Epigenetic signals differ across alleles
6. Study reveals genetic link between mammographic density and breast cancer
7. Genetic Risk Score Doesnt Spot Heart Trouble in Women
8. Penn researchers find genetic link to leukemias with an unknown origin
9. Scientists Spot Genetic Fingerprints of Individual Cancers
10. Genetic health risks in children of assisted reproductive technology
11. Genetic Mutation Linked to Prostate Cancer in Blacks
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
UCSF team describes genetic basis of rare human diseases
(Date:7/31/2014)... Parsippany, NJ (PRWEB) July 31, 2014 A ... millions of people survive cancer and resume normal lives. This ... American Cancer Society, will affect one in seven American men ... are, has a five-year survival rate of nearly 100% and ... serious illness but most men diagnosed with the disease do ...
(Date:7/31/2014)... USHIO America’s Solid State Lighting ... lighting marketplaces, today announced the launch of its ... users to transform existing, inefficient lamp-based downlights to ... USHIO America’s Uphoria LED downlight retrofit kits fit ... the user to upgrade old incandescent recessed lighting ...
(Date:7/31/2014)... 2014 When guests shop CVS, they’ll find ... to Shea Moisture. And now CVS is adding another acclaimed ... August 1, guests will find G Natural products in CVS ... investment, CEO Roger Gore was inspired to start G’Natural Herbal ... and developing a receding hairline; he tried many products on ...
(Date:7/30/2014)... Calling all runners in the Richmond, VA region. , Tidewater ... monthly Runner’s Injury Clinic at the Glen Allen ... Monday of each month through the end of the year ... December 8. , The clinics run from 5:30 to ... and attire, will receive a complimentary evaluation of running injuries ...
(Date:7/30/2014)... (PRWEB) July 31, 2014 WalkingSticksandCane.com ... Walking Canes. The ladies will love the new European fashions ... Sticks . These sticks and canes are from one from ... England. Each of the styles re unique and offer the ... , The Blackthorn Walking Sticks are some of the rarest ...
Breaking Medicine News(10 mins):Health News:Restoring Intimacy after Prostate Cancer; Dr. Daniel Watter with Morris Psychological Group Offers Tips for Patients and their Partners 2Health News:Restoring Intimacy after Prostate Cancer; Dr. Daniel Watter with Morris Psychological Group Offers Tips for Patients and their Partners 3Health News:Restoring Intimacy after Prostate Cancer; Dr. Daniel Watter with Morris Psychological Group Offers Tips for Patients and their Partners 4Health News:USHIO America Introduces Uphoria™ LED Downlight Retrofit Kits 2Health News:CVS Caremark Adds New, Natural Acclaimed Hair Care Line to its Beauty Roster 2Health News:Tidewater Physical Therapy to Host Monthly Runner’s Injury Clinic at 3 Sports Glen Allen Location 2Health News:Tidewater Physical Therapy to Host Monthly Runner’s Injury Clinic at 3 Sports Glen Allen Location 3Health News:European Walking Sticks from WalkingSticksandCane.com 2
... may be sharply divided in their views on many aspects ... in strong agreement when it comes to one of the ... According to results of the American College of Surgeons (ACS) ... support the establishment of a nationwide trauma system - including ...
... Most pregnant women consuming a typical,western diet obtain too ... which is critical for fetal and infant brain,development. This ... panel of nutrition experts summarized in the September 2007,Fats ... called,for pregnant and lactating women to consume at least ...
... a Top ... Priority at Newton-Wellesley, RESTON, Va. and ... announced Newton-Wellesley,s use of,the Isabel decision support system to aid ... the implementation,kicks off an initiative to affirm the quality of ...
... MESA, Ariz., Oct. 3 The Well Life Center ... and healthcare,education, announces the launch of its "10 Healing ... Donations benefit The Arizona,Special Olympics. This session will ... using the 10 universal laws. Discover how to set ...
... Prism Pharmaceuticals,Inc., a privately-held, specialty pharmaceutical company committed ... the appointment of Maurits W. Geerlings, MD, MBA, ... "I am pleased to welcome Dr. Geerlings to ... brings a tremendous amount of relevant,industry experience and ...
... Recently, a man, traveling on,business to Scranton, ... by,ambulance to Moses Taylor Hospital where clinicians identified ... recent seizure, the patient was unable to,communicate his ... registration, a form automatically printed out in the ...
Cached Medicine News:Health News:A nation divided over health care? Not so fast 2Health News:Brain, Eye and Heart Health: Three Reasons to Eat More Omega-3s 2Health News:Newton-Wellesley Hospital First in Massachusetts to Implement Isabel Diagnosis Decision Support System 2Health News:Newton-Wellesley Hospital First in Massachusetts to Implement Isabel Diagnosis Decision Support System 3Health News:Moses Taylor Hospital Automates Medication Reconciliation 2
(Date:7/30/2014)... -- DigiPath, Inc. (OTCBB and OTCQB: DIGP), a digital pathology ... and education markets, announced today that has been no ... disclosed or, to its knowledge, any other reason to ... "We have noticed unusual price and volume increases for ... Steve Barbee , CEO of DigiPath. "While we ...
(Date:7/30/2014)...  Lightlake Therapeutics Inc. ("Lightlake") (OTCQB: LLTP), a ... expertise in opioid antagonists, announced today that it ... international research and development foundation. The ... initiatives, including those addressing health issues. Lightlake has ... of naloxone that could widely expand its availability ...
(Date:7/30/2014)... , July 30, 2014   Bluegrass ... focused on innovating lifesaving devices and methods for ... million in Series A financing, which was led ... from the deal will allow Bluegrass Vascular to ... Catheter System, enhance manufacturing capabilities, and proceed with ...
Breaking Medicine Technology:DigiPath No New Corporate Developments 2Lightlake Therapeutics Inc. Receives Funding Commitment From A Prominent International Research And Development Foundation 2Lightlake Therapeutics Inc. Receives Funding Commitment From A Prominent International Research And Development Foundation 3Bluegrass Vascular Technologies Raises $4.5M Series A Financing Led By Targeted Technology Funds 2
... WASHINGTON, Nov. 1 Multiple myeloma is one,of the ... U.S., but,survival rates have risen dramatically over the past ... to new types of drugs,and aggressive therapeutic interventions such ... studies prepublished online in Blood, the,official journal of the ...
... IRVINE, Calif., Nov. 1 IDM Pharma, Inc.,(Nasdaq: ... data,from the Phase 3 mifamurtide (L-MTP-PE) clinical trial (INT-0133). ... funded cooperative,group study conducted by the Children,s Oncology Group ... of patients originally treated in the Phase,3 trial. The ...
Cached Medicine Technology:Studies Attribute Recent Increase in Multiple Myeloma Survival to Novel Therapies 2Studies Attribute Recent Increase in Multiple Myeloma Survival to Novel Therapies 3Studies Attribute Recent Increase in Multiple Myeloma Survival to Novel Therapies 4IDM Pharma Announces Updated Phase 3 Mifamurtide (L-MTP-PE) Data Confirms Statistically Superior Overall Survival in Osteosarcoma Patients 2IDM Pharma Announces Updated Phase 3 Mifamurtide (L-MTP-PE) Data Confirms Statistically Superior Overall Survival in Osteosarcoma Patients 3IDM Pharma Announces Updated Phase 3 Mifamurtide (L-MTP-PE) Data Confirms Statistically Superior Overall Survival in Osteosarcoma Patients 4IDM Pharma Announces Updated Phase 3 Mifamurtide (L-MTP-PE) Data Confirms Statistically Superior Overall Survival in Osteosarcoma Patients 5IDM Pharma Announces Updated Phase 3 Mifamurtide (L-MTP-PE) Data Confirms Statistically Superior Overall Survival in Osteosarcoma Patients 6
Semi-Automated Chemistry Analyzer with model screen master. The Screen Master incorporates many powerful features in one compact unit. Useful for biochemical investigations, enzymatic, immunoturbidi...
... Geometric Data Hemastainer. Formulated to ... quality control tested on human ... staining and absence of precipitate. ... a minimum of eight hours ...
... Unique molecular suspension in methanol for ... chromosome, and histology smears. Our special ... rapidly penetrates cellular elements producing unequaled ... detail and unexcelled brilliance in the ...
Wright-Giemsa Stain Solutions...
Medicine Products: