Cilia News and Research

RSS

Dogs help understand primary ciliary dyskinesia

A dog is mankind's best friend : the old saying has once again been borne out through a medical discovery concerning the genetic origins of primary ciliary dyskinesia (PCD). In using dogs as a research model in the framework of the European LUPA project, a team from the University of Liège's GIGA-Research Unit has been able to bring to light new mutations in a specific gene responsible for the development of the disease in human beings.

9 Dec 2010

Screening for CCDC40 gene mutations may help determine risk for congenital heart defects

A gene that can cause congenital heart defects has been identified by a team of scientists, including a group from Princeton University. The discovery could lead to new treatments for those affected by the conditions brought on by the birth defect.

7 Dec 2010

New research shows flu virus with D222G mutation can cause pneumonia

A variant of last year's pandemic influenza linked to fatal cases carried a mutation that enabled it to infect a different subset of cells lining the airway, according to new research. The study, due to be published next week in the Journal of Virology, suggests that the mutant virus could have impaired the lungs' ability to clear out germs.

25 Oct 2010

Inspire presents data on denufosol therapy for cystic fibrosis at NACFC conference

Inspire Pharmaceuticals, Inc. announced today that data will be presented on denufosol tetrasodium, an investigational therapy for cystic fibrosis (CF), during oral and poster presentations at the 24th Annual North American Cystic Fibrosis Conference (NACFC) October 21-23, 2010 in Baltimore, Maryland.

22 Oct 2010

Progress in realizing potential of satellite measurements of air pollution

In many developing countries, the absence of surface-based air pollution sensors makes it difficult, and in some cases impossible, to get even a rough estimate of the abundance of a subcategory of airborne particles that epidemiologists suspect contributes to millions of premature deaths each year. The problematic particles, called fine particulate matter (PM2.5), are 2.5 micrometers or less in diameter, about a tenth the fraction of human hair. These small particles can get past the body's normal defenses and penetrate deep into the lungs.

24 Sep 2010

Scientists replace human gene to preserve photoreceptor function in retinal degeneration

The easy accessibility of the eye and the established link between specific genetic defects and ocular disorders offer hope for using gene therapy to provide long-term therapeutic benefit. Two reports in the current issue of Human Gene Therapy, a peer-reviewed journal published by Mary Ann Liebert, Inc., describe the effective replacement of a human gene to preserve photoreceptor function in a mouse model of severe retinal degeneration. The articles are available free online.

16 Aug 2010

Study implicates Fritz's role in human genetic disorders

Mutations in a gene known as "Fritz" may be responsible for causing human genetic disorders such as Bardet-Biedl syndrome, University of Texas at Austin developmental biologist John Wallingford and Duke University human geneticist and cell biologist Nicholas Katsanis have found.

31 Jul 2010

Japanese scientists identify long-elusive enzyme necessary for proper regulation of cilia

It's safe to say that cilia, the hairlike appendages jutting out from the smooth surfaces of most mammalian cells, have long been misunderstood - underestimated, even.

8 Jul 2010

Florida State University researcher explores role of key protein in cell division

A Florida State University researcher has identified the important role that a key protein plays in cell division, and that discovery could lead to a greater understanding of stem cells.

16 Jun 2010

Research on genetic mutations could lead to accurate diagnosis of USH, says scientist

Usher syndrome, an inherited condition involving both hearing and vision loss, is not a simply recessively inherited disease, a scientist will tell the annual conference of the European Society of Human Genetics today (Saturday). Dr. Hanno Bolz, Associate Medical Director of the Bioscientia Centre for Human Genetics, Ingelheim, Germany, and active in teaching and research at the University Hospital of Cologne, will say that his team's research challenges the traditional view that USH was inherited as a single gene disorder, and shows that it may result from at least two different genetic mutations.

14 Jun 2010

Researchers identify gene responsible for Meckel-Gruber and Joubert syndromes

An international group of researchers has identified the genetic cause of an inherited condition that causes severe foetal abnormalities.

31 May 2010

Study results may help researchers determine genetic abnormalities that cause lung disease to develop

Patients who encounter serious lung diseases in middle age, despite an absence of family history or other predisposing factors, may still have their genes to blame, according to a new study conducted by researchers at the National Institute of Allergy and Infectious Diseases, part of the National Institutes of Health.

19 May 2010

Exposure to dust after WTC collapse impairs ability to detect odors and sense irritants

Individuals involved in rescue, recovery, demolition, and clean-up after the World Trade Center (WTC) disaster on September 11, 2001, were exposed to a complex mixture of airborne smoke, dust, combustion gases, acid mists, and metal fumes. The impact of this exposure on responders' upper and lower respiratory function has been well documented, but little is known about its impact on their sensitivity to odor and irritants.

19 Apr 2010

Researchers discover link between protein structure and hearing process

Rising from the top surface of each of the specialized receptor cells in our inner ears is a bundle of sensory cilia that responds to the movement of sound. As sensitive as they are fragile, these cilia can move to wisps of sound no larger than a molecule-but can shear at sounds that are larger than life.

17 Apr 2010

Study on primary cilia formation may lead to new therapies for ciliopathies

A team of scientists at the University of California, San Diego School of Medicine have identified a network of genes that initiate and manage cilia formation. Although scientists have known about cilia for decades, only recently have they discovered their role in disease. This new discovery, which may lead to new therapies for ciliopathies, will appear in the April 15 edition of Nature.

16 Apr 2010

Scientists discover how mechanical stress promotes new bone growth

For osteoporosis patients unable to exercise, help may be on the way. That's because scientists have discovered precisely how mechanical stress, such as exercise, promotes new bone growth. This opens the door to entirely new therapies that can trick bones into thinking they are getting a workout. The research report describing this advance is published online in The FASEB Journal.

8 Apr 2010

Gene implicated in JSRDs: UCD research team publishes new information

Researchers in University College Dublin (UCD) led by Conway Fellow, Dr Oliver Blacque have revealed new information about a gene implicated in Joubert syndrome and related cerebellar disorders (JSRDs) that are characterised by blindness, bone abnormalities, cystic kidneys, developmental delay and loss of muscle tone and control. The findings from this research, which is funded by Science Foundation Ireland, have been published today in a leading science journal, Journal of Cell Biology.

22 Mar 2010

Nasal washes may help reduce sinus infection

Washing out your nose with a spray or spout of salt water is safe and might even get you back to work sooner after a cold or acute sinus infection. However, there is not enough evidence to show that it can reduce your symptoms significantly, according to a new research review.

17 Mar 2010

Researchers measure diffusion coefficient of a protein in a primary cilium

A team of researchers led by Peter Calvert (SUNY Upstate Medical University) has, for the first time, measured the diffusion coefficient of a protein in a primary cilium and in other major compartments of a highly polarized cell. The study appears in the March issue of the Journal of General Physiology.

22 Feb 2010

Study could lead to better understanding of how certain birth defects occur in humans

Scientists have identified a gene family that plays a key role in one of the earliest stages of development in which an embryo distinguishes its left side from the right and determines how organs should be positioned within the body. The finding in mice likely will lead to a better understanding of how certain birth defects occur in humans.

27 Jan 2010