Primary Ciliary Dyskinesia News and Research

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Invitae announces dramatic expansion of genetic testing menu

Invitae Corporation (NYSE: NVTA), a genetic information company, has announced that it has more than doubled the size of its genetic testing platform to include more than 600 genes and will begin releasing the new content between now and the end of the year. Invitae is immediately expanding its menu with dozens of new test panels for hereditary cancer, cardiovascular, neuromuscular, pediatric and other rare disorders.

7 Oct 2015

Pitt researchers figure out how to quantify beating action of cilia

Researchers at the University of Pittsburgh School of Medicine have figured out how to objectively quantify the beating action of cilia, the tiny, hair-like projections on cells that line nasal passages, the lungs and almost every other body tissue, according to a study published online today in Science Translational Medicine.

6 Aug 2015

First randomized, controlled trial of pharmacotherapy in PCD patients now in place

Primary ciliary dyskinesia (PCD) is a rare, genetic respiratory tract disorder leading to progressive pulmonary dysfunction. It exhibits many problems typical for orphan diseases: delayed diagnosis, limited evidence-based knowledge etc. The European Union is funding BESTCILIA (Better Experimental Screening and Treatment for Primary Ciliary Dyskinesia) to introduce uniform guidelines for PCD treatment and diagnosis across Europe.

25 Mar 2015

Young Researcher's Meeting on Primary Ciliary Dyskinesia to be held in Bern, Switzerland

Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous disorder that affects approximately 1 in 20,000 individuals.

29 Jan 2015

Brandeis University researchers capture highest resolution images of cilia ever

Cilia, the cell's tails and antennas, are among the most important biological structures. They line our windpipe and sweep away all the junk we inhale; they help us see, smell and reproduce. When a mutation disrupts the function or structure of cilia, the effects on the human body are devastating and sometimes lethal.

18 Dec 2014

Zebrafish may hold key to unlocking a leading cause of respiratory diseases

A small freshwater fish found in many tropical aquariums may hold the key to unlocking one of the leading causes of respiratory diseases in humans.

17 Sep 2014

‘Limit diagnostic investigations’ in children with recurrent CAP

Research shows that pediatric recurrent community-acquired pneumonia in different lung areas is most commonly associated with mild conditions like rhinosinusitis and asthma, and not severe underlying disease.

21 Oct 2013

BESTCILIA project aims to improve screening, treatment of Primary Ciliary Dyskinesia

Primary Ciliary Dyskinesia is mainly a lung disease: a rare, genetically heterogeneous disorder resulting from dysfunction of small hair-like organelles (cilia) that clean the upper and lower airways. It can also affect multiple organs beside the respiratory system, and may cause serious impairment and lower quality of life. Its prevalence is estimated to be about 1 in 16,000.

26 Aug 2013

Scientists restore sense of smell in mice through gene therapy

Scientists have restored the sense of smell in mice through gene therapy for the first time -- a hopeful sign for people who can't smell anything from birth or lose it due to disease.

3 Sep 2012

Scientists reveal unknown role of cilia protein IFT88 in mitosis

Researchers at the University of Massachusetts Medical School have described a previously unknown role for the cilia protein IFT88 in mitosis, the process by which a dividing cell separates its chromosomes containing the cell's DNA into two identical sets of new daughter cells.

5 Apr 2011

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

Whole genome sequencing of entire family beneficial

The Institute for Systems Biology (ISB) has analyzed the first whole genome sequences of a human family of four. The findings of a project funded through a partnership between ISB and the University of Luxembourg was published online today by Science on its Science Express website. It demonstrates the benefit of sequencing entire families, including lowering error rates, identifying rare genetic variants and identifying disease-linked genes.

11 Mar 2010

ISB uses Complete Genomics’ service to sequence genomes of four family members suffer from Miller syndrome

Complete Genomics Inc., a third-generation human genome sequencing company, today announced that the Institute for Systems Biology employed Complete Genomics’ human genome sequencing service to sequence a family quartet to determine the depth of genetic information possible in analyzing a full family’s sequence, and to verify the gene responsible for Miller syndrome, a rare craniofacial disorder.

11 Mar 2010

Primary ciliary dyskinesia linked to heterotaxy

The same genetic defect that causes a rare respiratory disease may also lead to some types of congenital heart disease, according to a study from the University of North Carolina at Chapel Hill School of Medicine.

14 Jun 2007

Novel two-step mechanism ensures that all cilia beat in unison

Cilia, tiny hair-like structures that propel mucus out of airways, have to agree on the direction of the fluid flow to get things moving. Researchers at the Salk Institute for Biological Studies discovered a novel two-step mechanism that ensures that all cilia beat in unison.

24 Apr 2007

Newborns with respiratory distress should be evaluated for primary ciliary dyskinesia

Reviewing published reports, Ferkol and Margaret Leigh, M.D., professor of pediatrics at the University of North Carolina at Chapel Hill (UNC), found that neonatal respiratory distress was a common clinical symptom of PCD, a chronic airway disease that affects about 1 in 15,000 children.

20 Feb 2007