Primary Ciliary Dyskinesia News and Research

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New method to improve diagnosis of Primary Ciliary Dyskinesia in preschool age children

University of Southampton researchers have recommended a method to help diagnose preschool age children with Primary Ciliary Dyskinesia (PCD).

27 Feb 2023

Mucoactive drugs block SARS-CoV-2 infection

Researchers evaluate the effects of mucociliary active molecules on SARS-CoV-2 infection in vitro.

7 Feb 2023

Cilia act as sensors to establish body left-right asymmetry during embryogenesis

Although the human body is externally symmetric across the left-right axis, there are remarkable left-right asymmetries in the shape and positioning of most internal organs including the heart, lungs, liver, stomach, and brain.

5 Jan 2023

Research shows how cilia and exocyst contribute to extracellular vesicle production

Although the cilium has been known to scientists for more than 100 years, it is only recently that it has been acknowledged to play important roles in physiology.

25 Nov 2019

Simple, minimally-invasive tool to study nasal airways of cystic fibrosis patients

A paper published today in Science Translational Medicine describes a simple, minimally invasive new tool for viewing differences in the nasal airways of cystic fibrosis patients in vivo at a cellular level.

8 Aug 2019

Study provides better understanding of how cilia work and what causes oscillations

Human bodies have some built-in systems to care for themselves. The cells that line our lungs, nose, brain and reproductive system have cilia, which are tiny, hair-like structures designed to sweep out fluids, cells and microbes to stay healthy.

30 Mar 2019

Researchers identify link between mucus in the small airways and pulmonary fibrosis

A team of investigators led by members of the University of Colorado School of Medicine faculty at CU Anschutz Medical Campus has identified a connection between mucus in the small airways and pulmonary fibrosis.

18 Dec 2018

Babies exposed to higher levels of organochlorine compounds in womb may have worse lung function

Babies exposed to higher levels of organochlorine compounds in the womb go on to have worse lung function in childhood, according to new research presented today at the European Respiratory Society International Congress.

18 Sep 2018

Researchers uncover molecular roots of genetic lung disease

Respiratory infections peak during the winter months, and most people recover within a few weeks. But for those with a rare genetic lung disease, the sniffling, coughing and congestion never end.

24 Jan 2018

Defects in cerebrospinal fluid flow may contribute to scoliosis during adolescence

A new study in zebrafish suggests that irregular fluid flow through the spinal column brought on by gene mutations is linked to a type of scoliosis that can affect humans during adolescence.

13 Jun 2016

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