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Research in PCD
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As the first recognized human disorder linked to ciliary structure and function, PCD has had a unique role in advancing interest in the field of ‘ciliopathies,’ human genetic disorders caused by mutations in genes that regulate the structure, function or development of cilia. New understanding of the role of cilia in human health, phenotypic overlaps between motile and non-motile ciliary disorders and increased appreciation for the clinical consequences of ciliary disorders makes this an ideal time to push for further investigation.

It is the position of the PCD Foundation that research is key to meeting our future goals and accomplishing our mission. Lack of adequate research to date contributes to difficulty with diagnosis, which has resulted in an unacceptable level of delayed/missed patient identification. This, in turn, has resulted in significant under-reporting of the incidence and prevalence of PCD which currently impedes our ability to perform clinical trials that meet the threshold for statistical power. However, rapid progress in gene identification coupled with the fantastic natural history work of the GDMCC and investigators in Europe are dramatically changing research prospects for PCD and we believe research efforts in the next decade will see monumental changes in how we understand, diagnose and treat PCD and associated disorders.

For more information on how the PCD Foundation plans to support and accelerate research efforts, please see our Path to Clinical Trials program overview.

References:

  • Hildebrandt F, Benzing T, Katsanis N. Ciliopathies. N Engl J Med. 2011 Apr 21;364(16):1533-43.
  • Leigh MW, Pittman JE, Carson JL, Ferkol TW, Dell SD, Davis SD, Knowles MR, Zariwala MA. Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome. Genet Med. 2009 Jul;11(7):473-87.
  • Baker K, Beales PL. Making sense of cilia in disease: the human ciliopathies. Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):281-95
  • Ainsworth C. Cilia: tails of the unexpected. Nature. 2007 Aug 9;448(7154):638-41.
  • GeneReviews: Primary Ciliary Dyskinesia: http://www.ncbi.nlm.nih.gov/books/NBK1122/