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Interest in ciliary disorders like PCD has exploded in the international scientific community largely due to the excitement that ‘ciliopathies’ (diseases arising from defects of ciliary function and/or structure) represent a new class of diverse human genetic diseases. Coupled with significant advancements in gene sequencing technologies, the potential to finally unravel the genetic mysteries of PCD and other ciliopathies is now truly within reach.
At the PCDF, we believe that these advancements will revolutionize the future of diagnosis and treatment for PCD and are committed to working closely with scientists, clinicians, researchers and industry to promote and support their important work now and in the future.
We pursue our mission through three primary program areas: Research, Education, and Support & Advocacy.
Program Area 1: Research
The PCDF Research Program promotes the understanding of disease pathophysiology and disease progression in PCD to aid in the development of better therapies, improved health outcomes and, eventually, a cure. PCDF Research provides the following:
- Funding to investigators and institutions outside the PCDF who target opportunities for the PCD community including letters of endorsement, development and dissemination of educational and materials to the PCD community to encourage participation in endorsed projects
- Support for and participation in research conferences related to topics of interest to the PCD community
- Funding for research projects prioritized by our medical and scientific advisory boards and our patient community. Following are examples of categories of interest; however, we are open to discussing any project that would benefit our patient community:
High Level Description and Impact
|Genetics and Genotype / Phenotype Correlations
||Genes code for proteins and proteins are the building blocks of the cilium. Understanding the genetic processes involved in building and operating a cilium and its molecular motors will offer hope for advancements in diagnosis, therapeutic intervention and, eventually, a cure for PCD.
||People with PCD exhale extremely low levels of nasal nitric oxide. This well documented phenomenon in PCD is at odds with studies that demonstrate that NO levels rise in the presence of inflammation in other disorders. Understanding the mechanism that leads to low nasal NO may provide clues to structural and functional impairments in PCD.
|Associated conditions: ‘Ciliopathies’
||While most current clinical interest in PCD is related to respiratory manifestations of the disorder, there are non-respiratory complications in PCD of great concern to the PCD community (see ciliopathies for more information). A better understanding could offer therapeutic options for PCD patients. This information could also be beneficial to understanding non-PCD respiratory disease and birth defects. Examples of PCD-associated conditions include the following:
- Conditions associated with ciliated epithelial or non-epithelial tissues: polycystic kidney disease, cystic disorders of pancreas/liver, hydrocephalus, ventriculomegaly, retinitis pigmentosa
- Conditions associated with gastrointestinal (GI) function or nutritional status
- Conditions related to organ placement, formation and function: heterotaxy, situs inversus, congenital heart defects
||A better understanding of the genetics and pathophysiology of PCD will help to identify therapeutic targets.
||Many, but not all, males with PCD appear to be sub-fertile or infertile. This is thought to be due to defects in the structure and/or function of the sperm flagellum. However, recent evidence indicates that sperm motility in PCD males may be impaired even when the structure appears to be intact and dynein proteins are present.
Females with PCD may also have fertility issues, but the clinical picture is far less clear than with the males. There are anecdotal reports of increased risk for ectopic pregnancy and spontaneous abortion (miscarriage). Because the population is very small, however, it is unclear whether these anecdotal reports represent a true pattern of increased risk for PCD females.
We would also like to pursue research into the role of in vitro fertilization (IVF) and other assisted reproductive technologies (ART) for people with PCD.
Program Area 2: Education
The PCDF Education Program provides up-to-date and accurate information on research, treatment alternatives and coping strategies for the extended PCD community including patients, caregivers, physicians, case managers, researchers and allied health care providers, as well as the general public. PCDF Education provides various resources including the following:
- Communication templates for insurance, education and work-related issues; peer-reviewed articles; conference presentations, etc.
- “The Beat” E-newsletter Sign up now!
- Informational Brochures
- Educational Booklet/Packets for distribution to specific PCD community subgroups:
- Kids: “Gunky Lungs and Bungee Boogers: A Kid’s Guide to PCD” English | Spanish;
- Newly Diagnosed: New Patient Introduction Packet;
- All patients: PCD Action Plan pdf | doc
- See Resources for more information.
- Patient Stories that highlight the real experiences of the PCD community.
- Educational and Scientific Conferences
- Family Day: Annual event that brings patients, researchers, physicians and others together for up-to-date research and treatment options for PCD. With a unique mix of clinical, scientific and patient presentations and workshops, Family Day is a wonderful opportunity for patients and families to ask questions, interact with medical professional and meet other patients and families to share experiences. It is also a great networking event for health professionals to meet one another, to reflect on presentations and to become more familiar with PCD from other perspectives.
- Scientific Conferences for Ciliopathies: The PCDF is taking a leading role in driving research and supporting discoveries for PCD and other ciliopathies. Most recently, we supported the 2010 PCD and Associated Ciliopathies meeting in St. Louis, Missouri and the 2011 International Conference on Inherited Disorders of Mucociliary Clearance with a focus on PCD in Münster, Germany among other events. We strive to support annual scientific conferences on ciliopathies and the development of a speakers bureau to provide educational in-services on PCD to academic institutions and civic groups.
Program Area 3: Advocacy & Support
PCDF Advocacy & Support Program focuses on greatly improving the ‘3 A’s’ for our patient community: Awareness, Availability and Access:
- Lack of Awareness: A general lack of awareness and a specific lack of knowledge and standards of care leads to delayed diagnosis, often misdiagnosis and sometimes fatal consequences. The ‘invisible’ status is evidenced by the fact that of the US$10 billion of stimulus money that recently went to the NIH, not one penny was appropriated to the Office of Rare Diseases Research (ORDR).
- Limited Availability: PCD patient medical care, knowledge and support are extremely limited. From the general lack of standards of care to referrals to expert centers (i.e. insurance restrictions for sub-specialty care) and difficulty in getting diagnostic code recognition (i.e. code specific insurance reimbursement) to the reality of few, geographically dispersed experts, PCD patients are at an extreme disadvantage to optimize quality of life.
- Little or No Access to Government-funded & Industry Research: Except for a handful of rare disorders that have captured the interest of NIH institutes, the majority has little or no access to research. In fact, most of the ‘commonly accepted’ treatments for PCD have NOT even been tested on PCD patients. Research on cilia could help fight obesity, diabetes, cancer and skeletal & connective tissue formation disorders like scoliosis and spina bifida – BUT few are doing anything about it! We have to change that. We can do it, but we need your help.