Community Engaged Network for All
In the News:
Community Engaged Network for All (CENA) is one of 29 projects funded by the Patient Centered Outcomes Research Institute (PCORI) to form a new national resource that will accelerate health research. The new network, which involves millions of Americans, is called PCORnet. Genetic Alliance leads this project, which is a collaborative of eleven disease advocacy organizations, the University of California San Francisco, the University of California Davis, and Private Access (Press Release). The eleven disease advocacy organizations will determine, with their communities, what is most important to them. Please watch this short webinar for more information.
1. Alström syndrome
2. Arylsulfatase A deficiency
3. Austin disease
4. Breast cancer
5. Celiac disease
6. Cogan-type oculomotor apraxia
7. Dekaban-Arima syndrome
8. Dyskeratosis congenita
9. Familial pulmonary fibrosis
10. Gaucher disease
12. Inflammatory breast cancer
13. Jacobs syndrome
14. Joubert syndrome
15. Juvenile nephronophthisis
16. Klinefelter syndrome and associated conditions
17. Lyme disease
18. Meckel-Gruber syndrome
19. Metachromatic leukodystrophy
21. Multiple sulfatase deficiency
22. Pseudoxanthoma elasticum (PXE)
23. Saposin B deficiency
24. Senior-Loken syndrome
25. Sex chromosome aneuploidy
26. Telomere biology disorder/syndrome
27. Trisomy X
28. Varadi-Papp syndrome
29. X and Y chromosome variations
These conditions were chosen because the relevant condition-specific organizations competed for the chance to participate in this project.
For people who are not affected by one of the eleven conditions, but who wish to be involved, a more generic portal is available to input their data as well.
1. Alström Syndrome International
3. Celiac Disease Foundation
4. Dyskeratosis Congenita Outreach
5. Hepatitis Foundation International
6. Inflammatory Breast Cancer Research Foundation
7. Joubert Syndrome and Related Disorders Foundation
9. MLD Foundation
10. National Gaucher Foundation
11. PXE International
These organizations were chosen through a rigorous application process because they exhibited the qualities necessary to succeed in this project.
Human health is result of a complex interplay of many aspects of the individual, the family, their community and environment. Already many silos of information and data exist that contain health-related information. There are many ways to capture more data and therefore tremendous opportunity to understand health and disease more completely, with the goal of alleviating suffering. Aggregating information from individuals about their health and their lifestyle will help advance overall well-being for all. It is important that we gather lived experience, clinical records, device data, and health information from as many individuals as possible. CENA begins with eleven conditions, but is open to all.
If an individual is affected by one of the conditions that are part of CENA (Alstrom Syndrome, Klinefelter syndrome, Dyskeratosis congenita, Hepatitis, Inflammatory breast cancer, Joubert Syndrome, Metachromatic leukodystrophy, Gaucher, Pseudoxanthoma elasticum, PXE, Celiac disease, Lyme disease),;they have an opportunity to engage in participant-centric research. In other words, individuals may share information that is important to them, as well as medical history, all of which will empower potential researchers to understand various conditions and discover relevant interventions. The eleven organizations involved in CENA will engage their community, and build surveys based on the concerns of individuals affected by those conditions – a participant-centric focus - with input from interested researchers.
Researchers interested in researching these eleven conditions, and various comorbidities, will access the data from this project for the purpose of answering questions significant to the community. We will be working with the eleven disease advocacy organizations to determine what research questions are important to their community. These questions will be shared in the Open Proposal portal at UCSF where we will invite researchers to comment on and refine these potential research questions.
CENA is interested in developing partners who will help engage individuals and families affected by the eleven conditions through website applications, flyers, newsletters, mailings, social media and any means possible. Please contact Tetyana Murza for more information.
Alström Syndrome International
Web site: http://www.alstrom.org
Alström syndrome is a rare autosomal recessive genetic disorder characterized by cone-rod dystrophy, hearing loss, childhood truncal obesity, insulin resistance and hyperinsulinemia, type 2 diabetes, hypertriglyceridemia, short stature in adulthood, cardiomyopathy, and progressive pulmonary, hepatic, and renal dysfunction. Symptoms first appear in infancy and there is progressive development of multi-organ pathology. Alström syndrome is caused by mutations in ALMS1, and the ALMS1 protein is found in centrosomes, basal bodies, and cytosol of all tissues affected by the disease. The identification of ALMS1 as a ciliary protein explains the range of observed phenotypes and their similarity to those of other ciliopathies such as Bardet- Biedl syndrome.
AXYS (formerly KS&A)
AXYS (formerly known as KS&A) serves individuals who have X & Y chromosome variations, or extra X &Y chromosomes. These conditions include 47,XXY; Klinefelter syndrome; Trisomy X; 47,XYY syndrome and the approximately 20 additional variations involving additional X and/or Y chromosomes and mosaicism. It is estimated that 1:500 people who are born have one of these conditions.
Celiac Disease Foundation
Celiac disease is a genetic autoimmune disorder in which the ingestion of gluten leads to damage in the small intestine. It is estimated to affect 1 in 100 people worldwide, children and adults. First degree family members have a 1 in 10 risk of developing celiac disease. It is estimated that only 500,000 Americans are currently diagnosed, with two and one-half million undiagnosed and at risk for long-term health complications including cancer, heart disease, infertility, osteoporosis and neuropathies. The only treatment available for celiac disease is a strict, gluten-free diet.
Dyskeratosis Congenita Outreach
Web site: http://www.dcoutreach.org
PEER Portal: https://www.dcoutreach.org/solve-the-puzzle
Web site: http://www.hepatitisfoundation.org
PEER Portal: http://hepatitisfoundation.org/RESEARCH/Patient_Registry.html
In the United States, it is estimated that liver disease affects 30 million people, or 1 in 10 individuals. Most people think that liver disease is primarily related to alcohol. However, there are over 100 different liver diseases and conditions. It is estimated that more than 500,000 new patients with liver damage are diagnosed each year in the U.S. as a result of rising rates of viral hepatitis, drug abuse, obesity and alcohol consumption, to name a few.
Hepatitis causes the inflammation of the liver, with an estimated 80 percent of those infected developing chronic hepatitis. There are several types of viral hepatitis infections (A,B,C,D and E). The Centers for Disease Control (CDC) estimates that about 5.3 million Americans have viral hepatitis, and of that number, about 50 percent are unaware of their infection (CDC 2010). Subsequently, the Hepatitis C virus (HCV) is the most common chronic blood borne infection in the U.S.; 3.2 million persons are chronically infected (CDC 2013). Chronic hepatitis can lead to the scarring of the liver; also know as cirrhosis, liver failure, and even liver cancer.
Inflammatory Breast Cancer Research Foundation
“Inflammatory breast cancer is a rare and very aggressive disease in which cancer cells block lymph vessels in the skin of the breast. This type of breast cancer is called “inflammatory” because the breast often looks swollen and red, or “inflamed.”
Inflammatory breast cancer accounts for 1 to 5 percent of all breast cancers diagnosed in the United States. Most inflammatory breast cancers are invasive ductal carcinomas, which means they developed from cells that line the milk ducts of the breast and then spread beyond the ducts.
Joubert Syndrome Foundation
Web site: http://www.jsrdf.org/
PEER Portal: http://www.jsrdf.org/JSLIFE
Joubert Syndrome and its related disorders are rare genetic disorders characterized by decreased muscle tone, difficulties with coordination, abnormal eye movements, abnormal breathing pattern and cognitive impairment. Joubert Syndrome is one of a growing group of disorders called "ciliopathies," caused by dysfunction of a part of the cell called the cilium. Disruption of cilium function likely explains the incidence of eye, kidney and liver problems in individuals with Joubert Syndrome.
Web site: http://www.mldfoundation.org
MLD is short for metachromatic leukodystrophy. Translated from doctor talk MLD means: meta - change, chromatic - color, leuko - white matter, dystrophy - degeneration. MLD's name therefore comes from degeneration in the white matter of the brain and Central Nervous System (CNS) which has a color on staining that should not be there. Staining was how the disease was observed before the advent of the MRI. Basically people who are affected by MLD lack an enzyme in their blood called Arylsulfatase-A, (ARSA). Without this enzyme, sulfatides are NOT broken down and instead build-up in the white matter of the brain and CNS causing destruction of the myelin sheath, or demyelination. Without an intact myelin sheath there is a breakdown in communication between the nerves and the brain. This loss of or miscommunication accounts for the loss of acquired functions, paralysis, blindness, seizures and eventual death seen in MLD.
National Gaucher Foundation
Web site: http://www.gaucherdisease.org/
PEER Portal: https://www.gaucherdisease.org/gaucher-network-registry.php
Gaucher, also referred to as Gaucher's is an autosomal recessive disease and the most prevalent Lysosomal Storage Disorder (LSD) and is present in approximately 1 in 20,000 live births. Gaucher disease, also known as glucocerebrosidase deficiency, occurs when a certain lipid, glucosylceramide, accumulates in the bone marrow, lungs, spleen, liver and sometimes the brain. Despite the fact that the disease consists of a phenotype, with varying degrees of severity, it has been sub-divided in three subtypes according to the presence or absence of neurological involvement.
Pseudoxanthoma elasticum, PXE, is an inherited disorder that causes select mineralization of tissue. This can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system.
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