Community Engaged Network for All
The Community Engaged Network for All (CENA) is a network led by Genetic Alliance and consists of 11 different disease advocacy organizations (DAOs). In addition, CENA harnesses the power of partnerships with Private Access, the University of California - San Francisco, and the University of California - Davis to transform traditional clinically-driven research to people-driven research.
CENA provides methods and tools that empower everyday people to be full participants in the research enterprise, work with a variety of stakeholders to prioritize research questions most important to them, and drive new studies to alleviate suffering in their own communities. CENA aims to accomplish this by piloting and facilitating new online methods of collaboration among researchers and participants, particularly in the sharing of health data and informing research priorities.
Currently, CENA is one of 33 networks that make up the Patient-Centered Outcomes Research Network (PCORnet). In 2013, the Patient Centered Outcomes Research Institute (PCORI) formed this new, national network after recognizing that research must be driven power of people and their communities. PCORnet is comprised of 20 patient-powered research networks (PPRNs) including CENA, who are focused on engaging individuals, families, and communities affected by rare and common diseases, and 13 clinical data research networks (CDRNs), who are focused on engaging participants and communities within health systems. As part of PCORnet, CENA aims to drive people-centered research on a larger scale among all players within the healthcare system.
How is CENA Driving People-Centered Research?
Sharing Health Data Through PEER
Currently, the 11 DAOs have enabled participants to inform research priorities by sharing health data and feedback in the Platform for Engaging Everyone Responsibly (PEER). PEER is a unique technology solution for collecting health data directly from individuals. The platform has been designed to accommodate a variety of attitudes about data sharing and privacy and gives individuals complete control over how their data is shared for research. To learn more about PEER, please visit the associated PEER page.
Facilitating Collaboration in Health Research Topics through MOSAIC
MOSAIC is an online collaborative forum where participants, patients, clinicians, researchers, and other stakeholders come together to design, implement, and disseminate research studies. It is operated by CENA partner, the University of California – San Francisco. By making all stakeholder voices heard, participants can set the roadmap to design and conduct studies that answer questions that are most important to them. Participants can post ideas, provide feedback and suggestions, support and note useful resources, and even join the research team. Currently 3 CENA DAOs run a MOSAIC forum including the Celiac Disease Foundation, Joubert Syndrome and Related Disorders Foundation (JSRDF), and PXE International. To learn more about MOSAIC, please visit: https://mosaic.ucsf.edu.
Sharing Best Practices and Resources through the PCORnet Commons
The PCORnet Commons is an online community designed to accelerate people-centered research. The publically accessible site provides opportunities to share resources and best practices, engage in dialogue, and learn from others in the clinical research space.
As part of PCORnet, CENA aims to be an active contributor to the PCORnet Commons to improve its own research engagement processes for its projects in PEER and MOSAIC. To learn more about the PCORnet Commons, please visit: http://pcornetcommons.org/.
How Can Individuals Get Involved with CENA's Goals?
Individuals whether it be those living with a particular disease or condition, their caregivers, or their families can get involved in participant-driven research in one of three ways.
- Participate in a PEER Registry. If you or someone you know is currently living with a disease or condition served by CENA or PEER, please see our list of organizations serving more than 30 conditions below to check for an active registry and the registry link. Your input will help drive CENA’s goal in incorporating participants into the research process, and advance knowledge and research for that particular disease or condition. If you do not see a particular disease or condition listed, but still wish to be involved, please reach out to the PEER team at email@example.com, and include the name of the disease or condition you wish to get involved with.
- Join MOSAIC. If you or someone you know currently are affected by Celiac Disease, Joubert syndrome and its related disorders, or PXE, you can contribute to what research studies you would like to see by contributing to MOSAIC. The forum can be accessed at https://mosaic.ucsf.edu/.
- Share and learn about health research by signing up for the PCORnet Commons. The goal of PCORnet Commons is to be a resource for organizations serving communities with particular diseases and conditions, and for participants (whether it be someone living with a particular condition or disease, their caregivers, or their families) to contribute their ideas and feedback into the research process. Your voice will be crucial in informing networks like CENA and PCORnet, and other organizations at the Commons to hear what research you would like to see and how the research process can be improved. To sign up and learn more about the PCORnet Commons, please visit: http://pcornetcommons.org/.
How Can Organizations and Researchers Get Involved with CENA's Goals?
Researchers interested in or currently researching the diseases and conditions served by our DAOs have the opportunity to access the data within the PEER platform and advance people-driven research. Researchers must first receive IRB approval by the Genetic Alliance IRB Committee. For more information, please contact our Managing Director, Tanya Murza, at firstname.lastname@example.org.
Organizations can sponsor registries within our PEER platform to collect health information, gather community research priorities, and engage their respective communities in research about a specific condition, disease, or issue, with your organization or other researchers. If your organization is interested in sponsoring a registry, please refer to the associated PEER page for more information on what PEER is, how the platform works for participants and organizations, and registry demos. For additional questions, please contact the PEER team at email@example.com.
CENA is also interested in developing partnerships to help engage individuals, caregivers, and families affected by the diseases and conditions currently served by CENA. Partners would assist in promoting our registries via social media, newsletters, or other methods your organization currently uses to engage your community. To see a complete list of conditions and diseases served by our organization, please see below.
What Conditions are Currently Served Under CENA?
- Food Allergies
- Alström syndrome
- Arylsulfatase A deficiency
- Austin disease
- Breast cancer
- Celiac disease
- Cogan-type oculomotor apraxia
- Dekaban-Arima syndrome
- Dyskeratosis congenita
- Familial pulmonary fibrosis
- Fibrolamellar hepatocellular carcinoma
- Inflammatory breast cancer
- Jacobs syndrome
- Joubert syndrome
- Juvenile nephronophthisis
- Klinefelter syndrome and associated conditions
- Meckel-Gruber syndrome
- Metachromatic leukodystrophy
- Multiple sulfatase deficiency
- Pseudoxanthoma elasticum (PXE)
- Saposin B deficiency
- Senior-Loken syndrome
- Sex chromosome aneuploidy
- Telomere biology disorder/syndrome
- Trisomy X
- Varadi-Papp syndrome
- X and Y chromosome variations
What Organizations Make Up CENA?
Alström Syndrome International
Alström Syndrome International, a 501 (c) (3) registered charity, was established in 1995 with the mission to provide support, information, and coordination worldwide to families and professionals in order to treat and cure Alström Syndrome. ASI maintains three programs (Research, Education, and Family Support) and now advocates for patients of all ethnicities in nearly 60 countries while supporting practicing physicians and fostering research collaborations within the global scientific community whenever and wherever possible.
Alström syndrome is a rare autosomal recessive genetic disorder that impacts virtually every cell, every organ, and every system in those affected. It is 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. It is caused by at least 239 disease causing mutations in ALMS1, and the ALMS1 protein is found in centrosomes, basal bodies, and cytosol of all tissues affected by the disease. The protein pathway has not yet been identified, thus making interventions problematic, so early detection, healthier life style choices, and appropriate treatment of the full array of issues, both biomedical and psycho-social, are essential to effective treatment and increases in longevity and quality of life.
PEER Portal: https://www.alstrom.org/alstrom-registry
The Asthma and Allergy Foundation of America
Founded in 1953 and celebrating over 60 years of service, the Asthma and Allergy Foundation of America (AAFA) is the oldest and largest nonprofit patient organization dedicated to improving the quality of life for people with asthma, allergies and related conditions through education, advocacy and research. AAFA provides practical information, community-based services, support and referrals through a national network of chapters and educational support groups and offers the oldest, most extensive online support community for families raising children with food allergies. In September 2016, AAFA launched its Food Allergy Patient & Family Registry using PEER to collect, manage, and analyze data from and about people with food allergies, and advance research through patient information. In addition, AAFA's Patient and Family Asthma Registry is currently using PEER.
Website: www.aafa.org, www.kidswithfoodallergies.org
Twitter: @AAFANational ; @kfatweets
Facebook: https://www.facebook.com/AAFANational; https://www.facebook.com/kidswithfoodallergies
YouTube: https://www.youtube.com/user/ForLifeWithoutLimits; https://www.youtube.com/user/KFAAdmin
PEER Portal: https://research.kidswithfoodallergies.org/
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 serious genetic autoimmune disorder where the ingestion of gluten leads to damage in the small intestine. It is estimated to affect 1 in 100 people worldwide. An estimated two and one-half million Americans are undiagnosed and are at risk for long-term health complications, including: cancer, heart disease, infertility, and osteoporosis, among others. Celiac disease is hereditary, meaning that it runs in families. People with a first-degree relative with celiac disease (parent, child, sibling) have a 1 in 10 risk of developing celiac disease themselves. The only treatment available for celiac disease is a strict, gluten-free diet.
PEER Portal: https://celiac.org/icureceliac/
Dyskeratosis Congenita Outreach
Estimated to occur in one out of one million people, Dyskeratosis Congenita (DC) is a genetic disorder that can be inherited or develop spontaneously in utero. The progressive disease affects numerous systems, but primarily targets those with rapid cell replacement. A spectrum of variants and manifestations occur with symptoms ranging from mild to extremely severe. As of 2013, nine different gene mutations have been discovered. These genes are found on different chromosomes, but are similar in that each gene plays some role in the biology of telomeres, which are the molecular ends of each chromosome. This dysfunction of the telomere results in certain cells, especially those that more frequently reproduce, being unable to regenerate normally.
PEER Portal: https://www.dcoutreach.org/solve-the-puzzle
Hepatitis Foundation International
Hepatitis causes the inflammation of the liver, with an estimated 70% - 80% of those infected also develop 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 2016). Subsequently, the Hepatitis C virus (HCV) is the most common chronic blood borne infection in the U.S.; approximately 2.7 - 3.9 million persons are chronically infected (CDC 2016). Chronic hepatitis can lead to the scarring of the liver; also known as cirrhosis, liver failure, and even liver cancer.
The Hepatitis Foundation International (HFI) is a 501(c) 3 organization established in 1994 working to eradicate chronic hepatitis and other blood borne diseases for more than 550 million people globally. HFI is dedicated to increasing and promoting health and wellness; reducing the incidence of preventable liver-related chronic diseases, and lifestyles that negatively impact the liver. Some of these diseases and issues include: obesity, diabetes, hepatitis, substance abuse, HIV/AIDS, cardiovascular disease, harm reduction and fatty/liver cancer. HFI reaches well over 6 million patients and health care professionals annually through public and private partnerships.
PEER Portal: http://hepatitisfoundation.org/hepatitis-registry-summary/
Inflammatory Breast Cancer Research Foundation
The Inflammatory Breast Cancer Research Foundation, a grass-roots advocacy organization incorporated in 1999, works to improve the lives of those touched by inflammatory breast cancer (IBC). We do this by tenaciously fostering innovative IBC research, creatively educating stakeholders of all kinds and tireless advocating for both current IBC patients and survivors. We do this through an extensive network of volunteers, a comprehensive educational website, and work in the breast cancer community and beyond. While research remains our focus we are actively engaged in education, patient support, and development of clinical trials.
Inflammatory breast cancer (IBC) is a less common and very aggressive disease, accounting for 1-5% of all breast cancers diagnosed in the US, 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". Frequently there is no discreet mass (lump) associated with IBC adding to the diagnostic challenge. Currently there is no definitive test for IBC and the diagnosis is made based on clinical evidence (changes in skin texture, redness, swelling, etc) and a biopsy of the skin showing cancer cells. IBC is frequently mistaken for mastitis (a breast infection) delaying proper diagnosis. Treatment typically involves chemotherapy, surgery, and radiation. About one-third of IBC patients have metastasis (disease beyond the breast and lymph nodes) at time of diagnosis.
PEER Portal: http://www.ibcresearch.org/no-lump-required
Joubert Syndrome Foundation
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.
PEER Portal: http://www.jsrdf.org/JSLIFE
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. Those 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.
Pseudoxanthoma elasticum, PXE, is a rare inherited disorder that causes select mineralization of tissue due to mutated genes expressed in the liver. This can result in changes in the skin, eyes, cardiovascular system, and gastrointestinal system. PXE International initiates, funds, and conducts research centered on people affected by PXE, along with providing support for individuals and families affected by PXE.
The Fibrolamellar Registry
Fibrolamellar hepatocellular carcinoma is a rare and poorly understood liver cancer affecting children, teens and young adults and for which there is no effective treatment. A recurrent DNAJB1-PRKACA chimeric mutation has been found in 100% of all fibrolamellar patients and plays a key role in the formation of fibrolamellar.