Background: Joubert syndrome (JS) and related disorders (RDs) are rare genetic conditions (estimated 1:80,000-100,000) characterized by decreased muscle tone, difficulties with coordination, abnormal eye movements, abnormal breathing pattern and cognitive impairment. Biologically, JSRD are ciliopathies, caused by dysfunction of primary cilium. Cilium dysfunction likely explains possible complications of the eye, kidney and/or liver.

JSRDs were once thought to be a very specific diagnosis. That thinking has changed over the years to include different subtypes and phenotypes that all exhibit some common features of JS (molar tooth sign, low muscle tone, developmental delay/ intellectual disability). Varying clinical findings associated with JSRDs and a growing list of causative gene mutations (23 currently identified) brings about the need to match medical literature with patient reports and needs. The JSRDF developed a platform for patient engagement, privacy assurance, and research exchange called Joubert Syndrome Link to Information and Family Exchange (JS-LIFE). JS-LIFE allows families to share information and improve patient outcomes and research. By capturing the lived experiences of JSRD, we can discover better ways to define and treat them.

JS-LIFE runs on Genetic Alliance’s Platform for Engaging Everyone Responsibly (PEER) and collects self-reported information about the lived experiences of JSRD. PEER provides granular and dynamic consent in a space for patients and caregivers to share what it is like to live with JSRD. The main goal is to increase quality of lives.

Ancestry and genetics, as they relate to practical manifestations, may provide patient-reported correlations of JSRD. This is a preliminary report of one of the many outcomes that are possible.

Methods: The JS-LIFE PEER portal specific for JSRD collects self-reported patient data and experiences in a platform that provides dynamic consent and immediate results for patients and their caregivers. This preliminary report shows how a small organization like the JSRD Canadian Group, along with JSRDF, can engage a strong population of patients, retain their participation, and harness big data in their small numbers to drive large patient-reported outcomes.

Discussion: Patient powered research networks are communities of patients, providers and researchers who work together to identify new ways to do research directly relevant to patients and their families.

By having tools such as JS-LIFE to interact with individuals who live with genetic conditions, a dynamic relationship is built where patients are able to contribute  a variety of information—with trust— in the context of their daily lives. The result is a searchable database of medical, epidemiological, and genomic data linked to a plethora of other subjective information which are essential to personalized medicine for genetic conditions. JS-LIFE allows critical longitudinal follow-up over time, enabling contact between individuals and researchers interested in their genotype (genome) or phenotype (symptoms). In turn, when allowed by participants, PEER facilitates the addition of de-identified information into various research platforms, enabling professionals to screen for and contact them for research studies.

Truly harnessing big data by pairing it to medical histories and shared experiences will empower researchers to better understand these conditions and help to uncover more relevant treatments and interventions for patients. The breadth of information and the extent to which it is shared by users of JS-LIFE will be the determinant of possible outcomes and to change perspectives and opportunities in JSRD research. Participants are not only central to, but inherently drive, the process.

Research Outcomes: JS-LIFE is a powerful tool for engaging individuals with JSRD and their caregivers. By analyzing lived accounts of the patient’s condition, researchers can better identify the daily challenges posed by JSRDs and enhance the care they provide. Opportunities for future research studies have great potential to shift towards outcomes that yield better treatments and interventions to alleviate the effects of JSRD.

JS-LIFE is IRB-approved and is part of the Community Engaged Network for All (CENA) patient-powered research network (PPRN): an initiative of Genetic Alliance and funded by PCORI