Whole people. Meaningful questions.
For patients, families & caregivers
A diagnosis tells part of a story. The rest unfolds at home, at school, in appointments and in the routines that make a day possible.
It includes difficulties, but also relationships, interests, progress and moments worth protecting.
Comfort. Communication. Rest. Choice. Taking part in something you enjoy. The priorities differ between people, and they can change over time.
Rare Strategies is developing a research approach that connects scientific evidence with everyday life. People living with rare conditions and their families should help shape the questions, the ways we measure change and how findings are explained.
We want to ask: What matters most to you? What do clinic visits miss? Which changes would you notice? What would make participation worthwhile, and what would make it too much?
People should have ways to contribute directly, with communication support where needed. Caregiver observations add valuable information alongside the person’s own perspective.
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Bring together published research, existing care guidance and unanswered community questions. Where guidance is missing, support a collaborative process with clinicians, researchers, patients and families to develop and evaluate recommendations.
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Start with people’s priorities. Use accessible conversations and carefully designed research to decide which questions and changes are meaningful.
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A study might use a short diary, a questionnaire, clinical measurements or an appropriately evaluated device. The choice should follow the question and the people taking part. Families should help decide what is manageable. Missed entries are a research challenge, not a failure by a family.
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A change after an intervention might reflect that intervention, another change, natural variation or several influences together. Researchers need to compare explanations. An average result may not describe one person.
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Turn findings into better research priorities and studies. Explain what was learned, what remains uncertain and what should happen next. Research findings and personal medical advice serve different purposes.
Depending on the condition and individual, sleep, movement, feeding, digestion, pain, communication or other aspects of health and life may matter. Research should connect the relevant expertise around the person.
Genetics, development, health, support and daily circumstances can interact. We can study ways to improve support while research into disease mechanisms continues. This does not mean families caused a condition, that every difficulty can be changed, or that a change at home is automatically a treatment.
Decisions about care belong with the person, their family where appropriate and their clinical team.
Evidence in Context · In development
We are developing the questions, methods and collaborations for this research initiative. There is no study enrollment announced here, and this website does not provide individual clinical care.
Before anyone considers a future study, its information should explain the following:
People & activities
The named study team, the purpose, what you would do, how much time it takes, possible costs or reimbursement, risks and accessible alternatives.
Ask about the research approachInformation & results
What is collected, who can access it, how it is protected and how long it is kept, how sharing and withdrawal work, and what study findings—or individual results, if any—can be returned. These details need to be established for each study.
Read Science NotesMeasurement
A precise number still needs to answer a meaningful question.
Read the noteUnderstanding evidence
Why a relationship between two things does not, on its own, establish cause.
Read the noteDaily life
How lived experience can help shape natural history research.
Read the noteThese independent organizations and information sources may be useful starting points. A listing does not indicate a formal partnership or endorsement.
SCN8A community, condition information and research resources.
Education, caregiver connections and research information for developmental and epileptic encephalopathies and severe neurological impairment.
The organization bringing together the Alliance, DEE-P Connections and Inchstone Project programs.
Rare-disease information, advocacy and patient and caregiver resources.
NIH rare-disease information and help locating resources.
Search registered research studies and reported results. A listing is not government approval of a study’s safety or scientific quality.
Research collaborations will be identified separately when relationships are confirmed.
Share a research priority or a general collaboration question. You do not need to tell your family’s medical story through a website form.
Start a conversation through our inquiry form. Please leave out medical records, identifiable health information and confidential research data.
Open inquiry form