Why Should You Participate in Research?

Patient-centered research is critical to finding life-changing treatments. We can improve the lives of people with Kabuki syndrome by partnering with researchers. But it’s going to take all of us.

What does research for rare disease look like?

Scientific research can be exciting - and overwhelming. Before we talk about clinical trials and new medications, let’s remember that research is also about gaining a better understanding of Kabuki syndrome.

Defining the natural history of Kabuki syndrome.

  • Natural history refers to the expected progression of symptoms in a disease across a lifetime. What symptoms are most likely, when, and how severe can they be? Are people born with all their symptoms or do people develop more symptoms in puberty or in adulthood?
  • Once the symptoms are defined, we can define clinical management guidelines so that in a clinic appointment or hospital visit, your provider could reference a publication with combined Kabuki syndrome treatment knowledge from all over the world.
  • Through research, we can have a road map of what to expect, what to screen for at what age, and what the best treatments are for people with Kabuki syndrome.

Understanding the cellular mechanisms of Kabuki syndrome.

  •  For example, if we look at muscle cells from mice with Kabuki syndrome, does that explain why people with Kabuki syndrome have low muscle tone?
  • Researchers aim to understand the  cells and their processes in all body systems that are affected in Kabuki syndrome.
  • By understanding the specific cellular mechanisms involved in Kabuki syndrome, researchers can develop more effective treatments and therapies for people with the syndrome.

Patient-centered research is the only path forward.

Dr. Brittany Simpson highlighted the importance of patient-centered research at our 2021 Research Conference.

From The Patient Perspective

Kristin and Mathew share their experiences as Kabuki syndrome research participants.

Your Role in Clinical Trial Design

Dr. Adam Hartman from the NIH illustrates why patients and their families are key to clinical trial design at our 2022 Research Conference.

Ready to Find An Opportunity that Fits Your Family?

Or more information about the symptoms and genetic cause of Kabuki syndrome? You can start today.