World Rare Disease Day: What It Means to be Rare

Christina Swords, Ph.D. · February 28, 2019 · Updated September 22, 2022

Edited by Christina Swords, Ph.D.

For rare disease patients, it’s the not knowing that hits the hardest.

How will the disease change the way their body functions? What medications will be used when only 5% of rare diseases have an FDA approved treatment? How will they adapt to living with a disease so unique, that only 50% of rare diseases even have a dedicated support group? As they navigate doctor appointment after doctor appointment, the questions never stop—and the loudest is “why is this happening to me?”

Today, the world focuses its attention on these patients during international World Rare Disease Day. World Rare Disease Day occurs on the last day of February every year and is highlighted across social media, legislative conferences, community events, and seeks to raise public awareness about the lives of people with rare diseases and the challenges they face. On this day, patients, medical professionals, caregivers, health advocates, and policy makers come together to discuss new ways to improve both care and quality of life for patients and their families.

Nebula Genomics has begun collaborations with multiple rare disease organizations to help accelerate medical breakthroughs.

The scientific community hit the ground running coordinating the unending project that is analyzing human genomes for the exact cause of disease. In the past ten years the cost of sequencing a human genome sunk from $10,000 to $1,000, inviting droves of patient communities to offer up their genetic data to researchers in hopes of creating intricate disease models that may help pharmaceutical companies and biotechnology companies in creating better treatments.

To understand these diseases: we have to understand every letter of their genetic makeup. We need to observe the disease in patients of every gender, age and ethnicity over time. We need to dissolve all barriers that keep individuals from speaking out and contributing their data to research. These barriers include access, protection of patient privacy, continuous updates on discovery from the scientific community to the patient community, and unparalleled transparency to give patients the respect and trust they deserve.

Ultimately, Nebula seeks to create a simple, convenient and secure way to share personal genomic data with medical researchers while compensating patients for their contributions. Over the next year, we will be working with organizations like Global Genes, The Rare Advocacy Movement, The Mighty, and Inspire to garner feedback on our sequencing services and the overall experience of patients using our platform.

Whether you’re one of the hundreds of thousands of people who has been diagnosed with a rare disease, a member of one of the rare disease patient groups, or just someone who wants to help change lives– you too can play a crucial role on this important day.

For more information on Nebula’s rare disease initiatives, you can read our press release here or explore the links below to learn more about what it means to be rare.