rare disease day

Exome Sequencing Reveals Misdiagnoses in Epidermolysis Bullosa Patients

A Brazilian sequencing program for EB patients brings access to more accurate diagnoses and better treatment
Article

DEBRA International has a simple mission: help patients and families dealing with epidermolysis bullosa (EB), a rare genetic condition that affects collagen production, making skin and other membranes quite fragile.

In EB cases, the slightest pressure can cause skin damage, but it’s also a systemic disease, since the collagen protein is vital for many tissues. Even the wrong kind of meal can cause intense gastrointestinal distress for EB patients.

“The World Expands”: Celebrating Rare Disease Day in Japan

Through an organization called ASrid, patient families find connection and hope
Article

Ahead of Rare Disease Day, Illumina is recognizing four rare disease patient organizations around the world. ASrid is the third in our series this month.

The kids in Kanade Kawagoe’s elementary school class were excited to see a Polaroid camera for the first time. “The children, who are used to being photographed with their cell phone cameras, waited with sparkling eyes for the photos to come out of the camera,” says Naomi Kawagoe, Kanade’s mother. “The sight of these children was awe-inspiring.” The Kawagoes were photographing a day in the life of rare disease.

Illuminating Rare Disease: Get to Know SLC6A1 Connect

US-based patient families describe their diagnostic journey and living with a rare neurological condition
Article

Ahead of Rare Disease Day, Illumina is recognizing four rare disease patient organizations around the world. SLC6A1 Connect is the first in our series this month.

Rare Diseases Are Not That Rare

Article

People affected by rare diseases often face extraordinary barriers. They can find it difficult to get the right diagnosis, expert advice or treatment and support. It’s challenging – especially when they are trying to cope with the uncertainty of an often progressive, devastating and debilitating disease. But the complexity of these conditions, and the small number of patients affected, means this area of research doesn’t always attract the greatest interest.

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