Treating rare diseases just got a shortcut

Registration open for all patients and clinicians.
We’re raring to go! Are you?

We are revolutionizing the
diagnostic odyssey for rare diseases

Scope

Phase 1 | Raring to Go

Now open, patients and clinicians are invited to join the IDG community.

Collect

Phase 2 | Clinical Intake

Patients work with a clinical provider to submit detailed health information and a bloodspot

Genomics

Phase 3 | Sequencing

Your DNA is sequenced to gain molecular insights about your condition

Discover

Phase 4 | Data Analysis

Once enough genomic data is collected we analyze it to inform diagnostics and research

In-Depth Genomics wants to understand the links between genetics and rare disease.

Genetic sequencing is raising standards for diagnosis and care

Whole genome sequencing reads over 85% of a person's DNA, more than 2.7 billion base pairs. Clinical geneticists compare each of these bases with patterns, called variants, known to change the DNA's function. Some of these variants are known to cause disease.

For thousands of rare diseases, variants in the DNA provide a precise diagnosis. For others, the link between genetics and health is more complex. It's common that many variants may increase risk for a single disease, yet no single variant alone can cause the disease directly. Other factors, like genetic elements or lifestyle choices, can influence this risk.

1 in 10 people have a rare disease

Genomic testing has the power to diagnose more than half of the 7,000 'rare' conditions that collectively affect more than 30 million people in the US alone. By integrating genomic results with their practice, physicians are better prepared to place patients on effective treatment plans. 

Despite the capabilities of genetic testing, patients wait an average of 7 years to receive a diagnosis for their rare neurological symptoms. This is more than a delay in diagnosis - it's a delay of intervention. Targeted therapies, especially for symptoms that affect young children, sometimes change prognosis...if they are implemented early enough. It is critical that we find a more efficient way to diagnose the rare disease community.