Treating rare diseases just got a shortcut
We are revolutionizing the
diagnostic odyssey for rare diseases
Phase 1 | Raring to Go
Now open, patients and clinicians are invited to join the IDG community.
Phase 2 | Clinical Intake
Patients work with a clinical provider to submit detailed health information and a bloodspot
Phase 3 | Sequencing
Your DNA is sequenced to gain molecular insights about your condition
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.