Diagnosing rare disease just got a shortcut.
Individual differences color the narrative of health and disease.
The data are big. The applications are bigger.
Get in at the beginning of the end of many diseases.
previous arrow
next arrow
Slider

Proven Technology

Interpreting DNA can help diagnose complex symptoms and expand your treatment options

Patient-Driven

Become a member of the In-Depth community: share your story, find support, improve research

Modern Research

Uniting patients with leaders in medical research to improve and innovate healthcare options

The In-Depth Difference

11

People Focused

Finding a diagnosis may seem intimidating, but you’re not alone. Nearly 1 in 10 Americans are affected by a rare disease. We unite patients and innovators with resources to improve healthcare.

2

Modern Tools

Genomic sequencing alone rapidly diagnoses thousands of diseases. Our research programs continuously identify new associations between health and genetics to expand this capability.

3

Bridging the Gap

Gaps in data lead to gaps in care. Our programs are designed to support deep phenotyping - a research approach that captures the complete spectrum of possibilities for a trait. This reveals patterns in health and genetics to spur faster, more accurate diagnosis.

4

Rigorous Analytics

We grow collaborations to do science at scale. Integrating state-of-the-art technologies expands research horizons by increasing the sheer amount of data we can collect and analyze. Big data, machine learning, AI - these are just a few of the methods redefining medical research.

5

Counseling & Support

Genetic counselors and advocacy networks unlock the full potential of genetic testing. Reaching beyond the clinic, these leaders in patient care are also key opinion leaders for rare diseases by providing insights to the hurdles of diagnosis, care, and treatment availabilty.

6

Lasting Impact

Rather than focusing on a few small regions of DNA, whole genome sequencing provides the entire DNA sequence. Because we've already generated the hard part - the sequence - we can keep asking new questions with the same data. This allows us to update diagnostic reports to keep pace with emerging findings.

We're Raring to Go! 
Are you?

Join our rare disease registry

Expand the narrative of health + disease

Share your story today

The Latest