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Big data computing underlies discovery of genome-phenotype correlations
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A History of Advancing Clinical Care
In-Depth Genomics builds upon a legacy of raising standards for rare diseases. Our collective experience in patient support, industry collaboration, and biomedical research develops a program poised to make sense of the complex relationship between health and genetics.
Plavi Mittal, PhD founded IDG to expand the success she brought to treatment and diagnosis of LGMD2B – a rare muscular dystrophy. Plavi established the Jain Foundation in 2005 to place this under-studied disease in clinical development pipelines. During her time there she grew a strong patient community and instilled a unique funding model to support cutting-edge research. It quickly became obvious that a better understanding of LGMD2B was required to both develop new therapies and diagnose patients. The Jain Foundation launched a worldwide natural history study involving 200 patients and 15 clinical research centers, and this program is still going strong after 7 years with a retention rate of ~95%. A genetic screening program was implemented in the US through a network of ~1,000 clinicians, representing patients with undiagnosed neuromuscular symptoms in all 50 states. In total 2,500 patients with LGMD2B-like symptoms were screened for 35 genes causing LGMD2B-like diseases. This work confirmed what had been suspected for decades: (1) the similarity of symptoms between many rare diseases complicates diagnosis, and (2) even patients with identical disease-causing genetic mutations have differences in their symptoms.
IDG addresses these discrepancies through deep phenotyping and genomic sequencing, and Plavi has recruited two scientists as co-founders in this mission. Nilah Ioannidis, PhD and Nicole Bowman, MS have training in biomedical research and want to deliver revolutionary technologies to rare disease communities. Nilah is a postdoctoral fellow at Stanford University School of Medicine where she pioneers techniques to interpret personal genomes and predict health outcomes. Nicole’s graduate training and research at the University of Pennsylvania Perelman School of Medicine developed proteomic methods to uncover differences in the brains of patients with schizophrenia. Both Nilah and Nicole hold a deep respect for the power of big data and patient-driven research.
By bridging the gaps between patients, clinicians, and researchers IDG catalyzes discovery.
IDG's value proposition
There is no one-size-fits-all approach to health, so we aren’t building a program to ask just one question. Our platform unites patients, physicians, and researchers from around the world to identify the most pressing questions in rare disease. A state-of-the-art sequencing program is directed by Dr. Madhuri Hegde at PerkinElmer, a world leader in clinical genetics. Streamlined for US patients, the sequencing pipeline is scalable and agile thanks to advanced approaches like the Illumina NovaSeq platform and a flexible HPO-based genome interpretation method.
We aren’t the first to try to solve mysteries in health through genetics and deep phenotyping – our partners and advisors have been developing a deep expertise in these fields for decades. Their commitment is to our patient-driven model, and they work to uphold trailblazing standards across IDG programs. Innovators at Stanford University oversee our data collection protocols for personalized/big data analyses, and ConceptualEyes, our technology partner, uses AI and natural language processing to unite disparate data sources by “reading” scientific language. As a central hub, IDG directs research to improve patient identification and discover new therapeutic targets.
Whole genome and clinical data
IDGs is on a mission to create a rich data set through genetic testing and deep phenotyping. Whole genome sequencing offers a more complete view of an individual’s genetic susceptibilities, providing the context missing from traditional resources limited by single-gene or panel-based data. Physician engagement refines the clinical relevance of our programs, and also gathers unique data about hurdles in patient care. Combining physician’s data with self-reported information from patients generates the deep data required to train AI that can uncover new avenues to improve care.
Past success roots our leadership in rare disease communities across the US. A vast network of clinicians has seen the power of free and efficient genetic testing for neuromuscular disease, and they report that tens of thousands of patients stand to benefit from genomic testing. They are rallied to help us provide this access, and we collaborate closely with our medical advisory team to create a program streamlined for clinical practice. Patients in our community spend years wandering the diagnostic odyssey, and all too often we see even the diagnosed without a clear path towards treatment. Their battles define our focus, and the support of their family + friends seeds our phenotyping program.
Engaged Patient Community
When you listen, people notice. Our community provides the insight we need to deliver programs with both immediate and long-lasting impact. In our diagnostic program delivery of the clinical report is not the end of the conversation; in fact, is it the beginning. Through our genetic counseling and on-going research programs, we continually reach patients to update their clinical report with new findings and share emerging research programs. We strive for transparent communication with our community to convey the importance of their personal stories in creating the next medical breakthroughs.
Cost Effective Operations
It is central to our philosophy that we spend each dollar to grow the most value for our patients, collaborators, and investors. Having run a 501(c)3 non-profit foundation for 12 years, CEO Dr. Plavi Mittal brings a mindset of frugality and efficiency. By collaborating on massive endeavors like free sequencing programs and deep phenotyping, we share costs to expedite big data generation and deliver a practical modern technology to aid those marooned by traditional treatment paradigms.