Diagnosing rare disease is a challenging task: the average patient waits 7 years for a diagnosis. That's 7 years waiting for a treatment plan.
We are pushing the limits of genomic research to revolutionize this diagnostic odyssey and catalyze clinical breakthroughs.
"Diagnosis is the first step of any treatment plan. Without precisely understanding a patient’s unique health factors, even the best physician struggles to provide first-rate care. Millions of patients suffering from rare diseases do not receive an accurate diagnosis for years after they begin experiencing symptoms. This life-threatening delay of care is unacceptable to me. It is unacceptable because doctors are stuck in a system that restricts the best medical care from certain patient groups; it is unacceptable because patients are not given the information required to seek these tools on their own; it is unacceptable because the technology and knowledge required to provide a conclusive diagnosis and targeted treatment plan already exist. IDD strives to upend the long and expensive traditional diagnostic process and replace it with a fast and simple program that is free to all patients. Genomic analysis has the power to provide a definitive diagnosis and gathers data critical to develop treatments for rare neurological diseases. I am driven to challenge the status quo and raise the standard of care for patients suffering from undiagnosed or rare diseases to precision medicine."
- PJM 2017
After a family member was diagnosed with a rare muscular dystrophy, LGMD2B/Miyoshi muscular dystrophy, Dr. Mittal helped create the Jain Foundation. Over the last 12 years, she has led the JF team as President & CEO, and together they partnered with dysferlinopathy researchers to realize gene therapy clinical trials and the hope for a cure. Repeatedly, Dr. Mittal has seen patients with rare disease struggle to reach a diagnosis and find a treatment best for them, despite the scientific breakthroughs advancing therapies for their condition.
Through In-Depth Diagnostics, Dr. Mittal will continue to support the mission of the Jain Foundation while addressing this larger patient need by providing genome-level sequencing and analysis. IDD's national diagnostic program is an unprecedented effort that will raise standards for diagnosing rare diseases and also fuel a research consortium focused on improving clinical care.
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