In-Depth Diagnostics
| File:In-Depth Diagnostics Logo.png | |
| Founded | December 2016 |
|---|---|
| Founder | Plavi Mittal |
| Type | Private Operating Foundation |
| Location | |
| Website | http://www.indepthdiagnostics.org/ |
In-Depth Diagnostics (IDD) is a non-profit organization founded by Plavi Mittal[1] and located in Bellevue, Washington. Its mission is to improve care for patients with rare diseases by providing them with a genomic diagnosis.[2] In-Depth Diagnostics funds whole-genome sequencing for patients with rare, undiagnosed neuromuscular diseases.[3]
History[edit]
In-Depth Diagnostics was founded in 2016 after Plavi Mittal left the Jain Foundation.[4]. In-Depth Diagnostics is a continuation of the Jain Foundation's mission.[5] In 2014, the Jain Foundation, along with a consortium of other LGMD foundations, started a program to offer free genetic testing to provide a diagnosis to patients with muscle weakness.[6] The success of this program[7], revealed a broader need for genetic diagnoses, and Mittal started IDD in order to address that need.[8] The plummeting cost of genomic sequencing allowed IDD to provide whole genome sequencing for free.[9]
Program[edit]
Currently, all patients of any age in the U.S. are eligible to apply for In-Depth Diagnostic’s sequencing program[3]. After patients are referred to In-Depth Diagnostics by a physician, they submit a DNA sample. In-Depth Diagnostics does next-generation whole genome sequencing along with reflex biochemical assays in order to provide the patients with a specific and accurate genetic diagnosis. The diagnostic service, along with genetic counselors who support the patients and advise them on their new genetic diagnosis, is free.
Advisors[edit]
In-Depth Diagnostics is advised by a range of scientific and medical experts [10], whose fields of study include genetics, neurology, neuromuscular disorders, and more. The board consists of Matthew Wicklund, Matthew Harms, Chamindra Konersman, Alice Whittemore, and Madhuri Hegde, who also conducted dysferlinopathy research for the Jain Foundation.[11] Hegde, a geneticist, and Wicklund, a neurologist, also worked on the Jain Foundation's genetic testing project with Mittal.[12]
References[edit]
- ↑ "Biography of MDCC Members". Muscular Dystrophy Coordinating Committee. NIH. Retrieved 10 May 2017.
- ↑ "Vision." In-Depth Diagnostics.org. Retrieved 10 May 2017
- ↑ 3.0 3.1 "Our Program." In-Depth Diagnostics.org. Retrieved 10 May 2017
- ↑ Jain Foundation, "About Us."
- ↑ "A Record of Advancing Clinical Research". In Depth Diagnostics. Retrieved 10 May 2017.
- ↑ "Consortium of LGMD Family Foundations Offers Genetic Testing for Patients with Muscle Weakness". Business Wire. Business Wire, Inc. Retrieved 10 May 2017.
- ↑ Radke, James. "Free Diagnostic Tool to Help Physicians Identify Limb Girdle Muscular Dystrophy Subtypes". Rare Disease Report. Rare Disease Report.
- ↑ "Biography of MDCC Members". Muscular Dystrophy Coordinating Committee. National Institutes of Health. Retrieved 10 May 2017.
- ↑ Mittal, Plavi (March 2017). "Changing the Diagnostic Story of Dysferlinopathy". Neurology Reviews: 38–39. Retrieved 10 May 2017.
- ↑ "Scientific & Medical Advisors." In-Depth Diagnostics.org. Retrieved 10 May 2017
- ↑ "Madhuri Hegde, PhD". Jain Foundation. Stoneward. Retrieved 10 May 2017.
- ↑ "Consortium of LGMD Family Foundations Offers Genetic Testing for Patients with Muscle Weakness". Business Wire. Business Wire, Inc. Retrieved 10 May 2017.
External Links[edit]
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