Genomenon Launches Genetic Disease Sponsorship Boost Rare Disease Diagnosis

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Actionable Evidence Fuels Genetic Disease Recognition and Scientific Progress

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Ann Arbor, MI - July 11, 2024 - Genomenon, a leader in genomic intelligence, today announced the launch of its Genetic Disease Sponsorship program. This groundbreaking initiative aims to raise awareness, facilitate earlier diagnosis, and drive scientific advancements for genetic diseases.

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Through this program, Genomenon offers its extensive network of over 2,000 clinical laboratories in more than 140 countries exclusive access to genetic variants specific to a sponsor's disease of interest. This network accelerates the diagnostic process, benefiting patients and advancing scientific knowledge.

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"Early and accurate diagnosis is crucial for individuals living with genetic diseases," said Dr. Mark Kiel, CSO and co-founder of Genomenon. "Our Genetic Disease Sponsorship programs provide easy access to critical evidence that enables faster, more accurate interpretation of genetic tests, thus promoting disease awareness and increased diagnostic rates."

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Early partners in Genomenon’s beta program are passionate about the Genetic Disease Sponsorship’s mission:

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“Pharming’s dedication to serving patients with rare diseases is the driving force behind forming partnerships with companies such as Genomenon,” said Heather McLaughlin, Senior Director of Molecular Diagnostics at Pharming. “By providing laboratories and clinicians with comprehensive and clear variant interpretation data, we help ensure patients with APDS receive earlier, more accurate diagnoses and appropriate medical management. Pharming is unwavering in its commitment to rare disease patient populations and supporting the caregivers and doctors who serve these patients daily.”

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Using its Mastermind Genomic Intelligence Platform, Genomenon delivers a locus-specific database that identifies the most comprehensive set of causative variants for a specific disease. These rich genomic data—known as variant landscapes—complement Pharming’s efforts by enhancing the accessibility and understanding of the genetic underpinnings of APDS.

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Key benefits of the Genetic Disease Sponsorship include:

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• Expanded Awareness of Disease: Participation helps raise awareness about specific genetic diseases, leading to better understanding, earlier diagnosis, and improved patient outcomes.
• Promoting Increased Diagnosis: The sponsorship facilitates the diagnosis of genetic diseases by providing access to genomic data and an established clinical network, increasing the chances of accurately diagnosing rare or complex conditions.
• Immediate Access to an Established Clinical Network: Participants gain access to a vast network of over 2,000 clinical labs in 140 countries worldwide.
• Contribution to the Scientific Community: Sharing genomic data and insights advances scientific research. Organizations contribute to the collective knowledge about genetic diseases, potentially leading to breakthroughs in treatment and prevention.

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Genomenon is committed to advancing healthcare and improving lives by making genomic information actionable. The Genetic Disease Sponsorship program exemplifies this mission by fostering collaboration, raising awareness, and driving scientific progress.

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More information on Genomenon and the Genetic Disease Sponsorship program, may be found here.