CENTOGENE highlights solutions for early diagnosis of rare hereditary disorders at the 2nd Annual Recent Advances in Rare Disease Conference.
CENTOGENE, the worldwide leader in elucidating rare disease genetics for patients, clinicians and pharmaceutical partners, announced that its researchers will be giving a series of presentations focused on solutions for the systematic testing of risk populations. The second annual Recent Advances in Rare Disease (RARD) conference, “Frequently Misdiagnosed Hereditary Disorders” be held in Delhi/India on May 3-5 will bring together worldwide experts, scientists and clinicians to discuss and exchange experiences, network and highlight the direction of the future development in the field of hereditary diseases. The meeting will address especially the translational processes from the bench to the patients and is sponsored by Shire, Pfizer and CENTOGENE.
Data presented at the RARD conference will highlight the role of biomarkers in the diagnosis of rare diseases, based on CENTOGENE´s special expertise in lysosomal storage disorders (LSDs) and provide an overview of future of new biomarkers development using mass spectrometry. CENTOGENE researchers will also unveil strategies for the systematic testing of risk populations using a range of technologies, as well as present the Dry Blood Spot (DBS) technology for early detection of alpha-mannosidosis deficiency. “At CENTOGENE, we are committed to helping patients receive the earliest diagnosis possible and we are excited to share with the global conference attendees the same goals and dedication to improving the lives of our patients suffering from rare diseases,” said Prof. Arndt Rolfs, CENTOGENE’s CEO and founder, who is also delivering the opening lecture at RARD. “The networking and experience exchange between the scientific community is a crucial part in the future of personalized medicine and orphan drug research and development.”
The projection for scientific exploration, clinical application and development of new treatments has been developing at a rapid pace over the past years, despite the complexity of rare diseases, the limited natural history data and the smaller pool of patients to participate in clinical development. With the goal of transforming the worldwide science of genetic, clinical and R&D data into answers, the RARD conference gathers an international audience and speakers from approximate 50 nationalities, bringing together international researchers and clinicians interested in the latest advances in the field of hereditary diseases.
CENTOGENE unlocks the power of genetic insights to improve the quality of life of patients with genetic diseases. We achieve this through knowledge created by our worldwide diagnostic testing services incorporating global diversity, the world’s leading proprietary human genetic interpretation database, CentoMD® and solutions for pharmaceutical companies developing life-changing orphan drugs.
As one of the most diversified and largest genetic testing companies worldwide, CENTOGENE is dedicated to transforming the science of genetic information into solutions and hope for patients and their families.