Date & Time: June 7, 2022 | 10:00 am PT
Location: Online
Presenters: Dr. Vineet K. Dhiman and Dr. Robin Everts

Sponsored by Agena Bioscience^®

When cystic fibrosis is diagnosed early, patients can avoid most of the clinically severe adverse effects. Fortunately, newborns can be screened for a range of disease-causing mutations that occur within the CFTR gene.

In this webinar, Dr. Vineet K. Dhiman will present their study of population-based newborn screening to detect common and rare CFTR mutations associated with cystic fibrosis. The discussion will include a novel assessment of the high-throughput analysis system used in the study in terms of robustness and reliability. Dr. Dhiman will also cover various cystic fibrosis screening and diagnosis methods including those recommended by the American College of Medical Genetics.

Additional Topics:

• Obtain insights into how early genetic screening can be used to diagnose cystic fibrosis (CF) in newborns.
• Learn how CF-related mutations in the CFTR gene can be reliably determined from dried blood spot samples using a high-throughput analysis system.
• Evaluate how the MassARRAY^® System performed in a study to identify rare mutations associated with positive cystic fibrosis diagnosis.

Dr. Vineet K. Dhiman and Dr. Robin Everts will be available to answer questions.

Presenters:

Dr. Vineet K. Dhiman

Laboratory Research Scientist, Illinois Department of Public Health (IDPH)

Vineet Dhiman is a Laboratory Research Scientist at the Illinois Department of Public Health (IDPH), contributing to laboratory efforts of newborn screening and infectious diseases. Dr. Dhiman’s work at IDPH covers molecular-based newborn screening assays, COVID-19 testing, foodborne outbreak surveillance, and R&D of next-generation sequencing for utilization in a public health capacity. In addition, Dr. Dhiman has a background in oncology, performing cutting-edge research in support of the ENCODE project and furthering the molecular understanding of nuclear-receptor signaling pathways in hormone-responsive cancers.

Dr. Robin Everts

Scientific Affairs, Agena Bioscience

Robin Everts trained as a molecular geneticist and has published 48 peer-reviewed articles in different fields including gene expression in immunology, developmental biology, pharmacogenetics, and gene mapping. He has, for the last 10 to 15 years, focused primarily on improving and expanding the pharmacogenetics and clinical genetics capabilities of the Agena Bioscience MassARRAY Analyzer platform. Some of the products he conceived are the ADME PGx Pro Panel, the VeriDose Core Panel, and the VeriDose CYP2D6 CNV panel, as well as panels for CFTR and Ashkenazi Jewish gene mutations. He is a member of AMP, CPIC, PGRN, and CLSI. He is also a contributor to the CDC’s Genetic Testing Reference Materials Coordination Program.