Rare diseases affect millions of people around the world. Dr. Matt Might is Professor and Director of the Hugh Kaul Precision Medicine Institute at the University of Alabama Birmingham. His son, Bertrand, was the first person to be diagnosed with NGLY1 deficiency, an ultra-rare disorder. Matt joined me to discuss Bertrand’s diagnostic odyssey and the impact of genomics on rare disease research.

Rare Disease and the Diagnostic Odyssey

Hear directly from the people whose work in genomics is shaping the way we think about science and our world. Listen as leading scientists discuss the impact of genomics with the Illumina Scientific Affairs team. Download or subscribe to our recurring podcasts.

Science

Life Sciences

In this podcast, Mendelspod’s Theral Timpson speaks to Cara Statz from JAX and Erica Schnettler from Illumina about how their combined technologies are helping researchers and oncologists deal with the increasing complexity of cancer genomic data. They discuss oncologists' experience dealing with an overwhelming amount of new scientific data, and both guests give their advice for new labs setting up cancer testing and oncology clinical research.

Two Industry Leaders on the Growing Complexity of Genomic Cancer Data

In this podcast, Mendelspod’s Theral Timpson speaks to Kyle Farh, VP and distinguished scientist leading Illumina’s Artificial Intelligence Lab.  Farh says the company began the AI lab seven years ago when deep learning was just taking off. Two of the team’s AI algorithms, PrimateAI-3D and SpliceAI, published in Cell and Nature Genetics, were among the first examples of deep learning algorithms in genomics.  This interview takes a close look at Illumina’s activities in AI and delves into the long-term impact of AI on genomics.

How Do You Train Genomics AI? On Natural Selection Itself, Says VP of Illumina's AI Lab, Kyle Farh

In this podcast, Mendelspod’s Theral Timpson is joined by Sam Strom, a principal scientist at Illumina with a background in clinical testing. In this interview, Sam addresses two of the big challenges in clinical sequencing, which are variant calling and variant interpretation. Sam says Illumina has created its own multi-sample genomic reference and is also making use of artificial intelligence to improve variant calling. He also shares how Illumina supports scaling variant interpretation for genomes and other assays with an AI and automation comprehensive solution, enabling high-quality genetic testing workflows to reach next level accessibility.

Illumina Scales Variant Calling and Genome Interpretation to Improve Gaps in Genetic Testing

Atocha Romero, PharmD, PhD, explains the value of liquid biopsy-based comprehensive genomic profiling. Dr. Romero provides an overview of the results of the NADIM II clinical trials and discusses ctDNA testing to monitor disease and guide treatment.  Atocha Romero, PharmD, PhD, is the director of the Liquid Biopsy Laboratory of the Medical Oncology Department at the Hospital Universitario Puerta de Hierro in Madrid, Spain.

Clinical utility of ctDNA testing in lung cancer

Jeanne Tie, MD, discusses the DYNAMIC trial and areas of unmet needs for minimal residual disease (MRD) to become the standard of care for patients with colorectal cancer. The DYNAMIC trial showed that a ctDNA-guided approach reduces the use of adjuvant treatment in patients with stage II colon cancer without compromising their clinical outcome.    Jeanne Tie is a medical oncologist and professor at Peter MacCallum Cancer Centre.

Rare Disease and the Diagnostic Odyssey

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