Mendelspod Podcast Theral Timpson

A paper out this week in Nature Methods demonstrates a new technology which shows novel patterns of protein spatial polarization and co-localization in immune cells. The technology launched by Swedish startup Pixelgen has been dubbed “molecular pixelation” because it uses DNA pixels to tag and reveal relative locations. Unlike most other spatial technologies, molecular pixelation does not involve microscopy.Lead author of the paper, Filip Karlsson, joins us today to explain the technology and how it might enable new proteomics research.  He says that immunology is a great application area.How does this technology fit in the spatial landscape, and how might it enable new medicine that could impact patients?


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Damon Hostin has had an active and exciting journey in genomic medicine.  He’s now at Illumina, where his title is illuminative:  Lead, Health System Market Access.A regular on the precision medicine stage, Damon has some insights into what he calls the “blindingly fast progression” of genomic medicine that should convince the most jaded of its critics.  Compared to other areas of medicine, we are witnessing a rapid uptake of new science.  
Damon’s biography includes work at Celera in the age of the Drosophila and Human Genome papers and at a large community health system, Catholic Health Initiatives, where he was in charge of precision medicine.   At Illumina, he’s part of the large vision of seeing that genomic medicine has every chance at adoption.Today, we ask Damon what has changed about access to genomic testing in the past five years and where we are seeing success. Damon brings a refreshingly optimistic viewpoint to the show. We talk about everything from PGx testing to whole genome sequencing, which he calls an “amazing win” for reimbursement.


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Sarah LeBaron von Baeyer studied anthropology at Yale. Today she serves as the Director of Ethics Engagement at the new drug development company, Variant Bio, not a job she ever imagined at university.

In today’s show, we talk with Kyle Fahr, the VP and Distinguished Scientist leading Illumina’s Artificial Intelligence Lab.
"We lack a way of training genomics AI as readily as you would for natural language processing, says Fahr.  "There are vast amounts of data, but there are no labels, no supervision.  One of the most powerful tools that we’ve found is using clues from natural selection.
Fahr says the company began the AI lab seven years ago when deep learning took 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 to become widely used by clinical labs and researchers in interpreting variants of unknown significance.  
We take a close look at Illumina’s work in AI and delve into the long-term impact of AI on genomics.


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Today, we continue our look into the gap in the adoption of precision medicine. Why are those who need it not getting genetic testing? Patrick Short is the Host of The Genetics Podcast and CEO and Co-founder of Sano Genetics.

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Through its Center for Personalized Medicine, the University of Colorado Health offers its 2.2 million patients some of the country's most advanced precision medicine initiatives.