Hello,
Welcome. My name is Daniel Piqué. I am a clinical geneticist and I write the StudyRare newsletter, which contains practice questions for genetics board exams.
StudyRare is starting a podcast with the goal of hosting an audio version of the newsletter posts as well as sharing additional educational content relevant for genetics and genetic counseling trainees.
The StudyRare Podcast is now available on Spotify and Apple podcasts. You can also find our podcast’s homepage by going to studyrare.substack.com and clicking on the “StudyRare Podcast” tab at the top.
This week, I am at American College of Medical Genetics (ACMG) meeting in Los Angeles. I wanted to use this opportunity to highlight a few talks for those who aren’t able to make it or who are still planning their schedule.
In this podcast, I discuss 3 sessions that I think are interesting for trainees on the first day of the conference (Tue, Mar 18). These talks include:
The “Genomic Explorations” workshop, which is divided into 2 parts: cytogenetics (10am-1pm) and molecular genetics (2pm-5pm). While the workshop is intended for laboratory geneticists, it seems to be a great opportunity for anyone looking to brush up on their knowledge of laboratory techniques. The workshop will be led by over a dozen faculty trained in laboratory genetics including the newly-appointed CEO of ABMGG, Dr. Azra Ligon.
A session titled “Back to Basics: The Physical Exam is the Cornerstone of Precision Medicine.” This session will cover the fundamentals of the genetics physical exam, an important part of the genetics evaluation. A thorough physical exam can help narrow your differential diagnosis, guide what testing you should send, and help with variant interpretation. In some cases (e.g. tuberous sclerosis, NF1), a diagnosis can even be confirmed based on the history and physical exam alone. The panel session features 4 geneticists who will each cover one topic: nose/philtrum, trunk/limbs, hands, and pigmented lesions.
A session titled “Challenging No More: Simultaneously Tackling CMRGs and Methylation,” sponsored by Oxford Nanopore, will explore approaches to sequencing Challenging Medically Relevant Genes (CMRGs). These genes are difficult to analyze with traditional short-read sequencing methods due to repetitive sequences or the presence of pseudogenes (e.g., SMN1/SMN2 in spinal muscular atrophy). Oxford Nanopore is one of 2 main companies (PacBio being the other) that develop long-read sequencing technology (for reference, Illumina is the main company that develops short-read sequencing technology). Long-read sequencing has the potential to consolidate many of the assays that we send separately (e.g. DNA sequence analysis, structural variant analysis, and DNA methylation) into a single test.
Even if you are not attending, you can still view the full program here.
If you see me at the conference, please feel free to say hello. It would be great to connect in person!
Daniel
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