This week I’m attending the American Society of Human Genetics meeting in Houston, Texas.
If you’re at this meeting, please track me down. I’d love to connect with past colleagues and long-distance collaborators as well as anyone with an interest in rare diseases and epilepsy. I’m also a new incoming member of the ASHG 2019 Program Committee, so your feedback on meeting programming is welcome. Here’s where to find me.
Wednesday: Functional Validation of Rare Variants
This invited session (#22, 10:30-12:30 in Grand Ballroom A) brings together experts who have developed model systems for the functional validation of rare sequence variants:
- Len Pennacchio, on linking enhancer variation to human disease
- Erica Davis, on modeling pediatric genetic disorders in zebrafish
- Mark Hester, on using brain organoids to investigate rare neurological disorders
- Hugo Bellen, on applying Drosophila to study new disease variants and mechanisms
I’m moderating this session alongside Anne O’Donnell-Luria, and hope that we have a good turnout (with good questions).
Wednesday Evening: Scarlet and Gray Reception
The Ohio State University hosts a “Scarlet and Gray” reception on Wednesday, October 16th at 7:30-9:15 pm in Kingwood A (in the Marriott hotel). Everyone is welcome, even Michigan fans.
Thursday: Somatic Mosaicism in Affected and Unaffected Individuals
I’m giving a talk on our somatic epilepsy project s part of this session (#41, 9-10:30 in Grand Ballroom A) which highlights the role of somatic mosaicism in:
- Tissues of healthy individuals
- Parents of probands with pathogenic CNVs
- Brain tissue of pediatric epilepsy patients (my talk)
- Autism spectrum disorder probands
- Human pre-implantation embryos
- Parents of individuals with Mendelian disorders
Friday: Tangled Webs: Complex Regulatory Networks in Cancer
I’m the PC liaison for this session (#69, 9-10 in Grand Ballroom A), which brings together some interesting talks on gene expression and regulation in ovarian cancer, lung cancer, and pancreatic cancer, as well as immune regulation in common tumor types.
Saturday: Darin’s Tumor: Mutation and Selection in Cancer Genomes
I’m the PC liaison to this session (#102, 9:45-11:15) of abstract-driven platform talks on:
- Evolution in common tumors
- Unexpectedly high recurrent somatic mutation rates
- Complex focal amplifications
- Positive selection modeling for driver genes
- Gene networks under purifying selection
- Clonal lineages inferred from single-cell DNA sequencing
Lastly, I’ll be tweeting on the #ASHG19 hashtag as @MassGenomics.