Latest Events

10th Annual Mutational Scanning Symposium 2027

23 June 2027

Details coming soon!
9th Annual Mutational Scanning Symposium 2026

25 March 2026

Event jointly organized by: AVE and St Vincent's Institute of Medical Research
Fireside Chat

6 January 2026

Please join us for a special Fireside chat on January 6th, 2026

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Latest News

MSS 2026 Wrap Up: ‘Comprehensive Overview of Where the Field is Heading, with Cutting-edge Technological Advances’

1 April 2026

Lorenzo Vaccaro, a postdoctoral researcher at the Telethon Institute of Genetics and Medicine, offers observations and insights about the conference.
Q&A with Ambry Genetics’ VP on Sponsoring 2026 Mutational Scanning Symposium

25 March 2026

Success is the widespread integration of MAVE evidence to reduce the rate of VUS. 
How an MD-PhD Student With Hemophilia Made a Genetic Research Breakthrough

11 March 2026

Popp, 34, is now a graduate of the University of Washington School of Medicine’s MD-PhD degree program and a pathology resident at Mass General Brigham in Boston. While at UW, he helped develop a new technology with Doug Fowler, PhD, a researcher in the UW School of Medicine’s Department of Genome Sciences, and Jill Johnsen, MD, a researcher in the Division of Hematology and Oncology and a hematologist at UW Medicine, to decode one of the genes that causes hemophilia and find all the possible variants in it.

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Latest Podcast Episodes

Season 2 Episode 2: “From variants to voltage: channeling MAVEs to tackle disease

28 January 2026

How can different molecular measurements enhance our understanding of membrane proteins and the genetic diseases caused by their dysfunction? In this episode, we explain how membrane proteins relay environmental information to cells, focusing on channels that gate ions and molecules.

Season 2 Episode 1: “It's in your blood with Drs Vijay Sankaran and John Doench

17 December 2025

How can we use genomic technologies to tackle blood diseases? In this episode, we explain the role of genetic variants in blood disorders and how genomics approaches, such as gene editing can help cure these diseases.

Season 1 Episode 6: “Biocuration: from Evidence to Classification" with Drs Heidi Rehm and Courtney Thaxton

30 June 2025

Who do you ask if you have a question about a gene? In this episode, we dive into the teams and scientists that are building an encyclopedia of knowledge about your genes.

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Latest Seminars

KBTBD4 Cancer Hotspot Mutations Drive Neomorphic Degradation of HDAC1/2 Corepressor Complexes

7 April 2026

Olivia Zhang recently obtained her Ph.D. in Chemistry and Chemical Biology from Harvard University in Dr. Brian Liau’s Lab. Her research focused on understanding chemical and genetic mechanisms to regulate the LSD1-HDAC1/2-CoREST (LHC) repressor complex. In particular, she investigated the mechanism of cancer hotspot mutations in the E3 ligase KBTBD4 in promoting the degradation of CoREST. Using deep mutational scanning and a diverse array of biochemical and cell based assays, her work along with extensive collaborations reveal the mutational landscape...more
Scaled multidimensional assays of variant effect for hypertrophic cardiomyopathy

7 April 2026

Yuta Yamamoto is an Instructor of the Division of Cardiovascular Medicine, Stanford. He completed a postdoc training at the Ashely lab at Stanford. His research focuses on decoding genetic variants associated with hypertrophic cardiomyopathy using scalable functional genomics.

Comprehensive mutational characterization of variants within the calcium-binding STIM1 cEF-hand

3 March 2026

Nisha Kamath obtained her Ph.D. in Pathology/Immunology from Case Western Reserve University under the mentorship of Dr. Kenneth Matreyek. Her thesis project involved using deep mutational scanning and targeted phenotypic assays to understand how variants within the calcium-binding STIM1 cEF-hand domain affect its structure and function. She is currently pursuing a short-term postdoc within the same lab, applying phenotypic assays she developed during her doctoral training to understand the effect of protein variants on genes related to epilepsy.

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