Latest Events

8th Annual Mutational Scanning Symposium 2025 8th Annual Mutational Scanning Symposium 2025

21 May 2025

Event jointly organized by : Institute for Bioengineering of Catalunya (IBEC) and Centre for Genomic Regulation (CRG)
7th Annual Mutational Scanning Symposium 2024 7th Annual Mutational Scanning Symposium 2024

22 May 2024

Our 7th Annual Mutational Scanning Symposium will be held at the Broad Institute in Cambridge Massachusetts May 22-24th, 2024

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Latest News

New guidelines aim to improve transparency and trust in genetic prediction tools New guidelines aim to improve transparency and trust in genetic prediction tools

30 April 2025

Researchers from the Institute of Genetics and Cancer have been working with the Atlas of Variant Effects Alliance to provide practical guidelines for releasing new computational tools known as variant effect predictors (VEPs).
MSS 2025 Update: BioMarin Sponsorship Aims to Drive Progress in Development of Therapies for Rare Diseases MSS 2025 Update: BioMarin Sponsorship Aims to Drive Progress in Development of Therapies for Rare Diseases

10 April 2025

‘The science in the field of genetic variants is moving really fast and the Mutational Scanning Symposium offers great opportunities to stay connected with other institutions and colleagues at its forefront.’

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Latest Podcast Episodes

“Deep Thought” with Drs Debora Marks and Joe Marsh “Deep Thought” with Drs Debora Marks and Joe Marsh

23 March 2025

We can predict the weather, but can we predict genetic diseases from your genome?

In this episode we explain the challenges and the promises of variant effect predictors (VEPs)

with experts Dr Debbie Marks and Dr Joe Marsh

“Live from the Mutational Scanning Symposium” “Live from the Mutational Scanning Symposium”

8 November 2024

In this bonus episode, we interview scientists at the 7th Annual Mutational Scanning Symposium which took place May 22-24, 2024 at the Broad Institute. Here we chat about the future of this field, funny lab experiences, and how people got interested in variant interpretation. (We want to thank Dr. Buchser, Dr. Cagiada, Dr. Deyell, Dr. Kinney, Mr. Smith, and everybody else at MSS2024 for their participation.)

Episode 3 “Your genes on drugs: context matter” with Drs Frederick ‘Fritz’ Roth, Iris Cohn & Michelle Axford Episode 3 “Your genes on drugs: context matter” with Drs Frederick ‘Fritz’ Roth, Iris Cohn & Michelle Axford

20 September 2024

How do your genes impact your drug response, and what about your metabolism? In this episode we explain genetic variation impacting drug response or pharmacogenomics and folate requirements in pregnancy. Variant effect maps are an amazing tool for understanding individual response to diseases and drugs, but normally they are made in one environment, how many environments are needed for us to implement individualized medicine?

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Latest Seminars

Phylogeny-Driven Approaches for Variant Effect Prediction Phylogeny-Driven Approaches for Variant Effect Prediction

5 August 2025

Nurdan Kuru is currently a postdoctoral researcher in Siepel Lab at Cold Spring Harbor Laboratory. Previously, she was a postdoctoral researcher from 2021 to 2024 at Adebali Lab at Sabancı University, Turkey. Her talk will discuss her work at Adebali Lab, where she developed phylogeny-aware algorithms for variant effect prediction and coevolution. She holds BSc and MSc degrees in Mathematics and a PhD in Industrial Engineering. Her current research focuses on computational evolution and population genomics, specifically developing a multi-ancestry...more
Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration

5 August 2025

Ferdy is a resident in internal medicine with an interest in endocrinology. He has studied medicine in Rotterdam and has finished his PhD in the Erasmus Medical Center, focusing on understanding pathophysiology and clinical presentation of patients with rare thyroid hormone signalling diseases, particularly MCT8 deficiency, and on developing and evaluating novel therapies for these rare diseases. He is getting enthusiastic about enhancing understanding of complex pathophysiology and applying this to help patients in a bench to bedside translational manner.

Multiplexed in vivo base editing identifies functional gene-variant-context interactions Multiplexed in vivo base editing identifies functional gene-variant-context interactions

2 September 2025

Jonuelle (Jon) Acosta is a postdoctoral fellow at MIT co-mentored by Francisco Sánchez-Rivera and Michael Hemann. He completed his PhD at the University of Pennsylvania in David Feldser's laboratory, where he utilized tractable mouse models of cancer to model the impact of p53 restorative therapies in small cell carcinoma.  As an F31 predoctoral fellow,  he identified novel context-dependent mechanisms of p53-mediated tumor suppression that may be utilized to develop novel strategies to treat this aggressive cancer subtype, and others. During...more

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