Mutational Scanning

New Mutational Scanning Method Advances Genetic Understanding of Hemophilia B

April 30, 2025 | by BBI Communications

‘Useful for diagnoses, family planning, and to test other relatives at risk’

MSS 2025 Update: BioMarin Sponsorship Aims to Drive Progress in Development of Therapies for Rare Diseases

April 10, 2025 | by BBI Communications

‘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.’

Spotlight on MSS 2025: Lindorff-Larsen to Address Symposium on Interface Between Variant Effects and Interpretation

April 07, 2025 | by BBI VCommunications

Kresten Lindorff-Larsen, one of the speakers at the 2025 Mutational Scanning Symposium, discusses his upcoming presentation and his background.

AVE Alliance Annual Report Chronicles Endeavors to ‘Profoundly Impact Human Health’

February 21, 2025 | by BBI Communications

The Atlas of Variant Effects Alliance has chosen “gratitude” as the theme for its 2024 Annual Report and for good reason.

Q and A with Dr. David Adams on MSS 2025 and Prospects for Completing a Clinical Atlas of Variant Effects

February 20, 2025 | by BBI Communications

Dr. David Adams, founding member of the Atlas of Variant Effects Alliance, will be a featured speaker at the Eighth Annual 2025 Mutational Scanning Symposium, May 21 to 23, in Barcelona

UW Medicine Huddle: Mapping Genetic Variants and Their Ties to Disease

February 13, 2025 | by Matt Fitzsimons, UW Medicine

Accelerating discoveries: UW Medicine and the Brotman Baty Institute lead a worldwide effort; Scientists are on track to map 1,000 genes by 2030; and Patients and families are already seeing benefits.

Registration Opens for 8th Annual Mutational Scanning Symposium

January 24, 2025 | by BBI Communications

Register now for the 8th Annual Mutational Scanning Symposium, May 21st through 23rd in Barcelona: “Mapping and Modeling Variant Effects at Scale.”

White Paper Examines Molecular, Physiological, and Environmental Effects on Genetic Variants

January 06, 2025 | by BBI Communications

There are about 8.2 billion people in the world and each one has their own set of common and rare genetic variants. Moreover, environmental exposures determine each person’s risk of disease and potential prognosis.

MSS 2025 Speakers will Offer Perspectives on AI, Bioengineering, and Other Topics

November 05, 2024 | by BBI Communications

A dozen experts on subjects, ranging from computational biology to bioengineering to AI, have been confirmed for the Eighth Annual Mutational Scanning Symposium, May 21st through 23rd in Barcelona, Spain.

Researchers, Clinicians, Funders Create Roadmap for Clinical Atlas of Variant Effects by 2030

October 21, 2024 | by BBI Communications

‘Tight integration of AI and experiments needed to optimize allocation of resources and deliver high-quality variant effect information’

Lead Organizers Offer Insights into Planning for 8th Annual Mutational Scanning Symposium

October 17, 2024 | by BBI Communications

The 8th annual Mutational Scanning Symposium will be held in Barcelona, Spain, May 21-23, at the Barcelona Biomedical Research Park

Julia Foreman: ‘There is so much potential in the reclassification of variants’

August 19, 2024 | by Sayeh Gorjifard

Even before making strides in human genetic variant interpretation, Dr. Julia Foreman, Ph.D., always enjoyed studying the effects of mutations. “Genetics is fascinating, particularly developmental genetics,” she proclaims.

New Science Podcast Focuses on Genetic Variants and Rare Diseases

June 24, 2024 | by BBI Communications

‘We want to people to understand the magnitude of problem researchers are facing. And develop some level of empathy for those dealing with rare diseases.’ Alex Nguyen, Ph.D.

MSS 2024: Recap and Observations from Sumaiya Iqbal and Doug Fowler

May 31, 2024 | by BBI Communications

BBI's Dr. Doug Fowler and Dr. Sumaiya Iqbal of the Broad Institute reflect on the 2024 Mutational Scanning Symposium and offer suggestions for the 2025 event

Alan Rubin: ‘Unwavering dedication to open science and power of MaveDB’

May 24, 2024 | by Sayeh Gorjifard

His early work and contributions helped launch the Atlas of Variant Effects (AVE) Alliance, where he is now a member of the executive committee and co-chair of the AVE Data Coordination and Dissemination workstream

Q&A with Drs. Heidi Rehm and Vijay Sankaran, Keynote Speakers at the 2024 Mutational Scanning Symposium

April 17, 2024 | by BBI Communications

'Advancing genomic medicine through global collaboration'

Q&A with JT Neal on Planning for the 2024 Mutational Scanning Symposium

March 07, 2024 | by BBI Communications

[Editor’s Note: J.T. Neal, Ph.D., of the Broad Institute of MIT and Harvard, is leading the planning and organization for the 2024 Mutational Scanning Symposium.]

‘Unparalleled Opportunity to Hear from Leaders on New Trends in Computational Science, Genomics, and Precision Medicine’

February 15, 2024 | by BBI Communications

Seventh Annual Mutational Scanning Symposium Set for May 22 – 24 at Broad Institute

Reflecting on a Year of ‘Unprecedented Progress’

January 17, 2024 | by BBI Communications

Highlights from the Atlas of Variant Effects Alliance’s 2023 Annual Report

Irene Gallego Romero Joins Global AVE Alliance

August 22, 2023 | by BBI Communications

“Dr. Gallego Romero is highly accomplished and talented scientist, and I particularly value her perspective on human evolution and genetic diversity.” BBI's Dr. Doug Fowler

Building an atlas of gene variants to understand health and disease

August 16, 2023 | by Alexandra Canet Font, Marketing Manager, Wellcome Genome Campus

Mutational scanning technologies are revolutionising the way we understand human genetic variation

Following Up on MSS 2023: Perspectives from Two Participants

July 28, 2023 | by BBI Communications

The 6th annual Mutational Scanning Symposium was held July 13 and 14 in the UK. Drs. Raghavan Varadarajan, a biophysicist and professor at the Indian Institute of Science, and Yann Ilboudo, a research associate at McGill University, offer their reflections