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Headshot of Investigator Mark Daly.
Headshot of Investigator Mark Daly.

Awardee

Mark Daly, Ph.D.

SFARI Investigator

Affiliations
  • Chief, Analytic and Translational Genetics Unit, Massachusetts General Hospital
  • Associate Professor, Harvard Medical School
  • Co-director, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard
  • Director, Institute for Molecular Medicine Finland, University of Helsinki
Website
atgu.mgh.harvard.edu

Publications

Deleterious coding variation associated with autism is consistent across populations, as exemplified by admixed Latin American populations.

medRxiv, January 6, 2025

Avila M.N., Jung S., Satterstrom F.K., Fu J.M., Levy T., Sloofman L.G., Klei L., Pichardo T., Stevens C.R., Cusick C.M., Ames J.L., Campos G.S., Cerros H., Chaskel R., Costa C.I.S., Cuccaro M.L., Del Pilar Lopez A., Fernandez M., Ferro E., Galeano L., Girardi A.C.D.E.S., Griswold A.J., Hernandez L.C., Lourenço N., Ludena Y., Nuñez D.L., Oyama R., Peña K.P., Pessah I., Schmidt R., Sweeney H.M., Tolentino L., Wang J.Y.T., Albores-Gallo L., Croen L.A., Cruz-Fuentes C.S., Hertz-Picciotto I., A. Kolevzon, Lattig M.C., Mayo L., Passos-Bueno M.R., Pericak-Vance M.A., Siper P.M., Tassone F., Trelles M.P., Autism Sequencing Consortium, M. Talkowski, M. Daly, Mahjani B., De Rubeis S., et al.

Rare coding variation provides insight into the genetic architecture and phenotypic context of autism.

Nat. Genet., September 1, 2022

Fu J.M., Satterstrom F.K., Peng M., Brand H., Collins R.L., Dong S., et al.

The female protective effect against autism spectrum disorder.

Cell Genom., June 8, 2022

Wigdor E.M., Weiner D.J., Grove J., Fu J., Thompson W.K., Satterstrom F.K., et al.

Predicting functional effects of missense variants in voltage-gated sodium and calcium channels.

Sci. Transl. Med., August 11, 2020

Heyne H.O., Baez-Nieto D., Iqbal S., Palmer D.S., Brunklaus A., May P., et al.

Projects

Identification of protein interaction interfaces disrupted in autism through structural analysis of exome-sequencing data

Awarded 2025
Colorful DNA sequencing chromatogram showing overlapping peaks and corresponding DNA base letters (A, T, C, G) on a black background, representing genetic data analysis.

SPARKing a global gene discovery effort in autism: Analysis of single nucleotide variants and indels

Awarded 2018
Colorful DNA sequencing chromatogram showing overlapping peaks and corresponding DNA base letters (A, T, C, G) on a black background, representing genetic data analysis.

Accelerating autism genetics via whole-population ascertainment in Denmark

Awarded 2013
Colorful DNA sequencing chromatogram showing overlapping peaks and corresponding DNA base letters (A, T, C, G) on a black background, representing genetic data analysis.

The role of contactin-associated protein-like 2 (CNTNAP2) and other genes in autism

Awarded 2007

Featuring Mark Daly

SFARI spotlight image.

Announcing the Recipients of the 2025 Data Analysis Awards

Image of mouse cortex

SFARI Fall 2020 Science Meeting Highlights New Developments in Autism Research

Bar graph showing variants per person: ASD (~0.3), ADHD (~0.28), and Control (~0.19). ASD and ADHD levels are similar (labeled NS), both higher than Control. Error bars are shown for each group.

Autism Spectrum Disorder and Attention Deficit Hyperactivity Disorder Have a Similar Profile of Rare Mutations

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SFARI Announces Genomic Analysis for Autism Risk Variants in SPARK Awardees

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Simons Foundation Autism Research Initiative (SFARI)

SFARI is the Simons Foundation’s autism research program, advancing the basic science of autism and related neurodevelopmental disorders through funding, collaboration, and open science.

Learn more
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