Mass General Brigham at ASHG 2026

Oct 20–24, 2026 Montréal, Canada ~7.5k attendees Website

Mass General Brigham brings 7 presentations from 6 research groups to ASHG 2026 in Montréal. Its program centres on rare-disease diagnosis and treatment, population-scale genomic data, and clinical applications of genetic findings. The Center for Genomic Medicine presents a therapy that reverses retinal degeneration in mice, Genomes2People studies carrier phenotypes in the BabySeq Project, and Koyama Lab reports cross-ancestry coronary artery disease genetics.

Organization	ASHG 2026 Attendance
Mass General Brigham Boston, Massachusetts	2 Staff Scientists · 2 Postdocs · 1 PI
Center for Genomic Medicinecgm.massgeneral.org Wet + dry lab~46 people Studies human genetic variation, biobank/EHR and transcriptomic data with computational and experimental genomics. Uses findings for disease mechanisms, diagnosis and targeted treatments. 79 papers since 2024 › Genome Sequencing for Diagnosing Rare Diseases New England Journal of Medicine, 2024 Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes Nature, 2024 A harmonized public resource of deeply sequenced diverse human genomes Genome Research, 2024 Source: OpenAlex author A5060291693 Funded by National Human Genome Research Institute (NHGRI) › National Human Genome Research Institute (NHGRI), Mass General Brigham Healthcare Training Program in Precision & Genomic Medicine (T32) · active “supported by the National Human Genome Research Institute (NHGRI).” Source: lab pages 10 platforms and techniques › Analyzes genome sequencing, transcriptomics Techniques statistical genetics, high-throughput genome-wide association studies, transcriptomics, small molecule screening, patient-derived stem cell models, adeno-associated viral vectors, mRNA splicing, clinical phenotyping Source: lab pages Currently hiring › “We are hiring! We are inviting applications for full-time CGM faculty” Source: lab positions page	Talk Wed Oct 21 2:27 pm Part of Advances in Clinical Genomics in the Era of AI, Long-Read Sequencing, Precision Medicine, and Genomic Care Delivery BPN36964 corrects ELP1 splicing defects and reverses retinal neurodegeneration in familial dysautonomia mice even with delayed therapeutic intervention Room 710B/Level 7 Collaborators: Massachusetts General Hospital, Massachusetts Eye and Ear Infirmary +1 more Alternative splicingBrain/nervous systemNeurodevelopmentalRNA Poster Wed Oct 21 2:30 pm ★ Reviewers’ Choice Part of Genetic Therapies and Precision Medicine Poster Wednesday Session BPN36964 corrects ELP1 splicing defects and reverses retinal neurodegeneration in familial dysautonomia mice even with delayed therapeutic intervention Exhibit & Poster Hall · Board 5005W Collaborators: Massachusetts General Hospital, Massachusetts Eye and Ear Infirmary +1 more Alternative splicingBrain/nervous systemNeurodegenerationNeurodevelopmental
Genomes2Peoplegenomes2people.org/about/team Dry lab~20 people Studies whole genome and whole exome sequencing in newborns, military members and healthy adults. Measures medical, behavioral and economic outcomes of genomic medicine. 65 papers since 2024 › Plasma Phosphorylated Tau 217 to Identify Preclinical Alzheimer Disease JAMA Neurology, 2025 Evaluation of the Revised Criteria for Biological and Clinical Staging of Alzheimer Disease JAMA Neurology, 2025 Data-driven consideration of genetic disorders for global genomic newborn screening programs Genetics in Medicine, 2025 Source: OpenAlex author A5101916054 Funded by NIH, NIH +5 more › Sanford Health, Imagenetics METRICS Study · 2019 “The Imagenetics METRICS Study, funded by Sanford Health, was launched in 2019” NIH · active “With more than $40 million in NIH awards” NIH, Common Fund Venture Program · active “Funded by a $27 million award ($14.4M from the National Institutes of Health (NIH) Common Fund Venture Program and $12.6M from GeneDx and Illumina)” +4 more on the lab page Source: lab pages 8 platforms and techniques › Analyzes Whole genome sequencing, Whole exome sequencing Techniques Randomized clinical trials, Return of genomic results, Variant classification, Genomic penetrance, Polygenic risk scores, Genetic counseling Source: lab pages Currently hiring › “Opportunities exist for undergraduate, graduate, and postdoctoral fellows to contribute to and expand high-profile studies” Source: lab positions page	Poster Fri Oct 23 2:30 pm Part of Mendelian Phenotypes Poster Friday Session Genome-wide carrier screening reveals possible carrier phenotypes and manifesting heterozygotes in the general population: Results from the BabySeq Project Exhibit & Poster Hall · Board 1096F Collaborators: Boston Children's Hospital Exome/genome sequencingGenotype-phenotype correlationsNewborn screeningPopulation genetics
Genomes2People Research Programgenomes2people.org ~20 people Studies whole-genome and whole-exome sequencing data from newborns, adults, Veterans and biobanks. Evaluates genomic medicine implementation, health outcomes and return of results. 65 papers since 2024 › Plasma Phosphorylated Tau 217 to Identify Preclinical Alzheimer Disease JAMA Neurology, 2025 Evaluation of the Revised Criteria for Biological and Clinical Staging of Alzheimer Disease JAMA Neurology, 2025 Data-driven consideration of genetic disorders for global genomic newborn screening programs Genetics in Medicine, 2025 Source: OpenAlex author A5101916054 Funded by National Institutes of Health (NIH), GeneDx and Illumina +5 more › National Institutes of Health (NIH), Common Fund Venture Program · active “Funded by a $27 million award ($14.4M from the National Institutes of Health (NIH) Common Fund Venture Program and $12.6M from GeneDx and Illumina)” GeneDx and Illumina, BRIDGES-NBS award · active “Funded by a $27 million award ($14.4M from the National Institutes of Health (NIH) Common Fund Venture Program and $12.6M from GeneDx and Illumina)” National Institutes of Health (NIH), BabySeq Project · active “The second phase of the BabySeq Project, funded again by the NIH” +4 more on the lab page Source: lab pages 9 platforms and techniques › Analyzes whole-genome sequencing, whole-exome sequencing (WES), Galleri, pharmacogenomic (PGx) testing Techniques randomized clinical trials, polygenic risk scoring, genetic counseling, newborn screening, genomic medicine implementation Source: lab pages Currently hiring › “Opportunities exist for undergraduate, graduate, and postdoctoral fellows to contribute to and expand high-profile studies” Source: lab positions page	Poster Thu Oct 22 4:15 pm Part of Genetic Counseling, ELSI, and Education Poster Thursday Session Operationalizing an ELSI framework for the responsible design of ML/AI models in genomics Exhibit & Poster Hall · Board 8013T Collaborators: Ariadne Labs, Broad Institute +1 more Artificial intelligenceEthical, legal, and social implicationsMachine learningGenomics
Koyama Labkoyama-lab.org Dry lab~9 people Analyzes whole-genome sequencing, GWAS, RVAS and biobank health data. Develops polygenic risk scores for cardiometabolic disease and precision prevention. 80 papers since 2024 › Integrative proteomic analyses across common cardiac diseases yield mechanistic insights and enhanced prediction Nature Cardiovascular Research, 2024 Rare coding variant analysis for human diseases across biobanks and ancestries Nature Genetics, 2024 Genome-wide association study reveals mechanisms underlying dilated cardiomyopathy and myocardial resilience Nature Genetics, 2024 Source: OpenAlex author A5010690225 Funded by NIH/NHLBI, NIH/NHLBI +3 more › NIH/NHLBI, Pathway to Independence Award (R00) · 04/2026-Present “NIH/NHLBI Pathway to Independence Award (R00), R00HL169733 / PI” NIH/NHLBI, Pathway to Independence Award (K99) · 09/2023-03/2026 “NIH/NHLBI Pathway to Independence Award (K99), K99HL169733 / PI” The Uehara Memorial Foundation · 04/2023-08/2023 “The Uehara Memorial Foundation / PI” +2 more on the lab page Source: lab pages 10 platforms and techniques › Analyzes Whole-genome sequencing, Exome-wide association study, Genome-wide association studies (GWAS), Phenome-wide GWAS, Quantitative trait GWAS Techniques Rare-variant aggregation studies (RVAS), Polygenic risk scores, Statistical fine-mapping, Whole-genome sequence interpretation, Pathogenic-variant interpretation Source: lab pages No openings posted	Talk Thu Oct 22 8:45 am Part of Genetic Associations and Mechanisms in Cardiovascular Disease Sex-stratified cross-ancestry GWAS of coronary artery disease identifies shared and sex-specific genetic effect Room 710B/Level 7 Collaborators: Gladstone Institutes, Broad Institute +3 more Cardiovascular systemGenome-wide association studyPopulation genetics
O'Donnell-Luria Labodonnell-luria-lab.com Dry lab~7 people Analyzes short- and long-read genome/RNA sequencing and proteomics data. Uses them for rare-disease diagnosis, variant interpretation and novel gene discovery. 1 paper since 2024 › Calibration of in-frame indel variant effect predictors for clinical variant classification bioRxiv (Cold Spring Harbor Laboratory), 2026 Source: OpenAlex author A5133923202 Funded by NIH › NIH, Rare Genomes Project · 2023-2025 “2023-2025: Siwaar Abouhala was a Clinical Research Coordinator working on the Rare Genomes Project (RGP), an NIH-funded” Source: lab pages 12 platforms and techniques › Analyzes short-read genome sequencing, long-read genome sequencing, RNA-sequencing, proteomics, exome sequencing, whole-genome sequencing, long-read nanopore genome assembly Techniques rare variant interpretation, variant classification and gene-disease curation, incomplete penetrance analysis, constraint metrics, population genetics Source: lab pages No openings posted	Talk Fri Oct 23 11:30 am Part of Splicing in Disease Etiology Characterization of novel isoforms from long-read trio RNA sequencing of whole blood in rare disease Room 710A/Level 7 Collaborators: Broad Institute, Boston Children's Hospital RNA-seqLong-read sequencingSequencing technologyMulti-omics
Samocha Labsamochalab.org Dry lab~6 people Analyzes exome sequencing, gnomAD and UK Biobank data to interpret rare genetic variation. Develops statistical methods for disease association and variant interpretation. 27 papers since 2024 › Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes Nature, 2024 Examining the role of common variants in rare neurodevelopmental conditions Nature, 2024 Genetic constraint at single amino acid resolution in protein domains improves missense variant prioritisation and gene discovery Genome Medicine, 2024 Source: OpenAlex author A5036423566 8 platforms and techniques › Analyzes Exome sequencing, Illumina amplicon sequencing Techniques De novo mutation modeling, Mutational constraint scoring, Rare-variant disease association, Variant interpretation using gene-, region- and variant-level evidence, Compound-heterozygosity inference, Genomic dataset quality control Source: lab pages Currently hiring › “We are open to inquiries about postdoctoral fellows.” Source: lab positions page No funding stated	Poster Fri Oct 23 2:30 pm Part of Genetic, Genomic, and Epigenomic Resources and Databases Poster Friday Session Identifying variant co-occurrence phasing in 730,947 exomes to decipher pathogenicity of compound heterozygous variants Exhibit & Poster Hall · Board 4033F Collaborators: Broad Institute Clinical geneticsDatabasesExome/genome sequencingLarge-scale biobanks

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