Technology Platform

Translating genetic discoveries into cures is rapidly becoming reality

Publications and Presentations

Homology Medicines (HMI™) is dedicated to advancing the scientific and clinical understanding of genetic medicines for rare disorders. View our presentations and publications supporting our platform.

The abstracts included on this page may not reflect the most up-to-date data given the timing of abstract submission and/or presentation as well as data generated from ongoing studies.

November 1, 2022

DNA read count calibration for single molecule, long read sequencing

Soares L, Hanscom T, Selby D, et al.

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October 25, 2022

A Phase 1, Open-Label, Dose-Escalation Study to Evaluate the Safety and Efficacy of HMI-103, a One-Time Gene-Editing Vector in Adult Participants with Classical PKU Due to PAH Deficiency

Sandhu A, Simiele C, Benard L, et al.

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October 25, 2022

Single-Molecule, Modified Base Sequencing to identify frequency and cause of rAAV Vector Breakpoints

Thompson J, Selby D, Hanscom T, et al.

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July 5, 2022

Natural Variations in AAVHSC16 Significantly Reduce Liver Tropism and Maintain Broad Distribution to Periphery and CNS

Smith LJ, Schulman L, Barnes C, et al.

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May 4, 2022

Sustained Expression of C5mAb in Presence of Murine and Human FcRn

Sharma Y, Rubin H, Avila N, et al.

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May 4, 2022

rAAV Vector Breakpoints Determined Using Single-Molecule, Modified Base Sequencing

Selby DE, Hanscom T, Soares L, et al.

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May 4, 2022

Capsid Selection Strategy for the Development of Gene Therapies Based on Structural and Functional Analyses of a Panel of AAVHSCs

Smith LJ, Avila N, Behmoiras L, et al.

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May 4, 2022

Genome-Wide and Directed Integration Assays Identify and Quantify rAAV In Vivo Gene Editing Sites in Mice With Humanized Livers

Thompson JF, Von Stetina J, Prout J, et al.

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May 4, 2022

The Structure of the 501 Residue on AAVHSC16 is Imperative to the Functional Binding to Cell Surface Glycans, which is a Key Step in Successful Transduction

Smith L, Schulman L, Van Lieshout L, et al.

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May 4, 2022

Naturally Occurring Variations at the 501 and 706 Residues on AAVHSC16 Contribute to Reduced Liver Tropism and Slower Serum Clearance

Smith L, Schulman L, Van Lieshout L, et al.

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May 4, 2022

Sustained Correction of a Murine Model of Phenylketonuria and Integration Into the Genome Following a Single Administration of an AAVHSC15 Phenylalanine Hydroxylase Gene Editing Vector

Benard L, Lamppu D, Von Stetina JR, et al.

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March 22, 2022

Patient-Centric Adaptations for pheNIX Clinical Trial Evaluating HMI-102 Gene Therapy in Adults with PKU in the Era of COVID-19

Donahue J, White Y, Sandhu A, et al.

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February 10, 2022

Summary of Nonclinical Data for Gene Therapy Developmental Candidate HMI-203 for Mucopolysaccharidosis Type II (MPS II), or Hunter Syndrome. WORLDSymposium™ 2022

Smith L, Patel K, Seabrook T, et al.

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February 10, 2022

Clinical trial design for HMI-203 investigational gene therapy for Mucopolysaccharidosis (MPS II) informed by cross-correction potential and KOL Input

Gingras J, Haroldson J, Smith L, et al.

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February 10, 2022

Patient and physician perspectives inform clinical trial design for a single intravenous dose of HMI-203, a gene therapy candidate for adults with mucopolysaccharidosis type II

Haroldson J, Witalisz C, Mayfield C, et al.

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February 10, 2022

AAVHSCs and Nervous System-Targeted Gene Therapy for Lysosomal Storage Disorders

Seabrook T, Patel K, Smith L, et al.

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October 20, 2021

Blood-Brain-Barrier Crossing Leads to Long-Term Efficacy in the CNS of HMI-203: Gene Therapy Development Candidate for Mucopolysaccharidosis Type II (MPS II), or Hunter Syndrome

Smith L, Patel K, Gingras J, et al.

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October 19, 2021

Gene Therapy-mAb Platform Targets Complement Protein 5 Using AAVHSCs

Sharma Y, Rubin H, Avila N, et al.

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October 19, 2021

Long-Term Systemic Expression and Cross-Correction Ability of HMI-203, Investigational Gene Therapy Candidate for Mucopolysaccharidosis Type II (MPS II), or Hunter Syndrome

Patel K, Smith L, Gingras J, Tzianabos A, et al.

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October 19, 2021

HMI-103: An Investigational Gene Editing Vector for Phenylketonuria (PKU)

Benard L, Lamppu D, Prasad A, et al.

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October 19, 2021

Neutralizing Antibody Prevalence Toward a Hematopoietic Stem Cell-Derived AAV and Immunoassays for Clinical Trial Enrollment

Klem T, Woodcock S, Smith A, et al.

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October 18, 2021

Patient-Focused Drug Development for a Single Intravenous Dose of HMI-203 Gene Therapy in Adult Mucopolysaccharidosis (MPS) II, or Hunter Syndrome, Patients

Haroldson J, PharmD; Witalisz CJ, MBA; Martin R, MD. et al.

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October 18, 2021

Genome-Wide Integration Assay for rAAV Mediated Homologous Recombination (HR) in Human Hepatocytes Demonstrated Precision of In Vivo Gene Editing Approach

Thompson J, Von Stetina J, Prout J, et al.

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May 1, 2021

AAVHSCs, a Nuclease-Independent Approach for Editing of Post-Mitotic Neurons in Non-human Primate Retina and Human Organotypic Explants

Sarin S, Chen H-M, Seabrook T, et al.

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April 27, 2021

Functional Characterization of AAVHSCs Compared to AAV serotypes: Activation of Cellular Pathways In vitro and In Vivo Transduction Properties

Gingras J, St-Martin T, Gall K, et al.

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April 27, 2021

Investigational Genetic Medicine Approaches for Phenylketonuria (PKU)

Lamppu D, Wright J, Benard L, et al.

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April 27, 2021

Long-Term Expression of HMI-203: Investigational Gene Therapy Candidate for Mucopolysaccharidosis Type II (MPS II), or Hunter Syndrome

Smith L, Patel K, Gingras J, et al.

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April 27, 2021

Transducing the Liver as an Antibody Factory using AAVHSCs

Sharma Y, Rubin H, Avila N, et al.

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April 27, 2021

Wildtype AAV2 Rep Protein Produces Higher Titer AAVHSC Vectors with Improved Packaging Profiles Compared to Clade F Associated Chimeric Rep

van Lieshout L, Golebiowski D, Rubin M,, et al.

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April 27, 2021

Next Generation AAV Drug Products: Enhanced Stability & Clinical Ease for High Titer Preparations

Karpes LB, Peters TJ, Bailey M, et al.

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April 27, 2021

Gene Therapy Candidate for Metachromatic Leukodystrophy (MLD): Summary of Preclinical In Vivo Data Following an Intravenous Delivery of HMI-202

Gingras J, St-Martin T, Gall K, et al.

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April 14, 2021

HMI-203: Gene Therapy Developmental Candidate for Mucopolysaccharidosis Type II (MPS II), or Hunter Syndrome

Patel K, Smith L, Seabrook T, et al.

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April 14, 2021

The pheNIX Trial: First-in-Human Gene Therapy Trial for PKU Due to Phenylalanine Hydroxylase (PAH) Deficiency

Bodamer O, Burton B, Iles J, et al.

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February 11, 2021

HMI-202: Gene Therapy Development Candidate for Metachromatic Leukodystrophy (MLD)

Gingras J, St-Martin T, Gall K, et al.

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February 11, 2021

HMI-203: Investigational Gene Therapy for Mucopolysaccharidosis Type II (MPS II), or Hunter Syndrome

Patel K, Smith L, Gingras J, Tzianabos A, et al.

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November 6, 2020

The pheNIX Trial: the First-In-Human Gene Therapy Trial for PKU due to Phenylalanine Hydroxylase (PAH) Deficiency

Bodamer O.

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October 28, 2020

Investigational gene therapy for treatment of metachromatic leukodystrophy (MLD)

Gingras J, St-Martin T, Gall K, et al.

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May 26, 2020

Molecular characterization of precise in vivo targeted gene integration in human cells using AAVHSC15

Chen H-M, Resendes R, Ghodssi A, et al.

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May 14, 2020

Development and Scalability of Transfection-Based Production and Purification of Novel Clade F Adeno-Associated Viruses Isolated from Human Hematopoietic Stem Cells (AAVHSCs)

Mercaldi M, Stanvick M, Gilmore D, et al.

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May 14, 2020

AAVHSCs Transduction Does Not Significantly Elicit p53-Mediated Apoptosis or Alter Cell Cycle in Human iPSCs and Primary Cells When Compared to Non-Clade F AAV Vectors

Duong KL, Boyd M, Smith S, et al.

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May 13, 2020

Role of Terminal Galactose In Cellular Uptake, Intracellular Trafficking, and Tissue Tropism Using Adeno-Associated Viruses Isolated From Human Stem Cells (AAVHSCs)

Smith S, Barnes C, Behmoiras L, et al.

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May 13, 2020

Gene Therapy for Metachromatic Leukodystrophy (MLD) That Crosses the Blood-Nerve and Blood-Brain Barriers in Mice and Non-Human Primates

Gingras J, St-Martin T, Gall K, et al.

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May 13, 2020

In Vivo Transduction of Murine Hematopoietic Stem Cells After Intravenous Injection of AAVHSC15 AND AAVHSC17

Lang JF, Kivaa M, Smith LJ, et al.

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May 12, 2020

Molecular Characterization of Precise In Vivo Targeted Gene Editing in Human Cells using AAVHSC15, a New AAV Derived from Hematopoietic Stem Cells (AAVHSC)

Chen H-M, Resendes R, Ghodssi A, et al.

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May 12, 2020

Molecular Design and Characterization of Packaging Plasmid Sequences for Improved Production of Novel Clade F AAVHSCs

Van Lieshout L, Adamson Small, L Seidel S, et al.


March 13, 2020

Sustained Correction of a Murine Model of Phenylketonuria Following a Single Intravenous Administration of AAVHSC15-PAH

Ahmed SS, Rubin H, Wang M, et al.

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February 12, 2020

HMI-202: Investigational Gene Therapy for Treatment of Metachromatic Leukodystrophy

Gingras J, St-Martin T, Gall K, et al.

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February 10, 2020

AAVHSC Characterization for Developing Treatments for Human Genetic Diseases of the Nervous System

Seabrook TA, Gingras J, Patel K, et al.

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December 10, 2019

5-year retrospective analysis of patients with phenylketonuria (PKU) and hyperphenylalaninemia treated at two specialized clinics

Levy H, Lamppu D, Anastosoaie V, et al.

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November 26, 2019

Clade F AAVHSCs cross the blood brain barrier and transduce the central nervous system in addition to peripheral tissues following intravenous administration in nonhuman primates

Ellsworth JL, Gingras J, Smith LJ, et al.

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October 25, 2019

Nuclease-free genome editing by AAVHSC vectors leads to in vivo genome correction and amelioration of disease phenotype in a mouse model of phenylketonuria (PKU)

Ellsworth J, Smith L, St. Martin T, et al.

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October 24, 2019

Impact of Full and Empty Particle Concentration on Product Quality and in vivo Efficacy of HMI-102 in a Mouse Model of Phenylketonuria (PKU)

Faulkner E, Adamson-Small L, Ahmed S, et al.

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October 18, 2019

HMI-202, Investigational Gene Therapy for Metachromatic Leukodystrophy (MLD).

Gingras J, St-Martin T, Gall K, et al.

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October 17, 2019

HMI-102, an Investigational Gene Therapy for Phenylketonuria (PKU)

Lamppu D, Ahmed S, Benard L, et al.

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October 17, 2019

A 5-Year Retrospective Study of Individuals with Phenylketonuria (PKU) Treated at Two Specialized Clinics

Zhao J, Lamppu D, Kinch D, et al.

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June 17, 2019

AAVHSC15 Packaging Human Phenylalanine Hydroxylase Results in Sustained In Vivo Correction of Phenylketonuria Following a Single IV Administration in the Murine Model

Ahmed SS, Wang M, Ellsworth JL, et al.

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May 2, 2019

Novel AAVHSCs Demonstrate Efficient Crossing of the Blood-Brain-Barrier and Potential in Gene Therapy for Metachromatic Leukodystrophy (MLD)

Gingras J, St-Martin T, Gall K, et al.

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May 2, 2019

Nuclease-Free and Promoter-Less AAVHSC-Mediated Genome Editing In Vivo Corrects the Disease Phenotype in a Mouse Model of Phenylketonuria

Wright J, Ellsworth JL, St. Martin T, et al.

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April 30, 2019

AAVHSCs Target Multiple Cell Types in the Eye and have Potential to Treat Rare Retinal Diseases

Sarin S, Avila N, Smith L, et al.

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April 30, 2019

A 5-Year Retrospective Study of Individuals with Phenylketonuria (PKU) Treated at Two Specialized Clinics

Lamppu D, Kinch D, Anastasoaie V, et al.

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April 29, 2019

Biodistribution and Tolerability of HMI102, a Novel AAVHSC15 Encoding Human Phenylalanine Hydroxylase, in Cynomolgus Monkeys

Wright TL, Ellsworth JL, Ahmed SS, et al.

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April 29, 2019

Development of a Scalable Platform for GMP Production of High Quality, Novel Clade F rAAV Vectors Following Comparison of HEK293 Mammalian and the SF9-Baculovirus Systems

American Society of Gene & Cell Therapy Annual

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April 4, 2019

Single Intravenous Administration of AAVHSC15 Packaging a Human Phenylalanine Hydroxylase Transgene Sustainably Corrects Phenylketonuria in Mouse Model

Ahmed S, Benard L, Wang M, et al.

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March 6, 2019

CNS Biodistribution of AAVHSCs and their Gene Therapy Application for Targeting Metachromatic Leukodystrophy (MLD)

Seabrook TA, Patel K, St-Martin T, et al.

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February 5, 2019

Single Intravenous Dose of AAVHSC15 Packaging a Human Phenylalanine Hydroxylase Transgene Results in Durable Correction of Phenylketonuria In Vivo

Francone OL, Ahmed SS, Ellsworth JL, et al.

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November 6, 2018

Biodistribution of AAVHSCs in the Central Nervous System of Non-Human Primates

Gringas J, Oliveri K, St-Martin T, et al.

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October 18, 2018

Durable Correction of Phenylketonuria In Vivo Following a Single Intravenous Dose of AAVHSC15 Packaging a Human Phenylalanine Hydroxylase Transgene

Ahmed S, Ellsworth JL, Francone O, et al.

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July 17, 2018

Stem cell-derived clade F AAVs mediate high-efficiency homologous recombination-based genome editing

Smith LJ, Wright J, Clark G, et al.

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July 6, 2018

Sustained Correction of Phenylketonuria by a Single Dose of AAVHSC Packaging a Human Phenylalanine Hydroxylase Transgene

Ellsworth JL, Ahmed S, Francone O, et al.

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June 13, 2018

Nuclease-Free Genome Editing by AAVHSC Vectors Leads to In Vivo Genome Correction and Amelioration of Disease Phenotype in a Mouse Model of Phenylketonuria (PKU)

Wright J, Smith L, Adamson-Small L, et al.

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June 11, 2018

Transduction of Photoreceptor and Pigmented Epithelial Cells Following a Single Subretinal Injection of AAVHSC17 in Minipigs

Ellsworth J, Rubin H, Seymour A, et al.

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June 11, 2018

Widespread Transduction of the Central Nervous System Following Systemic Delivery of AAVHSC7, AAVHSC15 and AAVHSC17 in Non-Human Primates

Smith L, Rubin H, Gringas J, et al.

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May 17, 2018

AAVHSC Nuclease-Free Genome Editing Leads to In Vivo Genome Correction and a Significant Reduction in Disease Phenotype in a Mouse Model of Phenylketonuria

Wright J, Smith L, Adamson-Small L, et al.

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May 17, 2018

Sustained Correction of Phenylketonuria by a Single Dose of AAVHSC Packaging a Human Phenylalanine Hydroxylase Transgene

Ahmed S, Ellsworth JL, Francone O, et al.

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May 16, 2018

Transduction of Photoreceptor and Pigmented Epithelial Cells Following a Single Subretinal Injection of AAVHSC17 in Minipigs

Ellsworth JL, Rubin H, Seymour A.

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February 27, 2018

Low seroprevalence of neutralizing antibodies targeting two Clade F AAV in humans

Ellsworth JL, O'Callaghan M, Rubin H, et al.

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May 13, 2017

AAVHSC vectors mediate highly precise and efficient homologous recombination-based gene editing

Smith LJ, Wright JB, Atallah G

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May 12, 2017

Widespread transduction of the central nervous system following systemic delivery of AAVHSC17 in non-human primates

Ellsworth JL, Smith LJ, Rubin H, et al.

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May 10, 2017

Evaluation of on-target and off-target precision of AAVHSC-mediated genome editing

Wright JB, Dollive S, St. Martin T, et al.

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May 10, 2017

Prevalence of neutralizing antibodies targeting two novel clade F AAV in human sera

Ellsworth JL, Hillard R, Seymour A, et al.

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September 1, 2014

Gene transfer properties and structural modeling of human stem cell-derived AAV

Smith LJ, Ul-Hasan T, Carvaines SK, et al.

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