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ScholarsBetaWeill Cornell Medicine

Overview

My medical and scientific career began with, and continues to involve, investigations concerning the biology of the human lung, with a focus over the past decade on health and disease of the airway epithelium and lower respiratory tract. Over 40 years ago, I collaborated with Herb Reynolds and utilized bronchoalveolar lavage to study inflammation on the epithelial surface of the lower respiratory tract.

This research opened the door to a major series of studies that helped to define the pathogenesis and therapy of fibrotic lung diseases. Following that breakthrough, our laboratory helped to define the pathogenesis of Alpha-1 Antitrypsin (AAT) deficiency and - most crucially - developed AAT augmentation therapy, the FDA-approved therapy that has been used since 1988 to treat thousands of AAT deficiency patients worldwide.

Highlights

  1. 1
    American journal of respiratory and critical care medicine · 2020
    HZHaijun ZhangMRMahboubeh Rahmati RostamiPLPhilip L. LeopoldJMJason Mezey+1 more →RGRonald G Crystal
    PMID: 32432483PMCID: PMC7365377DOISenior author197 citations
  2. 2
    Science translational medicine · 2020
    DSDolan SondhiSMStephen M. KaminskyNRNeil R. HackettOPOdelya Pagovich+11 more →RGRonald G Crystal
    PMID: 33268510PMCID: PMC8056991DOISenior author71 citations
  3. 3
    Human gene therapy · 2020
    DJDouglas J BallonEKEdward K FungLALinda A HeierDSDolan Sondhi+1 more →RGRonald G Crystal
    PMID: 33233962PMCID: PMC7769048DOISenior author36 citations

Publications

940 publications

Funding

99 grantsView NIH portfolio on RePORTER ↗

Active

21 grants
  • PI
    MSA between Genetic Cures for Kids Inc and Weill Cornell Medicine
    Genetic Cures for Kids Inc · 2024–2030Contract
    SA 234382-01
  • MPI
    MSA with University of Sheffield and Weill Cornell
    University of Sheffield · 2019–2030Contract
    SA 202209-02
  • PI
    MSA between Weill Cornell and Bionic Sight
    Bionic Sight · 2022–2030Contract
    SA 226146-03
  • PI
    Gene Therapy for Alpha 1-Antitrypsin Deficiency
    National Heart, Lung, and Blood Institute · 2024–2028
    R33HL169190-03
  • PI
    Gene Therapy for APOE4 Homozygous Alzheimer's Disease
    National Institute on Aging · 2026–2028
    UG3AG098024-01
  • KP
    Treatment of APOE4-associated Cognitive Decline in Parkinson's Disease by an Adeno-associated Virus Coding for the Combined APOE2 and APOE-Christchurch Variant
    Michael J. Fox Foundation for Parkinson's Research · 2025–2027
    MJFF 251995-01
  • PI
    Prime Editing of CNS APOE4 to APOE2 or APOE3Christchurch to Suppress Alzheimer's Disease APOE4-associated Amyloid and Tau Pathology
    National Institute on Aging · 2026–2027
    R56AG095450-01A1
  • PI
    Phase IA/IB Study of AAVrh.10hFXN Therapy to Treat the Cardiomyopathy of Friedreich's Ataxia
    National Heart, Lung, and Blood Institute · 2020–2027
    R33HL151355-04
  • PI
    Gene Therapy to Treat Ethanol-induced Osteoporosis Associated with Aldehyde Dehydrogenase 2 Deficiency in Post-menopausal East Asian Women
    NIAAA · 2020–2027 · via NIH RePORTER
    R42AA028465-03
  • PI
    MSA between Forge Biologics and Weill Cornell
    Forge Biologics · 2022–2027Contract
    SA 225750-01
  • PI
    Amendment MSA between WCMC and Bionic
    Bionic Sight · 2026–2027Contract
    SA 262133-01
  • MPI
    Ancillary SOURCE Study: Characterization of Small Airway Basal Cell Biology in Early COPD
    National Heart, Lung, and Blood Institute · 2023–2027
    R01HL166983-04
  • PI
    MSA between UMASS and Weill Cornell University
    University of Massachusetts · 2022–2027Contract
    SA 223745-01
  • Co-I
    Distinct and Overlapping Pathways of Fibrosis and Emphysema in Cigarette Smokers
    National Heart, Lung, and Blood Institute · 2021–2027
    P01HL114501-06A1
  • PI
    MSA between ENYX Therapeutics LLC and Weill Cornell
    ENYX Therapeutics, LLC · 2022–2027Contract
    SA 224519-01
  • PI
    Lexeo Biopharma Agreement
    LEXEO Therapeutics, Inc. · 2025–2027BioPharma Alliance
    BP 251293-03
  • KP
    Tranexamic Acid: Is It As Safe As We Think?
    American Society for Aesthetic Plastic Surgery · 2024–2026
    No publications yet
    ASAPS 245963-01
  • MPI
    MSA between Weill Cornell and FormBio
    Form Bio INC · 2025–2026Contract
    SA 251940-01
  • KP
    New PET/CT System for Human and Non-human Primate Imaging
    Office of the Director, NIH · 2023–2026
    S10OD034271-01
  • PI
    Gene Therapy-mediated Angiogenesis to Enhance Survival of Transplanted Fat
    NHLBI · 2024–2026 · via NIH RePORTER
    R41HL170928-01A1
  • PI
    Safety of AAV-mediated C1 Esterase Inhibitor Gene Therapy for Hereditary Angioedema
    NIAID · 2024–2025 · via NIH RePORTER
    R41AI181097-01
Completed grants (78)
  • Sub-PI
    Increased Dorsal Skin Flap Survival with Ad5VEGF(3i)
    NYSTAR · 2024–2025 · via Cornell University - Ithaca
    CU 243667-01
  • MPI
    Rapid Noninvasive Whole-body Imaging of AAV Gene Transfer Vectors
    National Institute of Biomedical Imaging and Bioengineering · 2019–2025
    R01EB027918-03
  • PI
    MSA between Weill Cornell and LEXEO Therapeutics LLC
    LEXEO Therapeutics, Inc. · 2021–2025Contract
    SA 212795-01
  • PI
    MSA between Weill Cornell and LEXEO Therapeutics LLC
    LEXEO Therapeutics, Inc. · 2021–2025Contract
    SA 212795-01
  • PI
    Manufacturing Services Agreement between PTC and WCM
    PTC Therapeutics · 2019–2024Contract
    SA 201427-01
  • PI
    Angiogenesis Gene Therapy to Enhance Survival of Transplanted Fat
    Daedalus Fund for Innovation (Weill Cornell) · 2023–2024BioPharma Alliance
    BP 233474-01
  • Co-I
    Understanding the Origins of Early COPD
    National Heart, Lung, and Blood Institute · 2020–2024
    R01HL144718-01A1
  • PI
    Anti-eosinophil Gene Therapy for Eosinophilic Esophagitis
    NIAID · 2022–2024 · via NIH RePORTER
    R41AI165000-01A1
  • MPI
    MSA with University of Pittsburgh and Cornell
    University of Pittsburgh · 2020–2024Contract
    SA 204534-01
  • PI
    Lexeo Biopharma Agreement
    LEXEO Therapeutics, Inc. · 2022–2024BioPharma Alliance
    BP 213795-02
  • PI
    Clinical Assessment of Anti-cocaine Vaccine dAdGNE in Cocaine Addicts
    National Institute on Drug Abuse · 2019–2024
    U01DA048524-02
  • PI
    Xylocor Master Services Agreement for AdVEGF-All6A+
    XyloCor · 2019–2023Contract
    SA 191897-01
  • Sub-PI
    Precision Pharmacogenomics in Qatar
    Qatar National Research Fund · 2020–2023 · via Weill Cornell Medical College/Qatar
    PPM3-0314-190024
  • KP
    Major Cyclotron Upgrades and Refurbishment
    Office of the Director, NIH · 2021–2023
    S10OD030447-01
  • KP
    AAV-Based Gene Therapy for the Long-Term Treatment of CLN2-Associated Retinal Degeneration and Prevention of Blindness in CLN2 Patients
    Daedalus Fund for Innovation (Weill Cornell) · 2021–2023BioPharma Alliance
    BP 214968-01
  • PI
    Phase I Study of an AAVrh.10-Mediated Apolipoprotein E2 Gene Delivery to the CNS for the Treatment of Alzheimer's Disease in E4 Homozygotes
    Alzheimer's Drug Discovery Foundation · 2018–2023
    ADDF 171089-03
  • PI
    MSA Amendment No.2 between Lexeo Therapeutics and Weill Cornell
    LEXEO Therapeutics, Inc. · 2022–2022Contract
    LEXEO-01
  • KP
    Second Generation Gene Therapy for APOE4 Homozygous Individuals at High Risk for Alzheimer's Disease
    National Institute on Aging · 2021–2022
    R03AG070738-01
  • KP
    Comparison of Brain Biodistribution of Two CDKL5 Gene Therapy Vector Leads
    Orphan Disease Center at University of Pennsylvania · 2021–2022
    No publications yet
    ODCUP 214052-01
  • Co-I
    Precision Pharmacogenomics in Qatar
    Qatar National Research Fund · 2020–2022
    PPM 03-0314-190024
  • PI
    Oxidation-resistant Anti-protease Therapy
    NHLBI · 2018–2022 · via NIH RePORTER
    R42HL140670-03
  • PI
    CNS Gene Therapy for CLN2 Disease Using Parallel Multiple Routes of Administration
    NINDS · 2020–2022 · via NIH RePORTER
    R41NS117265-01
  • PI
    Gene Therapy to Treat Ethanol-induced Osteoporosis Associated with Aldehyde Dehydrogenase 2 Deficiency
    NIAAA · 2020–2022 · via NIH RePORTER
    R41AA028465-01
  • PI
    Lexeo Biopharma Agreement
    LEXEO Therapeutics, Inc. · 2021–2022BioPharma Alliance
    BP 213795-01
  • PI
    Vaccine to Treat Fentanyl Addiction and Overdose"
    Cornell University · 2021–2021
    CUI 211771-01
  • Co-I
    Metabolic Dysfunction Regulates Mitophagy-Dependent Necroptosis in COPD
    National Heart, Lung, and Blood Institute · 2017–2021
    R01HL132198-02
  • MPI
    Corneal Confocal Microscopy Quantitative Imaging of Corneal Nerves as a Biomarker of Neurologic Disease in Friedreich's Ataxia
    Friedreich's Ataxia Research Alliance · 2019–2021
    FARA 194201-01
  • PI
    Gene Therapy for Cardiac Manifestations of Friedreich's Ataxia
    Friedreich's Ataxia Research Alliance · 2019–2021
    FARA 194278-01
  • PI
    In Vivo Biomarker that Identifies Waterpipe Smoking-Related Lung Health
    National Heart, Lung, and Blood Institute · 2016–2021
    R01HL134163-03
  • PI
    Gene Therapy for Chronic Traumatic Encephalopathy
    Daedalus Fund for Innovation (Weill Cornell) · 2019–2021BioPharma Alliance
    DFI 200106-01
  • PI
    Pulmonary Genetic Medicine Training Program
    National Heart, Lung, and Blood Institute · 2015–2021Training
    T32HL094284-10
  • PI
    Integrative-omics Network Model of the Disordered COPD Small Airway Epithelium
    National Heart, Lung, and Blood Institute · 2014–2021
    R01HL118541-04
  • PI
    HIV Reprogrammed Airway Basal Cells Acquire a “Tissue Destructive” Phenotype
    National Heart, Lung, and Blood Institute · 2016–2021
    R01HL134549-04
  • PI
    Vector Production - Oxidation-resistant Anti-protease Therapy
    LEXEO Therapeutics, Inc. · 2018–2021Contract
    SRA 182697-03
  • PI
    Gene Therapy to Protect the Lung from Oxidant Stress
    NHLBI · 2019–2020 · via NIH RePORTER
    R41HL145871-01A1
  • PI
    Assessment and Gene Repair of Human CF Airway Basal Stem/Progenitor Cells
    Cystic Fibrosis Foundation · 2016–2020
    CRYSTAL15XX0EWOF
  • KP
    Design and Implementation of the First Qatari Population-Centric High-Throughput Custom-Genotyping Microarray, With an Accompanying Private Qatari Genome Browser
    Qatar National Research Fund · 2016–2020 · via Weill Cornell Medical College/Qatar
    NPRP8-1913-3-396
  • PI
    MOU for Martina Bradic
    Weill Cornell Medical College/Qatar · 2019–2020Contract
    SA 194768-01
  • PI
    Gene Therapy to Prevent Esophageal Cancer Associated with Aldehyde Dehydrogenase Deficiency
    NIAAA · 2019–2020 · via NIH RePORTER
    R41AA027739-01
  • PI
    Schedule D
    Annapurna Therapeutics · 2015–2019Contract
    AT SA
  • PI
    BI- IPF Therapy
    Boehringer Ingelheim Pharmaceuticals, Inc. (USA) · 2017–2019Contract
    BP 182046-01
  • PI
    MOU for Martina Bradic
    Weill Cornell Medical College/Qatar · 2018–2019Contract
    SA 190892-01
  • PI
    Amendment 1 to Crystal Boehringer Ingleheim Service Agreement
    Boehringer Ingelheim Pharmaceuticals, Inc. (USA) · 2018–2019Contract
    SA 190353-01
  • PI
    HIV+ Alveolar Macrophage Oxidant-Mediated Apoptosis of Pulmonary Endothelium
    National Heart, Lung, and Blood Institute · 2013–2019
    U01HL121828-05
  • Sub-PI
    Endothelial Microparticles as a Biomarker for Diagnosis and Prognosis in Early Sepsis
    Qatar National Research Fund · 2013–2019 · via Hamad Medical Corporation
    NPRP 6-1348-3-321
  • Co-I
    Parametric Response Mapping in COPD
    National Heart, Lung, and Blood Institute · 2017–2019 · via The Regents of the University of Michigan
    R01HL122438-04S1
  • PI
    Biology of the Oral Epithelium of E-Cigarette Smokers
    National Institute of Dental and Craniofacial Research · 2016–2019
    R56DE026027-03
  • PI
    HIV-Related Accelerated Aging of the Airway Epithelium
    National Heart, Lung, and Blood Institute · 2013–2019
    R01HL118857-05
  • PI
    Production of GMP grade adeno-associated viral vector serotype 5 vector-UPENN-Beltran
    University of Pennsylvania · 2018–2019Contract
    SA 183632-01
  • PI
    A Human Embryonic Stem Cell-based Platform for Directed Evolution of Viral Tropism to Generate Cell-type Specific Vectors for Gene Therapy
    Daedalus Fund for Innovation (Weill Cornell) · 2017–2018
    DFI 180062-01
  • KP
    Identification and Characterization of Bone-Related Genetic Variants in Families
    Qatar National Research Fund · 2015–2018 · via Hamad Medical Corporation
    NPRP 7-1301-3-336
  • KP
    Reduction of Peanut Reactivity and Immune Modulation With Anti-IgE Therapy: A Gene Therapy Approach
    Parker B. Francis Foundation · 2015–2018Fellowship
    PBF 170604-01
  • PI
    Disrupted Adenovirus Serotype 5-Based Anti-Cocaine Vaccine
    National Institute on Drug Abuse · 2012–2018
    U01DA033835-03
  • PI
    COPD Metabolome, Smoking Oxidants and Aberrant Ciliated Cell Function
    NHLBI · 2012–2018 · via NIH RePORTER
    P20HL113443-05
  • PI
    Pulmonary Genetic Medicine Training Program-Administrative Supplement
    National Heart, Lung, and Blood Institute · 2016–2017Training
    No publications yet
    R03HL140406-01
  • PI
    Second-Generation Gene Transfer Vector-Based Anti-Cocaine Vaccines
    National Institute on Drug Abuse · 2013–2017
    R01DA032702-03
  • PI
    Management Project - Gene Therapy for Metachromatic Leukodystrophy
    NINDS · 2011–2016 · via NIH RePORTER
    U01NS066920-03
  • KP
    Subpopulation and Intermediate Outcome Measure in COPD Study SPIROMICS: Clinical Center
    National Heart, Lung, and Blood Institute · 2009–2016
    HHSN268200900017C EW
  • PI
    Gene Therapy for Batten Disease Using AAVrh.10 Expressing Human CLN2 cDNA
    National Institute of Neurological Disorders and Stroke · 2010–2016
    R01NS061848-04EWO
  • PI
    Overlapping Airway Basal Cell Transcriptome Reprogramming in COPD and Lung Cancer
    National Heart, Lung, and Blood Institute · 2011–2016
    R01HL107882-04 EW
  • MPI
    Genetically-delivered Bevacizumab for Treatment of Wet Age-Related Macular Degene
    NEI · 2013–2015 · via NIH RePORTER
    R43EY023108-01
  • KP
    LDN: Assessment of Neurological Deterioration in Subjects with LINCL
    National Institute of Neurological Disorders and Stroke · 2009–2014 · via University of Minnesota
    U54NS065768-03
  • MPI
    Adenovirus-Based Nanoparticle Vaccines
    National Institute on Drug Abuse · 2009–2014
    R01DA025305-03
  • MPI
    Administration
    NHLBI · 2006–2011 · via NIH RePORTER
    P50HL084936-05
  • PI
    Adenovirus-Based Anti-Cocaine Vaccine
    National Institute on Drug Abuse · 2009–2011
    RC2DA028847-02 EW
  • PI
    Gene Therapy for Batten Disease
    NINDS · 2005–2010 · via NIH RePORTER
    U01NS047458-05
  • PI
    Gene Therapy for Cystic Fibrosis
    NHLBI · 1993–2009 · via NIH RePORTER
    P01HL051746-15
  • MPI
    Vaccine Platforms
    NIAID · 2008–2009 · via NIH RePORTER
    U54AI057158-05S1
  • MPI
    Weill Cornell Program of Excellence in Gene Therapy
    NHLBI · 2000–2008 · via NIH RePORTER
    U01HL066952-06
  • PI
    Candidate Genes for Susceptibility to Bronchitis
    NHLBI · 2004–2008 · via NIH RePORTER
    R01HL074326-04
  • MPI
    Anti-Y. pestis Vaccination and Passive Protection
    NIAID · 2003–2007 · via NIH RePORTER
    R01AI055844-01
  • MPI
    GENE TRANSFER VECTOR HUMAN CLN2 CDNA BRAIN OF CHILDREN LINCL
    NCRR · 1997–2007 · via NIH RePORTER
    M01RR000047-47
  • MPI
    Manipulation of VEGF splicing in angiogenic gene therapy
    NHLBI · 1997–2007 · via NIH RePORTER
    P01HL059312-10
  • PI
    PEGT Coordinating and Data Core at Weill Cornell
    NHLBI · 2000–2005 · via NIH RePORTER
    U01HL067738-01S1
  • MPI
    SHH INDUCTION OF POST-NATAL HAIR FOLLICLE/HAIR GROWTH
    NIAMS · 2000–2005 · via NIH RePORTER
    R01AR046282-03
  • MPI
    REGIONAL INDUCTION OF ANGIOGENESIS BY IN VIVO GENE TRANSFER
    NHLBI · 1997–2003 · via NIH RePORTER
    P50HL056987-05
  • MPI
    GENE TRANSFER TO ALVEOLAR MACROPHAGES
    NHLBI · 1997–2002 · via NIH RePORTER
    P50HL059312-05
  • PI
    REGIONAL ANGIOGENESIS INDUCED BY IN VIVO GENE THERAPY
    NHLBI · 1998–2002 · via NIH RePORTER
    R01HL057318-04

Honors & distinctions

3 honors
  • Fellow · National Academy of Inventors · 2021
  • Member · American Society for Clinical Investigation · 1978
  • Member · Association of American Physicians

Clinical research

3 studies

Active

3 studies
  • PI
    Gene Therapy for Alpha 1- Antitrypsin Deficiency
    PHASE1 · Weill Medical College of Cornell University · OPEN TO ACCRUAL (as of 2025)
    Alpha 1-Antitrypsin Deficiency
    NCT06996756
  • PI
    Phase IA and IB Study of AAVrh.10hFXN Gene Therapy for the Cardiomyopathy of Friedreich's Ataxia
    PHASE1 · Weill Medical College of Cornell University · OPEN TO ACCRUAL (as of 2022)
    Friedreich Ataxia; Cardiomyopathies; Cardiac Hypertrophy; Myocardial Fibrosis
    NCT05302271
  • PI
    Characterization of the Cardiac Phenotype of Friedreich's Ataxia (FRDA)
    Weill Medical College of Cornell University · OPEN TO ACCRUAL (as of 2019)
    Friedreich's Ataxia
    NCT02316314

Available technologies

12 technologiesView full WCM portfolio ↗
Show 7 more technologies

News mentions

5 mentionsView all WCM news ↗

Mentoring

21 menteesAll publications with mentees →
1 MD student · 1 PhD student · 19 Postdocs

External relationships

Leadership Roles

ENYX Therapeutics LLC

Ownership

Adverum Biotechnologies · ENYX Therapeutics LLC · Jannu Therapeutics · LEXEO Therapeutics, Inc. · REGENX Bio, Inc. · XyloCor Therapeutics

Professional Services

Passage Bio, Inc.

Proprietary Interest

Center for Technology Licensing at Cornell University · LEXEO Therapeutics, Inc. · XyloCor Therapeutics

Other

4D Molecular Therapeutics, Inc. · AlphaSights, Inc · Atheneum Partners · ClearView Healthcare Partners · Coleman Research Group · EcoR1 Capital LLC · Gerson Lehrman Group (GLG) · GlaxoSmithKline · Guidepoint Global LLC · LEXEO Therapeutics, Inc. · MEDACorp · XyloCor Therapeutics