World's Best Scientists 2026 revealed!

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Genetics

D-Index
119
Citations
40536
World Ranking
393
National Ranking
201

Medicine

D-Index
124
Citations
45626
World Ranking
3250
National Ranking
1792

Overview

Samuel G. Jacobson was affiliated with the University of Pennsylvania in the United States. Their research focused primarily on the fields of Biochemistry, Genetics and Molecular Biology, as well as Medicine. Within these broad areas, their major subfields of study included Molecular Biology, Ophthalmology, Genetics, Cellular and Molecular Neuroscience, and Radiology, Nuclear Medicine and Imaging.

The scientist's work concentrated on several key topics related to vision science and genetic disorders. These included:

  • Retinal Development and Disorders
  • Retinal Diseases and Treatments
  • Photoreceptor and optogenetics research
  • Ocular Disorders and Treatments
  • Genetic and Kidney Cyst Diseases
  • Glaucoma and retinal disorders
  • Retinal and Optic Conditions

Jacobson contributed to a variety of journals and scientific venues, with multiple publications in:

  • iScience
  • Translational Vision Science & Technology
  • Nature Medicine
  • Human Gene Therapy
  • Molecular Therapy

Their recent published papers include:

  • Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10: a phase 1b/2 trial, 2022, Nature Medicine
  • Durable vision improvement after a single treatment with antisense oligonucleotide sepofarsen: a case report, 2021, Nature Medicine
  • Full-field stimulus testing: Role in the clinic and as an outcome measure in clinical trials of severe childhood retinal disease, 2021, Progress in Retinal and Eye Research
  • Safety and improved efficacy signals following gene therapy in childhood blindness caused by GUCY2D mutations, 2021, iScience
  • Toxicity and Efficacy Evaluation of an Adeno-Associated Virus Vector Expressing Codon-Optimized RPGR Delivered by Subretinal Injection in a Canine Model of X-linked Retinitis Pigmentosa, 2020, Human Gene Therapy

Throughout their career, Jacobson collaborated with researchers who appeared frequently as co-authors in their publications. Notable collaborators included:

  • Artur V. Cideciyan
  • Alejandro J. Román
  • Alexander Sumaroka
  • Małgorzata Świder
  • Alexandra V. Garafalo

Best Publications

  • Gene therapy restores vision in a canine model of childhood blindness.

    Gregory M. Acland;Gustavo D. Aguirre;Jharna Ray;Qi Zhang

  • Treatment of Leber Congenital Amaurosis Due to RPE65 Mutations by Ocular Subretinal Injection of Adeno-Associated Virus Gene Vector: Short-Term Results of a Phase I Trial

    William W. Hauswirth;Tomas S. Aleman;Shalesh Kaushal;Artur V. Cideciyan

  • Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics

    Artur V. Cideciyan;Tomas S. Aleman;Sanford L. Boye;Sharon B. Schwartz

  • Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa.

    Andreas Gal;Yun Li;Debra A. Thompson;Jessica Weir

  • Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years

    Samuel G. Jacobson;Artur V. Cideciyan;Ramakrishna Ratnakaram;Elise Heon

  • Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor

    Carol L. Freund;Cheryl Y. Gregory-Evans;Takahisa Furukawa;Myrto Papaioannou

  • Long-Term Restoration of Rod and Cone Vision by Single Dose rAAV-Mediated Gene Transfer to the Retina in a Canine Model of Childhood Blindness

    Gregory M. Acland;Gustavo D. Aguirre;Jean Bennett;Tomas S. Aleman

  • Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate

    Neena B. Haider;Samuel G. Jacobson;Artur V. Cideciyan;Ruth Swiderski

  • Rhodopsin mutations in autosomal dominant retinitis pigmentosa.

    Ching Hwa Sung;Carol M. Davenport;Jill C. Hennessey;Irene H. Maumenee

  • Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement

    Artur V. Cideciyan;Samuel G. Jacobson;William A. Beltran;Alexander Sumaroka

  • Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.

    Kirk Mykytyn;Darryl Y. Nishimura;Charles C. Searby;Mythreyi Shastri

  • Human RPE65 Gene Therapy for Leber Congenital Amaurosis: Persistence of Early Visual Improvements and Safety at 1 Year

    Artur V. Cideciyan;William W. Hauswirth;Tomas S. Aleman;Shalesh Kaushal

  • Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel.

    Susanne Kohl;Tim Marx;Ian Giddings;Herbert Jägle

  • Improvement and decline in vision with gene therapy in childhood blindness.

    Samuel G. Jacobson;Artur V. Cideciyan;Alejandro J. Roman;Alexander Sumaroka

  • Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness.

    N.Torben Bech-Hansen;Margaret J. Naylor;Tracy A. Maybaum;Rebecca L. Sparkes

  • CNGA3 Mutations in Hereditary Cone Photoreceptor Disorders

    Bernd Wissinger;Daphne Gamer;Herbert Jägle;Roberto Giorda

  • De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis.

    C. L. Freund;Q.-L. Wang;Shiming Chen;B. L. Muskat

  • Genetically engineered large animal model for studying cone photoreceptor survival and degeneration in retinitis pigmentosa

    Petters Rm;Alexander Ca;Wells Kd;Collins Eb

  • Psychophysical Evidence for Rod Vulnerability in Age-Related Macular Degeneration

    Cynthia Owsley;Gregory R. Jackson;Artur V. Cideciyan;Yijun Huang

  • Mutations in the Cone-Rod Homeobox Gene Are Associated with the Cone-Rod Dystrophy Photoreceptor Degeneration

    Prabodha K. Swain;Shiming Chen;Qing Liang Wang;Louisa M. Affatigato

Frequent Co-Authors

Artur V. Cideciyan
Artur V. Cideciyan University of Pennsylvania
Tomas S. Aleman
Tomas S. Aleman University of Pennsylvania
Edwin M. Stone
Edwin M. Stone University of Iowa
William W. Hauswirth
William W. Hauswirth University of Florida
Gustavo D. Aguirre
Gustavo D. Aguirre University of Pennsylvania
Anand Swaroop
Anand Swaroop National Institutes of Health
Val C. Sheffield
Val C. Sheffield University of Iowa
Elise Héon
Elise Héon University of Toronto
Gerald A. Fishman
Gerald A. Fishman University of Illinois at Chicago
Jean Bennett
Jean Bennett University of Pennsylvania

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