Mark Pennesi, M.D., Ph.D.

  • Professor of Ophthalmology, School of Medicine
  • Casey Eye Institute, School of Medicine

Biography

Dr. Pennesi was born in Mount Kisco, New York, and moved to Dallas, Texas at a young age. For college, he moved to the east coast and attended the University of Pennsylvania for his undergraduate studies. There he graduated summa cum laude with a BS in biomedical engineering and was awarded the Herman P. Schwann award in bioengineering for exemplary scholarship.

Dr. Pennesi's interest in degenerative retinal disorders began shortly after his first year in college, when he spent a summer working at the Retina Foundation of the Southwest. He worked under the supervision of Dr. David Birch and saw patients with retinal degenerations such as retinitis pigmentosa as well as studying animal models of this disease.

After college, Dr. Pennesi completed a combined M.D./Ph.D. at Baylor College of Medicine in Houston, Texas. He performed his graduate Ph.D. work in the Department of Neuroscience in the lab of Dr. Samuel Wu. His thesis work focused on identifying new animal models of retinal degeneration. He received numerous awards while in graduate school, including the John J. Trentin Award for earning the highest GPA in his class and the BRASS scholarship for playing an active role in community service.

For his residency training, Dr. Pennesi spent his internship year in San Diego at Scripps Mercy Hospital, followed by his ophthalmology residency at the University of California, San Francisco. During residency he was awarded the Hogan/Garcia award for the best resident research project. After residency he completed an ophthalmic genetics fellowship under the tutelage of Dr. Richard Weleber before joining the Casey Eye Institute faculty.

Both Research to Prevent Blindness and the Foundation Fighting Blindness have recognized Dr. Pennesi with career development awards to support his ambition to conduct transitional research that will bring treatments for diseases such as retinitis pigmentosa from the laboratory to the clinic. Additionally, he is the recipient of the 2011 ARVO/Alcon Early Clinician Scientist, the Alcon Young investigator Award in 2014, and the Casey Eye Institute Resident teach award. His research focuses on developing novel treatments for inherited retinal diseases. He is currently exploring the potential of a new class of drugs to up regulate protective growth factors in the retina.

Education and training

  • Degrees

    • B.S., 1997, University of Pennsylvania
    • Ph.D., 2003, Baylor College of Medicine
    • M.D., 2004, Baylor College of Medicine

  • Residency

    • Transitional year, Scripps Mercy Hospital, San Diego, California, 2005

  • Fellowship

    • Ophthalmic genetics fellowship, Casey Eye Institute, Oregon Health & Science University, 2009

  • Certifications

    • American Board of Ophthalmology, 2010

Areas of interest

  • Retinal Dystrophies
  • Congenital/Genetic Disease

Publications

Elsevier pure profile

Publications

  • Phosphoribosyl pyrophosphate synthetase 1 (PRPS1) associated retinal degeneration

    Ophthalmic Genetics
    1. Ogul E. Uner
    2. Radwa Elsharawi
    3. Margaret Reynolds
    4. Giacomo M. Bacci
    5. Sara Bargiacchi
    6. David G. Birch
    7. Fred K. Chen
    8. Nieraj Jain
    9. Rachael C. Heath Jeffery
    10. Tina M. Lamey
    11. Debarshi Mustafi
    12. Mariana Matioli da Palma
    13. Juliana Maria Ferraz Sallum
    14. Mariam Torres Soto
    15. Kaylie Jones
    16. Paul Yang
    17. Mark Pennesi
    18. Lesley A. Everett

  • Subretinal Gene Therapy Drug AGTC-501 for XLRP Phase 1/2 Multicenter Study (HORIZON)

    American journal of ophthalmology
    1. Paul Yang
    2. David Birch
    3. Andreas Lauer
    4. Robert Sisk
    5. Rajiv Anand
    6. Mark Pennesi
    7. Alessandro Iannaccone
    8. Antonio Yaghy
    9. Abraham Scaria
    10. Jung Ah Jung
    11. Darin Curtiss
    12. Nadia K. Waheed

  • A proposal for an updated staging system for LCHADD retinopathy

    Ophthalmic Genetics
    1. Nida Wongchaisuwat
    2. Melanie B. Gillingham
    3. Paul Yang
    4. Lesley Everett
    5. Ashley Gregor
    6. Cary O. Harding
    7. Jose Alain Sahel
    8. Ken K. Nischal
    9. Hannah L. Scanga
    10. Danielle Black
    11. Jerry Vockley
    12. Georgianne Arnold
    13. Mark E. Pennesi

  • A Prospective, Observational, Noninterventional Clinical Study of Participants With Choroideremia

    American journal of ophthalmology
    1. ROBERT E. MACLAREN
    2. BYRON L. LAM
    3. M. DOMINIK FISCHER
    4. FRANK G. HOLZ
    5. MARK E. PENNESI
    6. DAVID G. BIRCH
    7. EEVA E.V.A.M.A.R.J.A. SANKILA
    8. ISABELLE ANNE MEUNIER
    9. KIMBERLY E. STEPIEN
    10. JULIANA MARIA FERRAZ SALLUM
    11. JIANG LI
    12. D. A.N. YOON
    13. SUSHIL PANDA
    14. JAMES A. GOW

  • Comparative analysis of in-silico tools in identifying pathogenic variants in dominant inherited retinal diseases

    Human molecular genetics
    1. Daniel C. Brock
    2. Meng Wang
    3. Hafiz Muhammad Jafar Hussain
    4. David E. Rauch
    5. Molly Marra
    6. Mark E. Pennesi
    7. Paul Yang
    8. Lesley Everett
    9. Radwan S. Ajlan
    10. Jason Colbert
    11. Fernanda Belga Ottoni Porto
    12. Anna Matynia
    13. Michael B. Gorin
    14. Robert K. Koenekoop
    15. Irma Lopez
    16. Ruifang Sui
    17. Gang Zou
    18. Yumei Li
    19. Rui Chen

  • Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long-chain 3-hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathy

    Journal of inherited metabolic disease
    1. Melanie B. Gillingham
    2. Dongseok Choi
    3. Ashley Gregor
    4. Nida Wongchaisuwat
    5. Danielle Black
    6. Hannah L. Scanga
    7. Ken K. Nischal
    8. Jose Alain Sahel
    9. Georgianne Arnold
    10. Jerry Vockley
    11. Cary O. Harding
    12. Mark E. Pennesi

  • Expanding the phenotypic and genotypic spectrum of patients with HGSNAT-related retinopathy

    Ophthalmic Genetics
    1. Mariana Matioli da Palma
    2. Molly Marra
    3. Austin D. Igelman
    4. Cristy A. Ku
    5. Amanda Burr
    6. Katherine Andersen
    7. Lesley A. Everett
    8. Fernanda B.O. Porto
    9. Juliana Maria Ferraz Sallum
    10. Paul Yang
    11. Mark E. Pennesi

  • Functional Vision in Patients With Biallelic USH2A Variants

    American journal of ophthalmology
    1. Elise Heon
    2. Michele Melia
    3. Laura E. Bocchino
    4. Lassana Samarakoon
    5. Jacque L. Duncan
    6. Allison R. Ayala
    7. Isabelle Audo
    8. Chris Bradley
    9. Janet K. Cheetham
    10. Gislin Dagnelie
    11. Todd A. Durham
    12. Carel B. Hoyng
    13. Nieraj Jain
    14. Kanishka T. Jayasundera
    15. Mark E. Pennesi
    16. Christina Y. Weng

  • Patient-reported visual function outcomes agree with visual acuity and ophthalmologist-graded scoring of visual function among patients with long-chain 3-hydroxyacylcoA dehydrogenase deficiency (LCHADD)

    Molecular Genetics and Metabolism Reports
    1. Ashley N. Gregor
    2. Danielle Black
    3. Nida Wongchaisuwat
    4. Mark Pennesi
    5. Melanie B. Gillingham

  • A DOUBLE HYPERAUTOFLUORESCENT RING IN A 33-YEAR-OLD-FEMALE PATIENT

    Retinal Cases and Brief Reports
    1. Mariana M. Da Palma
    2. Molly Marra
    3. Mark E. Pennesi

  • A G1528C Hadha knock-in mouse model recapitulates aspects of human clinical phenotypes for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

    Communications Biology
    1. Garen Gaston
    2. Shannon Babcock
    3. Renee Ryals
    4. Gabriela Elizondo
    5. Tiffany DeVine
    6. Dahlia Wafai
    7. William Packwood
    8. Sarah Holden
    9. Jacob Raber
    10. Jonathan R. Lindner
    11. Mark E. Pennesi
    12. Cary O. Harding
    13. Melanie B. Gillingham

  • A possible ocular biomarker for response to hyperornithinemia in gyrate atrophy

    Ophthalmic Genetics
    1. Mariana Matioli da Palma
    2. Cristy Ku
    3. Austin D. Igelman
    4. Amanda Burr
    5. Liliya Shevchenko Sutherland
    6. Celide Koerner
    7. David Valle
    8. Mark E. Pennesi
    9. Paul Yang

  • Gene therapy in bestrophinopathies

    Saudi Journal of Ophthalmology
    1. Alessia Amato
    2. Nida Wongchaisuwat
    3. Andrew Lamborn
    4. Ryan Schmidt
    5. Lesley Everett
    6. Paul Yang
    7. Mark E. Pennesi

  • Improved Rod Sensitivity as Assessed by Two-Color Dark-Adapted Perimetry in Patients With RPE65-Related Retinopathy Treated With Voretigene Neparvovec-rzyl

    Translational Vision Science and Technology
    1. Cristy A. Ku
    2. Austin D. Igelman
    3. Samuel J. Huang
    4. Huber Vasconcelos
    5. Mariana Matioli da Palma
    6. Steven T. Bailey
    7. Andreas K. Lauer
    8. Richard G. Weleber
    9. Paul Yang
    10. Mark E. Pennesi

  • Novel Pathogenic Mutations Identified from Whole-Genome Sequencing in Unsolved Cases of Patients Affected with Inherited Retinal Diseases

    Genes
    1. Hafiz Muhammad Jafar Hussain
    2. Meng Wang
    3. Austin Huang
    4. Ryan Schmidt
    5. Xinye Qian
    6. Paul Yang
    7. Molly Marra
    8. Yumei Li
    9. Mark E. Pennesi
    10. Rui Chen

  • Optical coherence tomography angiography of choroidal neovascularization in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)

    American Journal of Ophthalmology Case Reports
    1. Nida Wongchaisuwat
    2. Jie Wang
    3. Paul Yang
    4. Lesley Everett
    5. Ashley Gregor
    6. Jose Alain Sahel
    7. Ken K. Nischal
    8. Mark E. Pennesi
    9. Melanie B. Gillingham
    10. Yali Jia

  • Overcoming the Challenges to Clinical Development of X-Linked Retinitis Pigmentosa Therapies

    Translational Vision Science and Technology
    1. David G. Birch
    2. Janet K. Cheetham
    3. Stephen P. Daiger
    4. Carel Hoyng
    5. Christine Kay
    6. Ian M. Macdonald
    7. Mark E. Pennesi
    8. Lori S. Sullivan

  • Retinitis pigmentosa GTPase regulator‑related retinopathy and gene therapy

    Saudi Journal of Ophthalmology
    1. Nida Wongchaisuwat
    2. Alessia Amato
    3. Andrew E. Lamborn
    4. Paul Yang
    5. Lesley Everett
    6. Mark E. Pennesi

  • Static Perimetry in the Rate of Progression in USH2A-related Retinal Degeneration (RUSH2A) Study

    American journal of ophthalmology
    1. Jacque L. Duncan
    2. Peiyao Cheng
    3. Maureen G. Maguire
    4. Allison A. Ayala
    5. David G. Birch
    6. Janet K. Cheetham
    7. Todd A. Durham
    8. Abigail T. Fahim
    9. Carel B. Hoyng
    10. Hiroshi Ishikawa
    11. Michel Michaelides
    12. Mark E. Pennesi
    13. José Alain Sahel
    14. Katarina Stingl
    15. Christina Y. Weng

  • Subretinal timrepigene emparvovec in adult men with choroideremia

    Nature medicine
    1. Robert E. MacLaren
    2. M. Dominik Fischer
    3. James A. Gow
    4. Byron L. Lam
    5. Eeva Marja K. Sankila
    6. Aniz Girach
    7. Sushil Panda
    8. Dan Yoon
    9. Guolin Zhao
    10. Mark E. Pennesi

  • Systematic assessment of the contribution of structural variants to inherited retinal diseases

    Human molecular genetics
    1. Shu Wen
    2. Meng Wang
    3. Xinye Qian
    4. Yumei Li
    5. Keqing Wang
    6. Jongsu Choi
    7. Mark E. Pennesi
    8. Paul Yang
    9. Molly Marra
    10. Robert K. Koenekoop
    11. Irma Lopez
    12. Anna Matynia
    13. Michael Gorin
    14. Ruifang Sui
    15. Fengxia Yao
    16. Kerry Goetz
    17. Fernanda Belga Ottoni Porto
    18. Rui Chen

  • Vitelliform maculopathy in MELAS syndrome

    American Journal of Ophthalmology Case Reports
    1. Cody Jahrig
    2. Cristy A. Ku
    3. Molly Marra
    4. Mark E. Pennesi
    5. Paul Yang

  • Baseline Microperimetry and OCT in the RUSH2A Study

    American journal of ophthalmology
    1. Eleonora M. Lad
    2. Jacque L. Duncan
    3. Wendi Liang
    4. Maureen G. Maguire
    5. Allison R. Ayala
    6. Isabelle Audo
    7. David G. Birch
    8. Joseph Carroll
    9. Janet K. Cheetham
    10. Todd A. Durham
    11. Abigail T. Fahim
    12. Jessica Loo
    13. Zengtian Deng
    14. Dibyendu Mukherjee
    15. Elise Heon
    16. Robert B. Hufnagel
    17. Bin Guan
    18. Alessandro Iannaccone
    19. Glenn J. Jaffe
    20. Christine N. Kay
    21. Michel Michaelides
    22. Mark E. Pennesi
    23. Ajoy Vincent
    24. Christina Y. Weng
    25. Sina Farsiu

  • Foveal Cone Structure in Patients With Blue Cone Monochromacy

    Investigative Ophthalmology and Visual Science
    1. Emily J. Patterson
    2. Angelos Kalitzeos
    3. Thomas M. Kane
    4. Navjit Singh
    5. Joseph Kreis
    6. Mark E. Pennesi
    7. Alison J. Hardcastle
    8. Jay Neitz
    9. Maureen Neitz
    10. Michel Michaelides
    11. Joseph Carroll

  • Iatrogenic choroidal neovascularization associated with subretinal gene therapy surgery

    American Journal of Ophthalmology Case Reports
    1. Kenneth W. Price
    2. Mark E. Pennesi
    3. Andreas K. Lauer
    4. Steven T. Bailey

  • Injection pressure levels for creating blebs during subretinal gene therapy

    Gene therapy
    1. Brittni A. Scruggs
    2. Huber Martins Vasconcelos
    3. Mariana Matioli da Palma
    4. Katie Kogachi
    5. Mark E. Pennesi
    6. Paul Yang
    7. Steven T. Bailey
    8. Andreas K. Lauer

  • Intravitreal Delivery of rAAV2tYF-CB-hRS1 Vector for Gene Augmentation Therapy in Patients with X-Linked Retinoschisis

    Ophthalmology Retina
    1. Mark Edward Pennesi
    2. Paul Yang
    3. David G. Birch
    4. Christina Y. Weng
    5. Anthony T. Moore
    6. Alessandro Iannaccone
    7. Jason I. Comander
    8. Thiran Jayasundera
    9. Jeffrey Chulay
    10. Deanine Halliman
    11. Matthew Feinsod
    12. Mark Pennesi
    13. David Birch
    14. Lea Bennett
    15. Tahira Scholle
    16. Roomasa Channa
    17. Laura Baker
    18. Jay Stewart
    19. Anthony Moore
    20. Priyatham Mettu
    21. Lejla Vajzovic
    22. K. Thiran Jayasundera
    23. Jason Comander
    24. Neil Bressler
    25. Byron Lam

  • Signal Peptide Variants in Inherited Retinal Diseases

    International journal of molecular sciences
    1. Hiram J. Jimenez
    2. Rebecca A. Procopio
    3. Tobin B.T. Thuma
    4. Molly H. Marra
    5. Natalio Izquierdo
    6. Michael A. Klufas
    7. Aaron Nagiel
    8. Mark E. Pennesi
    9. Jose S. Pulido