Suma P Shankar, MD, Ph.D., FACMG

Assistant Professor

Human Genetics and Ophthalmology

Medical Director

Emory Genetics Laboratory

Office: 167

Phone: 404-778-8570

Additional Contact Information

Mailing Address:

2165 North Decatur Road

Decatur, GA 30033



  • Children’s Healthcare of Atlanta
  • Emory Genetics Clinics
  • Emory Eye Clinic

Research Interests

Clinical Interests:

  • General Genetics including
  • Chromosomal deletion/duplication syndromes
  • Single gene disorders
  • Eye genetic disorders
  • Lysosomal Storage disorders
  • Rasopathies

Areas of Specialization

  • Genetic eye diseases
  • Ophthalmic manifestations of NF/RAS pathway syndromes - NF1 & 2, Noonan, CFC, Costello syndromes
  • Lysosomal Storage disorders


  • MBBS (MD), Bangalore Medical College, Bangalore, India,
  • MRCOphth, Specialty: Ophthalmology, The Royal College of Ophthalmologists, London, UK,
  • FRCS, Ophthalmology, The Royal College of Ophthalmologists affiliated Hospitals, UK,
  • PhD, Molecular Biology, University of Iowa, Iowa City, IA,
  • Residency: Rotating Internship, Bangalore University, Bangalore Medical College affiliatied Hospitals, India,
  • Residency, Ophthalmology, The Royal College of Ophthalmologists affiliated Hospitals, UK,
  • Fellowship, Pediatric Ophthalmology, University of Iowa, Iowa City, IA,
  • Residency, Medical Genetics, Univeristy of California, San Francisco, CA,

Board Certifications

Clinical Genetics

American Board of Medical Genetics


Evaluation of disease burden and response to treatment in adults with type 1 gaucher disease using a validated disease severity scoring system (DS3).
Weinreb NJ, Finegold DN, Feingold E, Zeng Z, Rosenbloom BE, Shankar SP, Amato D.
Orphanet J Rare Dis. 2015 May 22;10(1):64. [Epub ahead of print]

Characterization of early disease status in treatment-naive male paediatric patients with fabry disease enrolled in a randomized clinical trial.
Wijburg FA, Bénichou B, Bichet DG, Clarke LA, Dostalova G, Fainboim A, Fellgiebel A, Forcelini C, An Haack K, Hopkin RJ, Mauer M, Najafian B, Scott CR, Shankar SP, Thurberg BL, Tøndel C, Tylki-Szymańska A, Ramaswami U.
PLoS One. 2015 May 8;10(5):e0124987. doi: 10.1371/journal.pone.0124987. eCollection 2015.

Effect and Tolerability of Agalsidase Alfa in Patients with Fabry Disease Who Were Treatment Naïve or Formerly Treated with Agalsidase Beta or Agalsidase Alfa.
Goker-Alpan O, Nedd K, Shankar SP, Lien YH, Weinreb N, Wijatyk A, Chang P, Martin R.
JIMD Rep. 2015 Mar 31. [Epub ahead of print]

Safety and efficacy results of switch from imiglucerase to velaglucerase alfa treatment in patients with type 1 Gaucher disease.
Elstein D, Mehta A, Hughes DA, Giraldo P, Charrow J, Smith L, Shankar SP, Hangartner TN, Kunes Y, Wang N, Crombez E, Zimran A.
Am J Hematol. 2015 Mar 16. doi: 10.1002/ajh.24007. [Epub ahead of print]

Effect of oral eliglustat on splenomegaly in patients with Gaucher disease type 1: the ENGAGE randomized clinical trial.
Mistry PK, Lukina E, Ben Turkia H, Amato D, Baris H, Dasouki M, Ghosn M, Mehta A, Packman S, Pastores G, Petakov M, Assouline S, Balwani M, Danda S, Hadjiev E, Ortega A, Shankar S, Solano MH, Ross L, Angell J, Peterschmitt MJ.
JAMA. 2015 Feb 17;313(7):695-706. doi: 10.1001/jama.2015.459.

Founder Effect of a c.828+3A>T Splice Site Mutation in Peripherin 2 (PRPH2) Causing Autosomal Dominant Retinal Dystrophies.
Shankar SP, Birch DG, Ruiz RS, Hughbanks-Wheaton DK, Sullivan LS, Bowne SJ, Stone EM, Daiger SP.
JAMA Ophthalmol. 2015 May 1;133(5):511-7. doi: 10.1001/jamaophthalmol.2014.6115.

Fabry disease in infancy and early childhood: a systematic literature review.
Laney DA, Peck DS, Atherton AM, Manwaring LP, Christensen KM, Shankar SP, Grange DK, Wilcox WR, Hopkin RJ.
Genet Med. 2015 May;17(5):323-30. doi: 10.1038/gim.2014.120. Epub 2014 Sep 18.

Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.
Pierpont ME, Magoulas PL, Adi S, Kavamura MI, Neri G, Noonan J, Pierpont EI, Reinker K, Roberts AE, Shankar S, Sullivan J, Wolford M, Conger B, Santa Cruz M, Rauen KA.
Pediatrics. 2014 Oct;134(4):e1149-62. doi: 10.1542/peds.2013-3189. Epub 2014 Sep 1. Review.

Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathies.
Yu-Wai-Man P, Shankar SP, Biousse V, Miller NR, Bean LJ, Coffee B, Hegde M, Newman NJ.
Ophthalmology. 2011 Mar;118(3):558-63. doi: 10.1016/j.ophtha.2010.07.029. Epub 2010 Oct 30.

Genetic factors modifying clinical expression of autosomal dominant RP.
Daiger SP, Shankar SP, Schindler AB, Sullivan LS, Bowne SJ, King TM, Daw EW, Stone EM, Heckenlively JR.
Adv Exp Med Biol. 2006;572:3-8. Review. No abstract available.

Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.
Sullivan LS, Bowne SJ, Birch DG, Hughbanks-Wheaton D, Heckenlively JR, Lewis RA, Garcia CA, Ruiz RS, Blanton SH, Northrup H, Gire AI, Seaman R, Duzkale H, Spellicy CJ, Zhu J, Shankar SP, Daiger SP.
Invest Ophthalmol Vis Sci. 2006 Jul;47(7):3052-64.