SumaPShankarMDPhD

Clinical Genetics, Clinical Molecular Genetics, Pediatric Medical Genetics

Chief, Division of Genomic Medicine Professor, Departments of Pediatrics & Ophthalmology, Director, Precision Genomics, Albert Rowe Endowed Chair in Genetics, Univ Of California Davis School of Medicine

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Office
The MIND Institute 2825 50th St
Genomic Medicine, Department of Pediatrics
Sacramento, CA 95817
Phone+1 916-703-0300

Summary

Dr. Suma Shankar is a medical geneticist in Sacramento, CA. She received her medical degree from Bangalore Medical College and has been in practice 28 years. She also speaks multiple languages, including Kannada. She specializes in clinical genetics, clinical molecular genetics, and pediatric medical genetics and is experienced in mitochondrial diseases, lysosomal storage diseases, clinical genetics, medical biochemical genetics, and biochemical genetics.

Can Genetic Testing Help Shed Light on the Autism Epidemic?

Middle school students come together to spread awareness for National Down Syndr

March 21 is known as National Down Syndrome Day -- a day used to spread resources, statistics, and awareness about the disorder.Mountain View Middle School&rsqu

https://www.cbsnews.com/sacramento/news/young-boy-shines-through-adversity-pursu

At just 6 years old, Shine Arslanian of Garden Valley has Popliteal Pterygium Syndrome and faced more adversity than most, but still, nothing slows him down.

'Nothing holds him back': Child born with 2 very rare conditions gets lifesaving

17 surgeries later, 6-year-old boy runs on prosthetic legs and Paralympic dreams.

Care team and experimental drug help toddler regain mobility

A rare, genetic condition robbed a toddler of her mobility - until her diligent care team and an experimental drug brought it back.

https://www.genomeweb.com/sequencing/despite-record-speed-nanopore-sequencing-fa

Nanopore seq. provides rapid genetic disease diagnostics, however, adequate pretest consent and counseling needs to be given by certified genetic practioners.

Scientists Identify a New Gene Leading to Profound Neurodevelopmental Delays - G

Variants of a novel gene, DPH5, was suggested to be the real culprit of embryonic death and severe neurodevelopmental delays.

Global team of scientists discover a new gene causing severe neurodevelopmental

UC Davis geneticist Suma Shankar led an international team of researchers on a set of studies that resulted in the discovery of a new gene linked to a neurodeve

UC Davis Children's Hospital Joins Genomic Testing Pilot Project

2 million Medi-Cal pilot program 'Project Baby Bear' offers genomic testing to acutely ill newborns

Education & Training

University of California (San Francisco)Residency, Medical Genetics and Genomics, 2007 - 2009
University of Iowa Hospitals and ClinicsFellowship, Pediatric Ophthalmology, 2006 - 2007
University of IowaPhD, Molecular and Cellular Biology, 2000 - 2005
Bangalore Medical CollegeClass of 1989

Certifications & Licensure

CA State Medical License 2016 - 2026
GA State Medical License 2009 - 2017
IA State Medical License 2006 - 2007
American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
The Royal College of Ophthalmologists United KingdomMember of the Royal College of Ophthalmologists
The Royal College of Surgeons EdinburghFellow of Royal College of Surgeons

Awards, Honors, & Recognition

Above and Beyond the Call of Duty University of Iowa Hospitals and Clinics, 2006
Western Scholar Western Society for Pediatric Research, 2009
Henry Christian Award and Certificate of Excellence in Research American Federation for Medical Research, 2009

Clinical Trials

Treatment Protocol of Replagal for Patients With Fabry Disease
No longer available
Drug-Drug Interaction Study Between AT1001 (Migalastat Hydrochloride) and Agalsidase in Participants With Fabry Disease Start of enrollment: 2011 Feb 02
Completed
Phase 2
Safety Study of Replagal® Therapy in Children With Fabry Disease Start of enrollment: 2011 May 12
Completed
Phase 2
Open-Label Phase 3 Long-Term Safety Study of Migalastat Start of enrollment: 2011 Oct 14
Terminated
Phase 3
Longitudinal Studies of Brain Structure and Function in MPS Disorders Start of enrollment: 2009 Sep 01
Completed
Open-Label Extension Study of the Long-Term Effects of Migalastat HCL in Patients With Fabry Disease Start of enrollment: 2015 Mar 14
Completed
Phase 3
First-In-Human Study to Evaluate Safety, Tolerability, and PK of Intravenous ATB200 Alone and When Co-Administered With Oral AT2221 Start of enrollment: 2016 Jan 01
Active, not recruiting
Phase 1, Phase 2
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Publications & Presentations

PubMed

Glaucoma Following Cataract Surgery in Children-Finally, a Clue.
James D Brandt, Suma P Shankar
JAMA Ophthalmology. 2023-09-01
1 citations
Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing.
Kristen Wigby, Monia Hammer, Mari Tokita, Priyanka Patel, Marilyn C Jones
American Journal of Medical Genetics. Part A. 2023-04-01
6 citations
Prader-Willi and Angelman Syndromes: Mechanisms and Management.
Van K Ma, Rong Mao, Jessica N Toth, Makenzie L Fulmer, Alena S Egense
The Application of Clinical Genetics. 2023-01-01

Journal Articles

Proceedings of the Fifth International RASopathies Symposium: When Development and Cancer Intersect
David A Stevenson, Katherine A Rauen, Bruce D Gelb, Corinne M Linardic, Suma Shankar, Brigitte C Widemann, Karen Gripp, Maxim Itkin, American Journal of Medical Genetics Part A
Is Exon 8 the Most Critical or the Only Dispensable Exon of the VCAN Gene? Insights into VCAN Variants and Clinical Spectrum of Wagner Syndrome
Suma Shankar, MD, American Journal of Medical Genetics Part A
Cognitive Computing and Information Processing
Shankar S, Keynote Speaker, 1/1/2016
Atypical presentation of neuronal ceroid lipofuscinosis type 8 in a sibling pair and review of the eye findings and neurological features
Sanchez RL, Yan J, Richards S, Mierau G, Wartchow EP, Collins CD, Shankar SP, American Journal of Ophthalmology Case Reports, 1/1/2016
Genetics in Pediatrics: Genetic diseases that affect child health and development
Journal of the Medical Association of Atlanta, 1/1/2015
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Books/Book Chapters

Emery and Rimoin's Principles and Practice of Medical Genetics
Chapter: Inherited retinal and choroidal dystrophies
Shankar SPEdition 6th,2012
Retinoblastoma
Chapter: Systemic 13q Syndrome
Wells J, Shankar SP, Hubbard BEditors: M.D., Carol L. Shields, M.D., William.2011
Retinal degeneration XIV
Chapter: 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 JRKluwer/Plenum Publishers2005
Handbook of Management of Vitreo-retinal disorders
Chapter: Genetic Testing
Shankar SP and Park SSWorld Scientific Publishing Co.
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Abstracts/Posters

Response of Patients with Fabry Disease with the Amenable GLA Mutation p.N215S to Treatment with Migalastat.
Hughes DA, Nicholls K, Shankar SP, Sunder-Plassmann G, Schiffmann R, Skuban N, Castelli JP, Feldt-Rasmussen U on behalf of the ATTRACT investigators, The American College of Medical Genetics, 1/1/2017
Long-term Efficacy and Safety of Eliglustat in Gaucher Disease Type 1: Results of the Phase 3, Double-Blind, Placebo-Controlled ENGAGE Trial.
Balwani M, Mistry PK, Lukina E, Ben Turkia H, Shankar SP et al, The American College of Medical Genetics, 1/1/2017
Identification of lysosomal acid lipase (LAL) deficiency patients using key existing clinical data points focused on BMI, type 2 hyperlipidemia, and/or fatty liver dis...
Long V, Laney D, Shankar SP, Li H, Molecular Genetics and Metabolism, 1/1/2017
The phenotypic characteristics of the p. N215S Fabry disease genotype in male and female patients: a multi-center Fabry Registry study.
Germain DP, Eva Brand E, Cecchi F, Kempf J, Laney DA, Linhart A, Maródi L, Nicholls K, Pieruzzi F, Shankar SP, Waldek S, Wanner C, Jovanovic A, Molecular Genetics and Metabolism, 1/1/2017
A randomized, phase 3B, open-label, parallel-group study of agalsidase beta in treatment-naive male pediatric patients with Fabry disease without severe symptoms (FIEL...
Ramaswami U, Wijburg FA, Bichet DG, Clarke LA, Dostalova G, Fainboim A, Fellgiebel A, Forcelini C, Haack KA, Hopkin RJ, Mauer M, Najafian B, Scott RC, Shankar SP et al, Molecular Genetics and Metabolism, 1/1/2017
Mistry PK, Lukina E, Turkia HB, Shankar SP, Feldman HB, Ghosn M, Mehta A, Packman S, Lau H, Petakov M, Assouline S, Balwani M, Danda S, Hadjiev E, Ortega A, Wu Y, Gaem..., Molecular Genetics and Metabolism, 1/1/2017
Response of patients with Fabry disease with the amenable GLA mutation p. N215S to treatment with migalastat.
Hughes DA, Nicholls K, Germain DP, Shankar SP, Sunder-Plassmann G, Bichet DG, Schiffmann R, Viereck C, Skuban N, Yu J, Castelli JP, Barth JA, Feldt-Rasmussen U, Molecular Genetics and Metabolism, 1/1/2017
Migalastat improves diarrhea in patients with Fabry disease: results from the FACETS double-blind, placebo-controlled phase 3 study.
Schiffmann R, Bichet DG, Hughes DA, Giugliani R, Wilcox WR, Shankar SP, Germain DP, Viereck C, Castelli JP, Skuban N, Barth JA, Molecular Genetics and Metabolism, 1/1/2017
Precision Genomics in the Diagnosis of Syndromic Vitreo-retinopathies.
Shankar SP, Alexander J, The Western Medical Research Conference, 1/1/2017
Migalastat Improves Gastrointestinal Signs and Symptoms in Patients With Fabry Disease: Patient-Level Responder Analyses From the Double-Blind, Placebo-Controlled Phas...
Schiffmann R, Bichet DG, Hughes DA, Giugliani R, Wilcox WR, Shankar SP, Germain DP, Viereck C, Castelli JP, Skuban N, Barth B, The American Society of Human Genetics, 1/1/2016
Eye findings in Fabry disease and correlation with disease severity.
Shankar SP, Bradley A, Gillespie S, Stelton C, Kharod-Dholakia B, Laney D, Yan J, Molecular Genetics and Metabolism, Lysosomal-Disease-Network, 1/1/2016
Genetic counseling dilemma in neuronal ceroid lipofuscinosis associated with variants of unknown significance in whole exome sequencing: A case report.
Lisi E, Foley A, Shankar SP, Molecular Genetics and Metabolism, Lysosomal-Disease-Network, 1/1/2016
Baffling brain MRI findings in a patient with Gaucher disease.
Long V, Soares B, Shankar SP, Molecular Genetics and Metabolism, Lysosomal-Disease-Network, 1/1/2016
Natural history of Fabry disease in male and female patients with the N215S genotype.
Germain DP; Brand E, Cecchi F, Kempf J, Laney DA, Linhart A, Maródi L, Shankar SP, Waldek S, Wanner C, Molecular Genetics and Metabolism, Lysosomal-Disease-Network, 1/1/2016
Phenotype Based Targeted Next Generation Sequencing Complemented with Microarray Analysis has high yield in Clinical Genetic Testing of Inherited Eye Disorders.
Shankar SP; Yan, Jiong; Richards, Sarah; Bunke, Brian; Hegde, Madhuri; Alexander, John, Investigative Ophthalmology and Visual Science, 1/1/2016
Retinopathy and optic atrophy: expanding phenotypic spectrum of AARS2 gene mutations.
Peragallo JH, Keller S, Cornell K, van der Knaap M, Soares B, Shankar SP, Investigative Ophthalmology and Visual Science, The Association for Research in Vision and Ophthalmology, 1/1/2016
Novel genetic variants causing hereditary vitreoretinopathies.
Bui DK, Jain N, Hubbard B, Shankar SP, Investigative Ophthalmology and Visual Science, 1/1/2016
The diagnosis of neuronal ceroid lipofuscinosis by next generation sequencing eye and seizure panels.
Lisi E, Sanchez R, Richards S, Alexander J, Bean L, Collins C, Gambello M, Shankar SP, The American Society of Human Genetics Meeting, 1/1/2015
Judith Peterschmitt, MD ENGAGE: A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multi-Center Study to Investigate the Efficacy and Safety of Eliglustat in Adu...
Mistry P, Amato DJ, Dasouki M, Packman S, Pastores G, Assouline S, Balwani M, Ortega A, MD; Shankar SP,; Maria Helena Solano, MD; Leorah H. Ross, MD, PhD; Jennifer An..., Molecular Genetics and Metabolism, 1/1/2015
Utility of NGS Based Gene Panels Complemented with Gene Targeted aCGH Deletion/Duplication Analysis and Mitochondrial Genome Sequencing for Eye Related Disorders.
Alexander J, Bunke B, Garber K, da Silva C, Richards S, Hegde M, Shankar SP, The American College of Medical Genetics Meeting, 1/1/2015
Atypical presentation of Neuronal Ceroid Lipofuscinosis 8 in 2 siblings.
Sanchez R, Richards S, Yan J, Collins C, Shankar SP, The American College of Medical Genetics Meeting, 1/1/2015
Retinal Findings in a Family with Spinocerebellar Ataxia Type 7.
Levinson J, Yan J, Scott L, Shankar SP, The American Society of Human Genetics Meeting, 1/1/2015
Effects of oral eliglustat on bone parameters in treatment-naive patients with Gaucher disease type 1: results from the phase 3, randomized, placebo-controlled ENGAGE ...
Mistry P, Amato DJ, Dasouki M, Packman S, Pastores G, Assouline S, Balwani M, Ortega A, Shankar SP, Solano MH, Ross LH, Angell J, Peterschmitt MJ, The American Society of Human Genetics Meeting, 1/1/2015
Survival and developmental milestones among Pompe registry patients with classic infantile-onset Pompe disease with different timing of initiation of treatment with en...
Chien YH, van der P, Jones S, Byrne B, Vellodi A, Leslie N, Mengel E, Shankar SP, Tanpaiboon P, Stockton DW, Journal of Neuromuscular Diseases, 1/1/2015
Amato D, Pastores G, Assouline S, Balwani M, Mistry P, Ortega A, Shankar SP, Solano MH, Ross LH, Angell J Peterschmitt J, The American Society of Human Genetics Meeting, 1/1/2014
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Lectures

Emerging therapies in rare genetic disorders
Centre for Human Genetics, Bangalore, India - 1/1/2017

Press Mentions

Rapid Whole Genome Sequencing Leads to Better Outcomes for Babies, Lower Medical CostsJune 5th, 2021
‘Not experimental anymore’: UCD Med Center expands free testing for Medi-Cal families July 29th, 2020
3-year-old Mikey inspires song as his days are numberedJuly 29th, 2020