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Avinash Dharmadhikari, PHD, DABMGG, NYCQ

Assistant Director, Clinical Genomics Laboratory
Assistant Professor of Clinical Pathology, USC Keck School of Medicine

Dr. Avinash Dharmadhikari is the Assistant Director of the Clinical Genomics Laboratory at Children's Hospital Los Angeles. He is an Assistant Professor of Clinical Pathology at the Keck School of Medicine of USC. He is board certified in Laboratory Genetics and Genomics by the American Board of Medical Genetics and Genomics (ABMGG). His major areas of research interest include utility of next generation sequencing technologies in management of underdiagnosed disorders and identification of the cytogenic and molecular basis of genetically heterogeneous neurodevelopmental disorders.

Dr. Dharmadhikari received his Ph.D. (2015) from Baylor College of Medicine in Houston, Texas and his M.S. (2010) from the University at Buffalo, The State University of New York. He received his B.S. Pharmaceutical Sciences (2008) from the Institute of Chemical Technology in Mumbai, India. After receiving his Ph.D., Dr. Dharmadhikari worked at Baylor Genetics in Houston, Texas as a Clinical Genomics Scientist and then went on to work as a Clinical Variant Curator at Natera in San Carlos, California. Before coming to CHLA, Dr. Dharmadhikari was a Postdoctoral Research Scientist in the Department of Pathology and Cell Biology at Columbia University where he also completed an American Board of Medical Genetics and Genomics (ABMGG), Laboratory Genetics and Genomics fellowship at the same time.

Education

Medical School

PhD, Translational Biology and Molecular Medicine, Baylor College of Medicine, Houston

Graduate School

MS, Clinical Biotechnology, University at Buffalo, State University of New York, Buffalo

Fellowship

American Board of Medical Genetics and Genomics (ABMGG), Laboratory Genetics & Genomics (LGG) fellow 2021

Accomplishments

Certifications

American Board of Medical Genetics and Genomics: Laboratory Genetics & Genomics
New York State Department of Health: Cytogenetics, Genetic Testing, Oncology-Molecular and Cellular Tumor Markers

Professional Memberships

ClinGen Intellectual Disability (ID)/Autism Gene Curation Expert Panel (GCEP), Member
American College of Medical Genetics and Genomics (ACMG), Trainee Member
Association for Molecular Pathology (AMP), Trainee Member
Cancer Genomics Consortium (CGC), Trainee Member

Awards

2005-2007 Academic Excellence in Pharmaceutical Sciences, Sir Ratan Tata Trust, Mumbai
2011 HHMI Med-into Grad Scholar, Baylor College of Medicine, Houston
2012 Student Travel Award, American Cytogenetics Conference, San Antonio

Publications

  1. Dharmadhikari AV, Pereira EM, Andrews CC, Macera M, Harkavy N, Wapner R, Jobanputra V, Levy B, Ganapathi M, Liao J. Case Report: Prenatal Identification of a De Novo Mosaic Neocentric Marker Resulting in 13q31.1→qter Tetrasomy in a Mildly Affected Girl. Front Genet. 2022 Jul 19;13:906077. doi: 10.3389/fgene.2022.906077. PMID: 35928455; PMCID: PMC9343796.
  2. Riggs ER, Bingaman TI, Barry CA, Behlmann A, Bluske K, Bostwick B, Bright A, Chen CA, Clause AR, Dharmadhikari AV, Ganapathi M, Gonzaga-Jauregui C, Grant AR, Hughes MY, Kim SR, Krause A, Liao J, Lumaka A, Mah M, Maloney CM, Mohan S, Osei-Owusu IA, Reble E, Rennie O, Savatt JM, Shimelis H, Siegert RK, Sneddon TP, Thaxton C, Toner KA, Tran KT, Webb R, Wilcox EH, Yin J, Zhuo X, Znidarsic M, Martin CL, Betancur C, Vorstman JAS, Miller DT, Schaaf CP. Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels. Genet Med. 2022 Sep;24(9):1899-1908. doi: 10.1016/j.gim.2022.05.001. Epub 2022 May 26. PMID: 35616647.
  3. Stanley KE, Giordano J, Thorsten V, Buchovecky C, Thomas A, Ganapathi M, Liao J, Dharmadhikari AV, Revah-Politi A, Ernst M, Lippa N, Holmes H, Povysil G, Hostyk J, Parker CB, Goldenberg R, Saade GR, Dudley DJ, Pinar H, Hogue C, Reddy UM, Silver RM, Aggarwal V, Allen AS, Wapner RJ, Goldstein DB. Causal Genetic Variants in Stillbirth. N Engl J Med. 2020 Sep 17;383(12):1107-1116. doi: 10.1056/NEJMoa1908753. Epub 2020 Aug 12. PMID: 32786180; PMCID: PMC7604888.
  4. Dharmadhikari AV, Ghosh R, Yuan B, Liu P, Dai H, Al Masri S, Scull J, Posey JE, Jiang AH, He W, Vetrini F, Braxton AA, Ward P, Chiang T, Qu C, Gu S, Shaw CA, Smith JL, Lalani S, Stankiewicz P, Cheung SW, Bacino CA, Patel A, Breman AM, Wang X, Meng L, Xiao R, Xia F, Muzny D, Gibbs RA, Beaudet AL, Eng CM, Lupski JR, Yang Y, Bi W. Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases. Genome Med. 2019 May 17;11(1):30
  5. Abdelhakim AH*, Dharmadhikari AV*, Ragi SD, Lima de Carvalho JR, Xu CL, Thomas A et al. Compound heterozygous inheritance of two novel COQ2 variants result in familial coenzyme Q deficiency. (Under Review- Orphanet Journal of Rare Diseases) (*equal contribution).
  6. Soucy M, Dharmadhikari AV, Tanka AJ, Ragi S, Tsang S. Molecular Genetic Testing approaches for retinitis pigmentosa. (Under Review-Springer Methods in Molecular Biology).
  7. Normand EA, Braxton A, Nassef S, Ward PA, Vetrini F, He W, Patel V, Qu C, Westerfield LE, Stover S, Dharmadhikari AV et al. Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected mendelian disorder. Genome Med. 2018;10(1):74. PMID: 30266093.
  8. Cheng H*, Dharmadhikari AV, Kleyner R, Yoon M, Stray-Pederson A et al. Loss-of-function variants in NAA15 are associated with variable levels of developmental delay, with or without autism spectrum disorders, dysmorphic features and cardiac anomalies. Am J Human Genet. 2018;102(5):985-994. PMID: 29656860 (*equal contribution).
  9. Meng L, Pammi M, Saronwala A, Magoulas P, Ghazi A, Vetrini F, Zhang J, He W, Dharmadhikari AV et al. Utility of exome sequencing for infants in intensive care units: ascertainment of severe single-gene disorders and impact on medical management. JAMA Pediatr. 2017; 171(12):e173438. PMID: 28973083.
  10. Dharmadhikari AV*, Sun JJ*, Gogolewski K, Carofino BL, Ustiyan V et al. Lethal lung hypoplasia and vascular defects in mice with conditional Foxf1 overexpression. Biol Open. 2016; 15;5(11):1595-1606. PMID: 27638768 (*equal contribution).
  11. Szafranski P, Gambin T, Dharmadhikari AV, Akdemir KC, Jhangiani SN et al. Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins. Hum Genet. 2016; 135(5):569-86. PMID: 27071622.
  12. Dharmadhikari AV, Szafranski P, Kalinichenko VV, Stankiewicz P. Genomic and epigenetic complexity of the FOXF1 locus in 16q24.1: Implications for development and disease. Current Genomics 2015; 16(2); 107-116. PMID: 26085809.
  13. Dharmadhikari AV*, Gambin T*, Szafranski P*, Cao W, Probst FJ, Jin W et al. Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite. BMC Med Genet. 2014;15(1):128. PMID: 25472632 (*equal contribution).
  14. Szafranski P, Dharmadhikari AV, Wambach JA, Towe CT, White FV et al. Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins. Am J Med Genet A. 2014; 164A (8):2013-9. PMID: 24842713.

Research

  • Utility of Next Generation Sequencing Technologies in Management of Underdiagnosed Disorders
  • Identification of the Cytogenic and Molecular Basis of Genetically Heterogenous Neurodevelopmental Disorders
2100 W 3rd St, Los Angeles, CA 90057, USA

2100 W 3rd St
Los Angeles, CA 90057
United States