Deeksha Sarihyan Bali, PhD



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Professor of Pediatrics
Department / Division:
Pediatrics / Pediatrics-Medical Genetics
801 Capitola Drive
Suite 6
Durham, NC 27713
Office Telephone:
(919) 549-0445
  • PhD, Guru Nanak University (India), 1987
Research Interests:
1)Development of new non-invasive laboratory diagnostic methods using enzymology and molecular diagnostic techniques for Glycogen Storage Diseases (GSDs) and Lysoosmal Storage Diseases (LSDs) like Pompe, Fabry, Gaucher, MPS - for early diagnosis and treatment modalities. Exploration of new high throughput diagnostic platforms with an idea of implementation into New born screening (NBS)of these diseases.

2)Clinical research studies associated with Pompe disease with a goal to improve the diagnosis, current therapies and patient care, with special emphasis on clinical development of Cross Reactive Immunologic Material (CRIM) diagnostic methods and association with underlying pathogenic GAA mutations and clinical correlations.

3) Clinical research studies involving other common LSDs (Fabry, MPSI,II,IVa and VI, Gaucher, Wolman disease and more) focusing on early diagnsosis and new born screening.

4)Understanding the hepatocellular adenoma (HCA) and hepatocellular carcinomas (HCC) transformation in GSD I, using paired samples from resected adenomas and adjoining liver tissue. Experiments use SNP and expression microarray analysis, miRNA and CNV analysis in collaboration with other investigators.

5)Pursuing genotype-phenotype correlations for various clinical phenotypes of GSD IX, in order to better understand clinical heterogeneity. Severe phenotypes of GSD IX resulting in liver cirrhosis and Cardiac involvement are of special inetrest to us, especially their association with the underlying pathogenic mutations.

6)Research on Pompe/Mannose-6-phosphate receptor (M6PR300) double knock out mice to understand the role of M6PR in rhGAA uptake and glycogen clearance and also beta-agonist like Clenbuterol.

Representative Publications:
  • Goldstein, JL; Austin, SL; Boyette, K; Kanaly, A; Veerapandiyan, A; Rehder, C; Kishnani, PS; Bali, DS. Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III. Genetics in Medicine. 2010;12:424-430.  Abstract
  • Case, LE; Koeberl, DD; Young, SP; Bali, D; DeArmey, SM; Mackey, J; Kishnani, PS. Improvement with ongoing Enzyme Replacement Therapy in advanced late-onset Pompe disease: a case study. Molecular Genetics and Metabolism. 2008;95:233-235.  Abstract
  • Pompe Disease Diagnostic Working Group, ; Winchester, B; Bali, D; Bodamer, OA; Caillaud, C; Christensen, E; Cooper, A; Cupler, E; Deschauer, M; Fumi¿, K; Jackson, M; Kishnani, P; Lacerda, L; Ledvinová, J; Lugowska, A; Lukacs, Z; Maire, I; Mandel, H; Mengel, E; Müller-Felber, W; Piraud, M; Reuser, A; Rupar, T; Sinigerska, I; Szlago, M; Verheijen, F; van Diggelen, OP; Wuyts, B; Zakharova, E; Keutzer, J. Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting. Molecular Genetics and Metabolism. 2008;93:275-281.  Abstract
  • Raju, GP; Li, HC; Bali, DS; Chen, YT; Urion, DK; Lidov, HG; Kang, PB. A case of congenital glycogen storage disease type IV with a novel GBE1 mutation. Journal of Child Neurology. 2008;23:349-352.  Abstract
  • Demo, E; Frush, D; Gottfried, M; Koepke, J; Boney, A; Bali, D; Chen, YT; Kishnani, PS. Glycogen storage disease type III-hepatocellular carcinoma a long-term complication?. Journal of Hepatology. 2007;46:492-498.  Abstract
  • Gregory, BL; Shelton, GD; Bali, DS; Chen, YT; Fyfe, JC. Glycogen storage disease type IIIa in curly-coated retrievers. Journal of Veterinary Internal Medicine. 2007;21:40-46.  Abstract
  • Kallwass, H; Carr, C; Gerrein, J; Titlow, M; Pomponio, R; Bali, D; Dai, J; Kishnani, P; Skrinar, A; Corzo, D; Keutzer, J. Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots. Molecular Genetics and Metabolism. 2007;90:449-452.  Abstract
  • Kishnani, PS; Corzo, D; Nicolino, M; Byrne, B; Mandel, H; Hwu, WL; Leslie, N; Levine, J; Spencer, C; McDonald, M; Li, J; Dumontier, J; Halberthal, M; Chien, YH; Hopkin, R; Vijayaraghavan, S; Gruskin, D; Bartholomew, D; van der Ploeg, A; Clancy, JP; Parini, R; Morin, G; Beck, M; De la Gastine, GS; Jokic, M; Thurberg, B; Richards, S; Bali, D; Davison, M; Worden, MA; Chen, YT; Wraith, JE. Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology. 2007;68:99-109.  Abstract
  • Burrow, TA; Hopkin, RJ; Bove, KE; Miles, L; Wong, BL; Choudhary, A; Bali, D; Li, SC; Chen, YT. Non-lethal congenital hypotonia due to glycogen storage disease type IV. American Journal of Medical Genetics Part A. 2006;140:878-882.  Abstract
  • Jack, RM; Gordon, C; Scott, CR; Kishnani, PS; Bali, D. The use of acarbose inhibition in the measurement of acid alpha-glucosidase activity in blood lymphocytes for the diagnosis of Pompe disease. Genetics in Medicine. 2006;8:307-312.  Abstract
  • Jennett, AM; Bali, D; Jasti, P; Shah, B; Browning, LA. Telithromycin and myasthenic crisis. Clinical Infectious Diseases. 2006;43:1621-1622.  Abstract
  • Jones, K; Garg, M; Bali, D; Yang, R; Compton, S. The knowledge and perceptions of medical personnel relating to outcome after cardiac arrest. Resuscitation. 2006;69:235-239.  Abstract
  • Kishnani, PS; Steiner, RD; Bali, D; Berger, K; Byrne, BJ; Case, LE; Crowley, JF; Downs, S; Howell, RR; Kravitz, RM; Mackey, J; Marsden, D; Martins, AM; Millington, DS; Nicolino, M; O'Grady, G; Patterson, MC; Rapoport, DM; Slonim, A; Spencer, CT; Tifft, CJ; Watson, MS. Pompe disease diagnosis and management guideline. Genetics in Medicine. 2006;8:267-288.  Abstract
  • Zhang, H; Kallwass, H; Young, SP; Carr, C; Dai, J; Kishnani, PS; Millington, DS; Keutzer, J; Chen, YT; Bali, D. Comparison of maltose and acarbose as inhibitors of maltase-glucoamylase activity in assaying acid alpha-glucosidase activity in dried blood spots for the diagnosis of infantile Pompe disease. Genetics in Medicine. 2006;8:302-306.  Abstract
  • Ahmad, F; Arad, M; Musi, N; He, H; Wolf, C; Branco, D; Perez-Atayde, AR; Stapleton, D; Bali, D; Xing, Y; Tian, R; Goodyear, LJ; Berul, CI; Ingwall, JS; Seidman, CE; Seidman, JG. Increased alpha2 subunit-associated AMPK activity and PRKAG2 cardiomyopathy. Circulation. 2005;112:3140-3148.  Abstract
  • Das, BB; Narkewicz, MR; Sokol, RJ; Chen, YT; Bali, D; Li, SC; Matthews, MR; Mierau, GW; Ivy, DD. Amylopectinosis disease isolated to the heart with normal glycogen branching enzyme activity and gene sequence. Pediatric Transplantation. 2005;9:261-265.  Abstract
  • Franco, LM; Krishnamurthy, V; Bali, D; Weinstein, DA; Arn, P; Clary, B; Boney, A; Sullivan, J; Frush, DP; Chen, YT; Kishnani, PS. Hepatocellular carcinoma in glycogen storage disease type Ia: a case series. Journal of Inherited Metabolic Disease. 2005;28:153-162.  Abstract
  • Chen, YT; Bali, D; Sullivan, J. Prenatal diagnosis in glycogen storage diseases. Prenatal Diagnosis. 2002;22:357-359.  Abstract
  • Matern, D; Seydewitz, HH; Bali, D; Lang, C; Chen, YT. Glycogen storage disease type I: diagnosis and phenotype/genotype correlation. European Journal of Pediatrics. 2002;161 Suppl 1:S10-S19.  Abstract