University of Arkansas for Medical Sciences Logo University of Arkansas for Medical Sciences
Department of Pediatrics: Section of Genetics and Metabolism

Research

The Genetics Section is proud to participate in a variety of clinical trials and registries, both at our ACH campus and at UAMS.

Here are a few of the endeavors involving our team:

SATB2-Associated Syndrome Multidisciplinary Clinic and Research Program

 Arkansas Children’s Hospital has the distinction of being the only multidisciplinary clinic for SATB2-Associated syndrome in the United States. Led by Dr. Yuri Zarate, this resulted in several externally-funded research projects and extensive publication on this topic.

 

Institute for Digital Health & Innovation (IDHI) High-Risk Pregnancy Program

 Study Sponsor — UAMS, ACH, Arkansas Medicaid, Arkansas Department of Human Services

The purpose of this program is to maintain a Newborn Screening (NBS) Long-term Follow-up Database, tracking, monitoring, and reporting the clinical care and public health outcomes for children diagnosed with a newborn screening condition through the Arkansas Newborn Screening Program through the age of 21 years.

 

Morquio: A Registry Study (MARS)

Study Sponsor — BioMarin (Industry)

Morquio Disease type A is a genetic lysosomal storage disease resulting in storage of specific mucopolysaccharides in the body, specifically causing skeletal anomalies, cardiac disease, pulmonary disease, and other potentially life-threatening diseases.  This is an FDA required registry study monitoring the long-term safety and efficacy of Vimizimâ (elosulfase alfa) to expand knowledge regarding the efficacy and safety of elosulfase alfa in the long-term management of individuals with Morquio disease type A.

 

Rare Disease Registries for Certain Lysosomal Storage Disorders, Including, but Not Limited to Fabry, Gaucher, MPS 1, and Pompe Diseases

Study Sponsor — Sanofi Genzyme (Industry)

This is one of the largest rare disease registries in the world, providing long term safety and efficacy outcome data for individuals with Fabry, Gaucher, Mucopolysaccharidosis type 1, and Pompe diseases.  Through such registries significant insight into the pathophysiology and natural history has been gained advancing the treatment of these conditions.

 

A Phase 3 Open-Label Extension Study to Assess the Long-Term Safety and Efficacy of Intravenous ATB200 Co-Administered with Oral AT2221 in Adult Subjects with Late-Onset Pompe Disease

Study Sponsor — Amicus Therapeutics Indu

This study is an open label extension study of a new treatment for individuals with Pompe disease, which further expands our understanding of the safety and efficacy of the study treatments over a prolonged period.

Published Papers

  • Weinreb NJ, Goker-Alpan O, Kishnani PS, Longo N, Burrow TA, Bernat JA, Gupta P, Henderson N, Pedro H, Prada CE, Vats D, Pathak RP, Wright E, Ficicioglu C. The Diagnosis and Management of Gaucher Disease in Pediatric Patients:  Where Do We Go From Here?   Accepted for publication.
  • Panwala TF, Garcia-Santibanez R, Vizcarra JA, Garcia AG, Verma S. Childhood-Onset Hereditary Spastic Paraplegia (HSP): A Case Series and Review of Literature. Pediatr Neurol. 2022 May;130:7-13. doi: 10.1016/j.pediatrneurol.2022.02.007. Epub 2022 Mar 3. PMID: 35303589.
  • Gonzalez A, Kapur S, Walsh M, Vengoechea J. Two females with distinct de novo missense pathogenic variants in MED12 and vastly differing phenotypes. Am J Med Genet A. 2021 Aug;185(8):2582-2585. doi: 10.1002/ajmg.a.62233. Epub 2021 Apr 29. PMID: 33913598.
  • Gill PS, Yu FB, Porter-Gill, PA, Boyanton BL, Allen JC, Farrar JE, Veerapandiyan A, Prodhan P, Bielamowicz, KJ, Sellars EA, et al. Implementing Pharmacogenomics Testing: Single Center Experience at Arkansas Children’s Hospital. J Pers Med. 2021 May;11(5):394 PMID: 34064668
  • Voisin NV, Schnur RE, Douzgou S, [et al. including Sellars EA] Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy. Am J Human Genet. 2021 May:108(5): 857-73. PMID:  33961779
  • Abell K, Chadwell SE, Burrow TA, Becker APP, Bailey L, Steele P, Zhang X, Islas-Ohlmayer M, Bittencourt R, Schwartz IVD, Prada CE.Outcomes of Screening for Gammopathies in Children and Adults with Gaucher Disease type 1 in a Cohort from Brazil and the United States. Am J Med Genetic C Semin Med Genet.  2020 Dec;184(4):1052-9. PMID:  33277783
  • Mistry P, Balwani, M, Barbouth D, Burrow TA, Ginns EI, Goker-Alpan O, Grabowski, GA, Kartha RV, Kishnani PS, Lau H, Lee CU, Lopez G, Maegawa G, Packman S, Prada C, Rosenbloom B, Lal TR, Schiffmann R, Weinreb N, Sidransky E.  Mol Genet Metab.  2020. Jul 130(3):164-9.  PMID:  32471800.
  • Gonzalez Garcia A, Malone J, Li H. A novel mosaic variant on SMC1A reported in buccal mucosa cells, albeit not in blood, of a patient with Cornelia de Lange-like presentation. Cold Spring Harb Mol Case Stud. 2020 Jun 12;6(3):a005322. doi: 10.1101/mcs.a005322. PMID: 32532882; PMCID: PMC7304356.
  • Cyrus S, Cohen A. SA, Agbahovbe R, Avela K, Yeung K.S … Gonzalez Garcia, A … Gibson W. Rare SUZ12 Variants Commonly Cause an Overgrowth Phenotype. American Journal of Medical Genetics Part C: Seminars in Medical Genetics. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):532-547. doi: 10.1002/ajmg.c.31748. PMID: 31736240
  • Gonzalez Garcia A, Tutmaher MS, Upadhyayula SR, Sanchez Russo R, Verma S. Novel PLEC gene variants causing Congenital Myasthenic Syndrome (CMS). Muscle & Nerve. 2019 Sep 11. doi:10.1002/mus.26703. PMID: 31509265
  • Samanta D, Ramakrishnaiah R, Crary SE Burrow TA.  Multiple Autoimmune Disorders in Aicardi-Goutieres Syndrome.  Pediatr Neurol. 2019.  Jul 96:37-9.  PMID:  30898416
  • Lesmana H, Vawter Lee M, Hosseini SA, Burrow TA, Hallinan B, Bove K, Schapiro M, Hopkin RJ.  CNTNAP1-Related Congenital Hypomyelinating Neuropathy.  Pediatr Neurol.  2019. Apr 93:43-9.  PMID:  30686628
  • Stone J, Peng Y, Chamberlin A, Harris B, Kaylor J, McDonald MT, Lemmon M, El-Dairi MA, Tcapyjnikov D, Gonzalez-Krellwitz LA, Sellars EA, et al. Biallelic mutations in FDXR cause neurodegeneration associated with inflammation. J Hum Genet. 2018 Dec:63(12):1211-22. PMID: 30250212
  • Meta KA, Teng X, Coppens I, Lamb HM, Wagner BE, Rosenfeld JA, Chen X, Zhang Y, Kim, HJ, Meadow ME, Wang TS, Haberlandt ED, Anderson GW, Leshinsky-Silver, E, Bi W, Markello TC, Pratt M, Makheed N, Garnica A, Danylchuk NR, Burrow TA, Hayakar P, McKnight D, Agadi S, Gbedawo H, Stanley C, Alber M, Prehl I, Peariso K, Ong, MT, Mordekar SR, Parker MJ, Crooks, D, Agrawal, PB, Berry GT, Loddenkemper T, Yang Y, Maegawa GHB, Aouacheria A, Markle JG, Wohlschlegel JA, Hartman A, Hardwick JM.  KCTD7 Deficiency Defines a Distinct Neurodegenerative Disorder with a Conserved Autophagy-Lysosome Defect.   Annals Neurol.  2018. Nov 84(5):766-80.  PMID:  30295347
  • Coman D, Vissers LELM, Riley L, Kwint MP, Hauck R, Koster J, Geuer S, Hopkins S, Sweetman L, Engelke UFH, Burrow TA, Cardinal J, McGill J, Inwood A, Gurnsey C, Waterham HR, Christodoulou J, Wevers R, Pitt J.  Squalene Synthase Deficiency; Clinical, Biochemical, and Molecular Characterization of a Novel Defect of Cholesterol Biosynthesis.  Am J Hum Genet.  2018 Jul 103(1):125-130.  PMID:  29909962
  • Serai SD Naidu AP, Burrow TA, Prada CE, Xanthakos S, Towbin AJ.  Correlating Liver Stiffness with Disease Severity Scoring System (DS3) Values in Gaucher Disease type 1 (GD1) Patients.  Mol Genet Metab. 2018 Mar 123(3):357-63. PMID:  29361370
  • Powell AW, Taylor MD, Burrow TA, Hopkin RJ, Prada CE, Jefferies JL. Widespread Vasculopathy in a Patient with Morquio A Syndrome. Tex Heart Inst J. 2017 Dec 44(6):420-423. PMID:  29276444
  • Kury S, van Woerden GM, Besnard T, Proietti Onori M, Latypova X, Towne MC, Cho MT, Prescott TE, Ploeg MA, Sanders S, Stressman HAF, Pujol A, Distel B, Robak LA, Bernstein JA, Denomme-Pichon AS, Lesca G, Sellars EA, et al. De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. Am J Hum Genet. 2017 Nov:101(5):768-788 PMID: 29100089
  • Mistry PK, Batista JL, Andersson HC, Balwani M, Burrow TA, Charrow J, Kaplan P, Khan A, Kishnani PS, Kolodny EH, Rosenbloom B, Scott CR, Weinreb N.  Transformation in Pre-Treatment Manifestations of Gaucher Disease Type 1 During Two Decades of Alglucerase/Imiglucerase Enzyme Replacement Therapy in the International Collaborative Gaucher Group (ICGG) Registry.  Am J. Hematol. 2017 Sep 92(9):929-39. PMID:  28569047.
  • Osborn DP, Pond HL, Mazaheri N, Dejardin J, Munn CJ, Mushref K, Cauley ES, Moroni I, Pasanisi MB, Sellars EA, et al. Mutations in INPP5K cause a form of congenital muscular dystrophy overlapping Marinesco-Sjogren syndrome and dystroglycanopathy. Am J Human Genet. 2017 Mar:100(3):537-45 PMID: 28190459
  • Cox TM, Drelichman G, Cravo R, Balwani M, Burrow TA, Martins AM, Lukina E, Rosenbloom B, Goker-Alpan O, Watman N, El-Beshlawy A, Kishnani, PS, Pedroso ML, Gaemers SJ, Tayag R, peterschmitt MJ.  Eliglustat Maintains Long-Term Clinical Stability in Patients with Gaucher Disease Type 1 Stabilized on Enzyme Therapy.  Blood.  2017 Apr  27 129(17):2375-83.  PMID:  28167660
  • Pandey MK, Burrow TA, Rani R, Martin LJ, Witte D, Setchell KD, MckayMA, Magnusen AF, Zhang W, Liou B, Kohl J, Grabowski GA.  Complement Drives Glucosylceramide Accumulation and Tissue Inflammation in Gaucher Disease.  Nature.  2017 Mar 2:543(7653):103-112.  PMID:  28225753

Book Chapters

  • Vengoechea Jaime, Gonzalez Garcia Aixa (April 2020) “Intellectual and Developmental Disabilities” in Handbook of Clinical Adult Genetics and Genomics: A Practice-Based Approach. Academic Press; 1st edition. 2020 April 13. Paperback ISBN: 9780128173442, eBook ISBN: 9780128173459

Letters to the Editor

  • Grant N, Burrow TA.  Evaluating Psychosocial Stressors in Families of Children with Inborn Errors of Metabolism.  Mol Genetic Metab Rep.  2021 Mar 31;27.  PMID:  34136354

 

  • Mistry PK, Balwani M, Baris HN, Turkia HB, Burrow TA, Charrow J, Cox GF, Danda S, Dragosky M, Grelichman G, El-Beshlawy A, Fraga C, Freisens S, Gaemers S, Hadjiev E, Kishnani PS, Lukina E, Maison-Blanche P, Martins AM, Pastores G, Petakov M, Peterschmitt MJ, Rosenbaum H, Rosenbloom B, Underhill LH, Cox TM.  Safety, Efficacy, and Authorization of Eliglustat as a First-Line Therapy in Gaucher Disease Type 1. Blood Cells Mol Dis.  2018 Jul. 71:71-74. PMID:  29680197