Pediatrics, Medical Genetics

• 

  People

  • Administrative Positions

    • Kishnani, Priya Sunil, Chief, Division of Medical Genetics

  • Professorships

    • Bissig, Karl-Dimiter, Chen Family Associate Professor of Pediatrics
    • Kishnani, Priya Sunil, Chen Family Distinguished Professor of Pediatrics

  • Primary Appointments

    • Bali, Deeksha Sarihyan, Professor of Pediatrics
    • Bissig, Karl-Dimiter, Associate Professor in Pediatrics
    • Bissig-Choisat, Beatrice Edith Monique, Assistant Professor in Pediatrics
    • Chen, Yuan-Tsong, Professor Emeritus of Pediatrics
    • Cohen, Jennifer L., Assistant Professor of Pediatrics
    • Crawford, Gregory E., Professor in Pediatrics
    • de las Barzi Dieguez, Maria, Medical Instructor in the Department of Pediatrics
    • El-Gharbawy, Areeg Hassan, Associate Professor of Pediatrics
    • Kishnani, Priya Sunil, Professor of Pediatrics
    • Koeberl, Dwight D., Professor of Pediatrics
    • McConkie-Rosell, Allyn, Professor in Pediatrics
    • McDonald, Marie Theresa, Professor of Pediatrics
    • Millington, David Stuart, Professor Emeritus of Pediatrics
    • Niyazov, Dmitriy, Instructor in the Department of Pediatrics
    • Shashi, Vandana, Professor of Pediatrics
    • Stiles, Ashlee R., Associate Professor of Pediatrics
    • Sun, Baodong, Associate Professor in Pediatrics
    • Tan, Khoon Ghee, Consulting Associate in the Department of Pediatrics, Medical Genetics
    • Young, Sarah Phyllis, Professor of Pediatrics

  • Secondary Appointments

    • Case, Laura Elizabeth, Associate Professor in Pediatrics
• 

  Administers Grant

  • 1/5 International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome
  • 3/3 Chromatin regulation during brain development and in ASD
  • A Clinical Trial of Donepezil for Down Syndrome
  • A Global, Phase 1/2, Open Label, Dose Escalation Study to Evaluate the Safety, Pharmacodynamics, and Pharmacokinetics of mRNA-3704 in Patients with Isolated Methylmalonic Acidemia Due to Methylmalonyl-CoA Mutase Deficiency
  • A Global, Phase 1/2, Open-label, Dose Escalation Study to Evaluate the Safety, Pharmacodynamics, and Pharmacokinetics of mRNA-3927 in Participants with Propionic Acidemia
  • A Multicenter, dOuble-blind, ranDomized, placebo-controlled, parallel-group study to determine the effIcacy and safety of lucerastat oral monotherapy in adult subjects with FabrY disease.
  • A Multicenter, longitudinal, non-drug study to assess the suitability of neurocognitive tests and functioning scales for the measurement of cognitive and functioning changes in children with Down syndrome BP29589.
  • A PHASE 3 DOUBLE-BLIND RANDOMIZED STUDY TO ASSESS THE EFFICACY AND SAFETY OF INTRAVENOUS ATB200 CO-ADMINISTERED WITH ORAL AT2221 IN ADULT SUBJECTS WITH LATE-ONSET POMPE DISEASE COMPARED WITH ALGLUCOSIDASE ALFA
  • 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
  • A Phase 1 Study of the Safety of AAV8-LSPhGAA (ACTUS-101) in Late-onset Pompe Disease (LOPD)- Cohort II
  • A Phase 1/2, Global, Open-Label, Extension Study to Evaluate the Long-Term Safety and Clinical Activity of mRNA-3927 in Participants Previously Enrolled in the mRNA-3927-P101 Study
  • A Phase 3, Randomized, Double-blind, Placebo-controlled Study of Adeno-associated Virus Serotype 8-mediated Gene Transfer of Glucose-6-phosphatase in Patients With Glycogen Storage Disease Type Ia
  • A Phase I Study of the Safety of AAV2/8 LSPhGAA in Late-onset Pompe Disease
  • A Prospective Non-interventional Study in Subjects with Late-onset Pompe Disease who are Currently Being Treated with Enzyme Replacement Therapy
  • A Prospective Safety Sub-Registsry to Assess Anaphylaxis and Severe Allegric Reactions and Severe Cutaneious and Systemic Immune-mediated Reactions with Alglucosidase Alfa Treatment
  • A Prospective observational study to describe outcomes of alglucosidase alfa treatment in patients <6 months of age with infantile-onset Pompe disease (IOPD)
  • A Prospective, Long Term Registry of Patients with a Diagnosis of Spinal Muscular Atrophy
  • A Randomized, Double blind, Active Control Study of the Safety and Efficacy of PRX-102 compared to Agalsidase Beta on Renal Function in Patients with Fabry Disease Previously Treated With Agalsidase Beta
  • A Retrospective Characterization of Response to Enzyme Replacement Therapy in Late-onset Pompe Disease
  • A Three-month, Randomized, Parallel Active Control, Single and Repeat Dose, Dose-escalation Study of the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Preliminary Efficacy of VAL-1221 Delivered Intravenously (IV) in Ambulatory and Vent
  • A longitudinal retrospective chart review of adults with HPP treated with asfotase alfa
  • A novel neural circuit analysis paradigm to model autism in mice
  • A novel paradigm to dissect the function connectivity in Shank3 autism model
  • A retrospective chart review study to assess the clinical outcome of triheptanoin treatment in patients with long-chain fatty acid oxidation disorders (LC-FAOD) treated under expanded access program
  • A retrospective, non-interventional, epidemiologic study of the natural history of patients with juvenile-onset hypophosphatasia (HPP)
  • A study of patient -reported health masures in adult patients with Pompe disease
  • A study to identify the frequency of lysosomal acid lipase deficiency in at-risk patient populations
  • AAV Gene Therapy for the Treatment of GSD IX y2: Determination of Efficacy between Duke Plasmids and Kriya Plasmids for restoring PHKG2
  • AAV Gene Therapy for the Treatment of GSD IX y2: Determination of Titer of Duke AAVs using Kriya Titering Methodologies
  • AAV Gene Therapy for the Treatment of GSD VI and IX a2: Determination of Efficacy between Duke Plasmids and Kriya Plasmids for restoring PYGL and PHKA2 (the "Project") Addendum #8
  • AAV gene therapy for the treatment of Glycogen Storage Disease IX y2
  • AAV-mPhkg2 Gene Therapy for the treatment of GSD IXy2
  • ACMG Foundation Next Generation
  • AN OPEN-LABEL, ASCENDING-DOSE, FIRST-INHUMAN STUDY TO ASSESS THE SAFETY, TOLERABILITY, AND PHARMACOKINETICS OF INTRAVENOUS INFUSIONS OF ATB200 ALONE AND ATB200 CO-ADMINISTERED WITH ORAL AT2221 IN ADULT SUBJECTS WITH POMPE DISEASE
  • Activity and Biodistribution of the AAV2/8-LSPhGAA in GAA-knockout mice
  • Alexion Adult HPP PK Study
  • Amicus ATB200+-04
  • An Open-Label Dose-Escalation Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of a Single Dose of mRNA-3745 in Participants with Glycogen Storage Disease Type 1a (GSD1a)
  • An Open-Label Study to Evaluate the Efficacy, Safety and Pharmacokinetics, Pharmacodynamics, and Immunogenicity of Cipaglucosidase Alfa/Miglustat in both ERT Experienced and ERT Naive Pediatric Subjects with Infantile- Onset Pompe Disease Aged 0 < 18
  • An Open-label, Ascending-Dose, First-in-Human Study to Assess the Safety, Tolerability, and Pharmacokinetics of Intravenous Infusions of ATB200 Alone and ATB200 Co-administered with Oral AT2221 in Adu
  • An Open-label, Dose-Finding, Phase 1/2 Study to Evaluate the Safety and Tolerability of a Single Intravenous Dose of LY3884961 in Patients with Peripheral Manifestations of Gaucher Disease
  • An Open-label, Multicenter, Single-arm, Phase 4 Study of the Effect of Treatment with Velaglucerase alfa on Bone-related Pathology in Treatment-naive Patients with Type 1 Gaucher Disease
  • An Open-label, Multinational, Multicenter, Intravenous Infusion Study of the Efficacy, Saftey, Pharmacokinetics, and Pharmacodynamics of Avalglucosidase Alfa in Treatment-naive Pediatric Participants with Infantile-Onset Pompe Disease (IOPD)
  • An integrated and diverse genomic medicine program for undiagnosed diseases
  • An observational, longitudinal prospective, long-term registry of patients with hypophosphatasia
  • An open-label ascending dose cohort study to assess the safety, pharmacokinetics, and preliminary efficacy of neoGAA (GZ402666) in patients with infantile-onset Pompe disease treated with alglucosidase alfa who demonstrate clinical decline
  • Analysis of Shank3 Complete and Temporal and Spatial Specific Knockout Mice
  • Analysis of a urinary glucose tetrasaccharide in a mouse model of Pompe disease
  • Analysis of acid alpha-glucosidase (GAA) activity in the suspected patients in US population; GAA full gene sequence analysis in positively identified patients for Pompe disease
  • Analysis of acide alpha-glucosidase (GAA) enzyme activity and full gene sequencing in the suspected US patient population
  • Anaplerotic Therapy Using Triheptanoin for Patients with Glycogen Storage Disease type I
  • Beyond GWAS: High Throughput Functional Genomics & Epigenome Editing to Elucidate the Effects of Genetic Associations for Schizophrenia
  • Biomarker studies in plasma from patients with Gaucher disease
  • Blood spot GAA Enzyme Testing and GAA Gene Sequencing for Patients Suspected to have Pompe Disease
  • CHARACTERIZATION OF GSD IX ¿2 and GSD VI MOUSE MODELS
  • Cellular and Molecular Systems Biology of Preterm Birth
  • Chromatin regulation during brain development and in ASD
  • Clinical Trial Planning in Pompe Disease
  • Comprehensive Identification of Active Functional Elements in Human Chromatin
  • Decoding schizophrenia-From GWAS to functional regulatory variants
  • Defining the clinical characteristics for clinical trial endpoints of GSD VI and IX
  • Developing Brain-penetrant G9a/GLP Inhibitors for Treating Prader-Willi Syndrome
  • Developing a management approach for patients with the "late-onset" Pompe disease GAA variant identified by newborn screening
  • Development and validation of a UPLC-MS/MS assay for urinary keratan sulfate (uKS)
  • Development and validation of skin fibroblast Cross Reactive Immunological (CRIM) assay for MPSIIIa.
  • Development of a Novel Cognitive Remediation Program for 22q11 Deletion Syndrome
  • Dietary therapy in mitochondrial trifunctional protein deficiency
  • Discovery and validation of genetic variation impacting the gene regulatory landscape during human cortical development
  • Dissecting AAV silencing in humanized mice
  • Down Syndrome Clinical Trials Network
  • Epigenetic Modulation of Therapeutic Targets in FRG Mice
  • Evaluation of children with the "late-onset" Pompe disease GAA variants identified by newborn screening: Guidance for in person or virtual monitoring
  • Evaluation of the use of Myozyme for treatment of glycogen storage disease type III and IV in murine disease models
  • Evaluation of urinary Hex4 in Pompe and wild-type mice
  • Factors in Immune Response Affecting Long-term Treatment Outcomes in Pompe disease
  • Factors in Immune Response Affecting Long-term Treatment Outcomes in Pompe disease (CRIM)
  • Factors in Immune Response Affecting Long-term Treatment Outcomes in Pompe disease (CRIM)
  • Feasibility of using Bortezomib-based immunosuppressive approach to deplete anti-AAV antibodies in mice
  • GAA-iTEM: Personalizing the Prediction of Anti-therapeutic Antibody Response in Pome Disease Patients
  • GSD III Clinical Data Manuscript Preparation
  • GSD IV Database Study
  • GSD Ib Natural History Study
  • GWAS TO GENE FUNCTION: NOS1AP AND OTHER QT INTERVAL GENES
  • Gene Therapy for Pompe Disease
  • Gene delivery to striated muscle by systemic AAV vectors
  • Gene therapy by Lipid Nanoparticle-Mediated Delivery of Agl Messenger RNA in GSD III dogs
  • Gene therapy for Adult polyglucosan body disease (APBD)
  • Gene therapy for glycogen storage disease type III
  • Generation of a genome-wide DNAse hypersensitive library
  • Genes, genomes, and genotoxicity: in vivo epigenetic toxicology of 1,3-butadiene
  • Genetic epidemiology of rare and regulatory variants for metabolic traits
  • Genome editing for the correction of Pompe disease
  • Genomics, variation, and evolution of cerebellar circuits linked to higher cognitive functions in humans
  • Identification of candidate genes for Pompe disease phenotype modifier genes
  • Identifying Pathogenic Non-Coding Mutations in Rare Mendelian Disease
  • Immunophenotyping of infantile Pompe disease
  • Immunophenotyping of patients with MPS II treated with enzyme replacement therapy
  • In vivo efficacy studies of Fab-GAA treatment for GSDII, III, and IV in murine disease models
  • Inborn Errors of Long Chain Fat Metabolism
  • Intraarticular Gene Therapy for Canine Mucopolysaccharidosis Type I Joint Disease
  • Investigating Autophagy in GSD-Ia
  • LDN: CRIM responses in Pompe disease
  • LSD Registry
  • Lab on a Chip for Multiplexed Newborn Screening of Lysosomal Storage Disease
  • Late Onset Pompe Disease Patient Meeting 2015
  • Liver-directed AAV gene therapy for PHKG2-Glycogen Storage Disease IX (GSD IX y2)
  • Liver-specific knockdown of M6PR with RNAi therapeutics to increase enzyme delivery to muscle tissues of Pompe disease mice during ERT
  • Long Term Follow-up and Treatment Outcomes for Individuals with Pompe Disease
  • Long-Term registry of patients with urea Cycle Disorders (UCD) HPN-100-014
  • Lysosomal Disease Network Fellowship
  • MaP: Mapping the Patient Journey in Methylmalonic and Propionic Acidemia A longitudinal, exploratory, natural history study to further characterize and describe the signs and symptoms of patients with organic acidemias
  • Measurement of LAL enzyme activity and LIPA gene sequencing on suspected Wolman and CESD disease patients
  • Measurement of acylcarnitine, carnitine, and acetyl-L-carnitine levels in coded samples
  • Measurement of acylcarnitine, carnitine, and acetyl-L-carnitine levels in coded samples from subjects with depressive episodes
  • Mechanisms for immune tolerance in Pompe Disease
  • Mechanisms of Liver Toxicity of Anti-Depressant Duloxetine
  • Molecular Mechanism In Type Iii Glycogen Storage Disease
  • Molecular Mechanism In Type Iii Glycogen Storage Disease
  • Molecular and circuitry mechanism underlying autism behaviors in Shank3 mouse models
  • Morquio A Registry Study
  • Neural correlates of working memory in children with 22q11.2 deletion syndrome
  • New Indications for Beta2 Agnoists in Glycogen Storage Disease Type Ia, NAFLD/NASH, and Pompe Disease
  • Newborn Screening Pilot Studies IDIQ with TO B, MPS II
  • Novel strategy for diagnosis of Pompe patients using next generation sequencing technologies
  • Observational Study of Males with Creatine Transporter Deficiency
  • Optimized GAA (GAA) as potentially improved therapeutic for the treatment of Pompe disease
  • Pfizer/ACMG Foundation Clinical Genetics Combined Residency for Translational Genomic Scholars 2015-2016 Fellowship Award
  • Pharmacodynamic study using rhaGLU in a Pompe mouse model. Nonclinical GAA-KO mouse study design proposal rhaGLU
  • Phase 1 Study of In Utero Enzyme Replacement Therapy for the Treatment of Lysosomal Storage Diseases
  • Phase 1/2 Study of Clenbuterol for the Treatment of Pompe Disease
  • Phase 3, Open-Label, Single-Arm, Single-Dose Gene Replacement Therapy Clinical Trial for Patients with Spinal Muscular Atrophy Type 1 with One or Two SMN2 Copies Delivering AVXS-101 by Intravenous Infusion
  • Physiological Dissection of the Mevalonate Pathway
  • Pompe Developmental IPAD Study
  • Potency Assays
  • Preclinical study of use of SVP-Rapamycin to induce immune tolerance to ERT in Pompe disease mice
  • Rapid Neonatal Testing for Ammonia Disorder Biomarkers
  • Reformulation of Pharmaceutical to Treat ALS
  • Residency in Medical Genetics at Duke University
  • Residency/Fellowship Training in Medical Genetics
  • Risk Factors for Psychosis in Chromosome 22q11 Deletion Syndrome
  • Roche Phase 2 Screening Study
  • Role of Whole Body MRI as a Non-Invasive Technique for Characterizing Disease and Treatment Efficacy in Infantile Onset Pompe disease
  • Stable therapy in Pompe disease through genome editing
  • Supplemental Funding for Phase 1/2 study of Clenbuterol for the Treatment of Pompe Disease
  • Systems Toxicogenomics of Endocrine Disrupting Chemicals in Brain
  • TBR agonists for treatment in GSD Ia
  • The role of inhibitory neurons in microcephaly and seizure caused by Asparagine synthetase (ASNS) deficiency
  • Therapeutic pathway reprogramming for metabolic liver disease
  • Therapeutic potential of CRISPR/Cas9 genome engineering in humanized mouse
  • To test the ability of SVP to prevent immune response in Pompe disease mouse model.
  • Training course for expanded (MS/MS) newborn screening laboratory follow-up coordinators
  • Transfer of AAV-hPHKG2 Materials for Bridging Study
  • Transfer of H&E stained liver slides from Phkg2-/- mice treated with AAV-mPhkg2 to Experimental Pathology Laboratories, Inc.
  • Transfer of livers from WT mice in Study 1: MED Investigation
  • Understanding cognitive and neurological pathologies in infantile Pompe disease
  • Understanding cognitive and neurological pathologies in infantile Pompe disease CNS
  • Understanding cognitive and neurological pathologies in infantile Pompe disease CNS
  • Untargeted transcriptomics of Phkg2-/- liver and plasma (the "Project")
  • Urinary Glc4 as a Marker of Glycogen Synthesis
  • Validation of next generation humanized mouse models
  • What about adolescence? Living with genetic risk
  • eLLiPSIS¿A Longitudinal, Observational Study to Examine the Measurement Characteristics of the Pompe Disease Symptom Scale and the Pompe Disease Impact Scale

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