About INFORM Scientific Network

Jerry Vockley is the Scientific Organizer of INFORM. He is also the Director of the Center for Rare Disease Therapy at the Children's Hospital of Pittsburgh. He is an internationally recognized expert in the field of inborn metabolism errors as well as fatty acid oxidation disorders.

An infant presenting clinically with CPTII deficiency which was missed by standard newborn screening.

An infant presenting clinically with CPTII deficiency which was missed by standard newborn screening. Presented By: 1,2Anita, Inwood, BaRN, GradDip, MNP, anita.inwood@health.qld.gov.au, +61415674527 1Michelle Lipke, MBBS, FRACP, HGSA (clinical Geneticist), 1Kalli Demetriou, MBBS 1Talhee Minto, MBBS 3Gabriel Crisp, BaSc 1,2David Coman, MBBS, MPHIL, FRACP, HGSA [...]

By |2019-11-18T17:27:38+00:00October 9th, 2019|

Designer triglycerides: A practical approach to deliver alternative fatty acids to treat fatty acid oxidation disorders

Designer triglycerides: A practical approach to deliver alternative fatty acids to treat fatty acid oxidation disorders Presented By: Al-Walid Mohsen, PhD1,2,* ,Anuradha Karunanidhi, MS1, Clinton Van’t Land PhD1, and Ahmad AlodaibPhD1, Jerry Vockley, MD, PhD1,2 1Department of Pediatrics and 2Department of Human Genetics, University of [...]

By |2019-11-18T17:36:57+00:00October 9th, 2019|

VLCAD deficient patient fibroblasts show improvement with peroxisomeproliferator activated receptor drug treatment

VLCAD deficient patient fibroblasts show improvement with peroxisomeproliferator activated receptor drug treatment Presented By: Olivia D’Annibale, MPH1, Anuradha Karunanidhi, MS2, Colin O’Carroll, PhD, MBA3, Jerry Vockley, MD, PhD1,2, and Al-Walid Mohsen, PhD1,2,* 1Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA, 2Department of Pediatrics, [...]

By |2019-10-09T13:38:52+00:00October 9th, 2019|

Identifying Rare Metabolic Disorders of Energy Dysfunction in Patients with Treatment-Resistant Depression

Identifying Rare Metabolic Disorders of Energy Dysfunction in Patients with Treatment-Resistant Depression Presented By: Kaitlyn Bloom, Ph.D.1, Michael Arcieri1, Yu Leng Phua, Ph.D.1, Lisa Pan, M.D.3, Jerry Vockley, M.D., Ph.D 1,2,4. 1School of Medicine, University of Pittsburgh, Pittsburgh, 15224, USA; 2Graduate School of Public Health, [...]

By |2019-10-09T13:36:23+00:00October 9th, 2019|

HMGCS2 deficiency in Japan: Characterization of wild-type and 5 variant proteins in vitro.

HMGCS2 deficiency in Japan: Characterization of wild-type and 5 variant proteins in vitro. Presented By: Yasuhiko Ago M.D.,PhD Student1, Hiroki Otsuka M.D.2, Elsayed Abdelkreem M.D.,Ph.D.3, Hideo Sasai M.D.,Ph.D.1,4, Mina Nakama Ph.D.1,4, Yuka Aoyama Ph.D.1, Yoriko Watanabe M.D.,Ph.D.5, Kaori Fukui M.D.5, Kazuteru Kitsuda M.D.6, Tomoko Lee [...]

By |2019-10-09T13:22:51+00:00October 9th, 2019|

A mutation creating an upstream translation initiation codon in SLC22A5 5’UTR is a frequent cause of primary carnitine deficiency

A mutation creating an upstream translation initiation codon in SLC22A5 5’UTR is a frequent cause of primary carnitine deficiency Presented By: Sacha Ferdinandusse, Heleen te Brinke, Jos P.N. Ruiter, Janet Haasjes, Wendy Oostheim, Henk van Lenthe, Lodewijk IJlst, Merel S. Ebberink, Ronald J.A. Wanders, Frédéric [...]

By |2019-11-18T17:24:56+00:00October 9th, 2019|

Fatty acid oxidation-respiratory chain proteins and their interactions are abnormal in end-stage cardiomyopathy.

Fatty acid oxidation-respiratory chain proteins and their interactions are abnormal in end-stage cardiomyopathy. Presented By: Yudong Wang, Ph.D.1, Johan Palmfeldt, 2, Neils Gregersen2, Alexander M. Makhov3, James F. Conway3, Areeg El-gharbawy1, and Jerry Vockley, M.D., Ph.D.1,4 1University of Pittsburgh School of Medicine, Department of Pediatrics, [...]

By |2019-10-09T13:12:30+00:00October 9th, 2019|

Clinical Implementation of Pharmacogenomics in the treatment of Inborn Errors of Metabolism

Clinical Implementation of Pharmacogenomics in the treatment of Inborn Errors of Metabolism Presented By: Ruben Bonilla Guerrero, MD, FACMG, FAACC Sanjeda R. Chumki, PharmD, RPh Inborn errors of metabolism (IEM) are a group of inherited disorders in which molecular abnormalities occur in genes [...]

By |2019-11-18T17:30:28+00:00October 9th, 2019|

Demystifying Pharmacogenomics Testing, Clinical Applications, and Implementation

Demystifying Pharmacogenomics Testing, Clinical Applications, and Implementation Presented By: Ruben Bonilla Guerrero, MD, FACMG, FAACC Sanjeda R. Chumki, PharmD, RPh Pharmacogenomics is the study of how genes affect a person’s response to drugs. Pharmacogenomics testing combines pharmacology (the science of drugs) and genomics [...]

By |2019-11-18T17:33:05+00:00October 9th, 2019|

Very long-/ and long Chain-3-Hydroxy Acyl CoA Dehydrogenase Deficiency correlates with deregulation of the mitochondrial fusion/fission machinery

Very long-/ and long Chain-3-Hydroxy Acyl CoA Dehydrogenase Deficiency correlates with deregulation of the mitochondrial fusion/fission machinery   Presented By: Judith Hagenbuchner1, Sabine Scholl-Buergi2, Daniela Karall2 & Michael J. Ausserlechner2 1Department of Pediatrics II, Medical University Innsbruck, Innsbruck, Austria. 2Department of Pediatrics I, Medical University [...]

By |2019-10-09T13:05:48+00:00October 9th, 2019|
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