Heme biosynthesis is one of the oldest, most evolutionarily conserved, highly regulated, and essential metabolic pathways in humans. However, our understanding of the pathway's tissue-specific regulation, enzyme structures and catalytic mechanisms, intra/inter-cellular metabolite transport, as well as the pathogenesis of its inherited and acquired disorders, the porphyrias, remain subjects of active investigation. Current efforts are elucidating the role of modifying genes in the tissue-specific expression of the heme enzymes (e.g., ClpX, ClpP), transport of the pathway's metabolites (e.g., ABCB6, PEPT2, FLVCR1), and interaction of ferrochelatase with other mitochondrial proteins to form heme. Moreover, patients with normal heme biosynthetic gene sequences, but who have the metabolic hallmarks of the acute hepatic (markedly elevated porphyrin precursors) or erythropoietic (marked elevated protoporphyrin IX) porphyrias indicate the existence of unknown regulatory elements in the heme biosynthetic genes, or undiscovered porphyria causing genes. Therefore, it's timely to bring together international experts to present and discuss the latest basic, translational, and clinical studies of the pathway and its disorders, including emerging therapies. A two-day Research Conference is planned for January 13-14, 2018 in Atlanta, Georgia. In addition to the latest research presented by international experts, the meeting focus will include panel discussions to address current unresolved knowledge gaps and to stimulate future collaborative research. These panel discussions will be held after each of the sessions and be moderated by the session chairs. To foster trainee career development, each session will have two 10 minute presentations plus 5 minutes of discussion of selected trainee abstracts. In addition, we will offer two trainee/junior faculty breakfast ?talk tables? with experienced mentors to discuss career development and research projects, and two lunch ?talk tables? with our invited speakers to discuss their research presentations and stimulate trainee interest/research. This R13 application requests support for registration costs for trainees and junior faculty, travel awards for selected abstracts submitted by trainees/junior faculty, and other costs such as printing syllabi and CME fees. Additional industry support will be sought for foreign speaker travel, meeting announcements, hotel costs (audio-visual equipment, conference room fees, etc.) and publication costs. We anticipate the Conference attendees will include pre- and post- doctoral fellows, medical and MD/PhD students, junior faculty, and established basic and applied research scientists, as well as physician scientists working in heme biosynthesis and its disorders. The Conference will be advertised in appropriate Journals and Society communications to inform American and foreign basic and clinical investigators and interested healthcare providers. In conjunction with the proposed Research Conference, we will also organize a separate one-day program to provide clinicians and researchers with the latest clinical, diagnostic, and treatment advances for the hepatic and erythropoietic porphyrias. 1

Public Health Relevance

A two-day Research Conference is proposed for January 13-14, 2018 in Atlanta, Georgia. This conference will focus specifically on mammalian heme biosynthesis and the human porphyrias. In addition to the latest research presented by international expert investigators, a meeting focus will be discussing current unresolved knowledge gaps to stimulate future collaborative research. A large part of our Conference will be dedicated to career development for trainees and engaging them in these fields of research.

Agency
National Institute of Health (NIH)
Institute
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Type
Conference (R13)
Project #
1R13DK115170-01
Application #
9397902
Study Section
Special Emphasis Panel (ZDK1)
Program Officer
Sherker, Averell H
Project Start
2017-07-20
Project End
2018-06-30
Budget Start
2017-07-20
Budget End
2018-06-30
Support Year
1
Fiscal Year
2017
Total Cost
Indirect Cost
Name
Icahn School of Medicine at Mount Sinai
Department
Genetics
Type
Schools of Medicine
DUNS #
078861598
City
New York
State
NY
Country
United States
Zip Code
10029