Bioinformatic Exploration Hematology Cohort Data Webinar

Event Details

Objectives

Unique discovery opportunities lie at the center of well-characterized cohorts. As patient donors make their gift in becoming part of a disease registry or cohort, the scientific community must ensure a return on their investment by uncovering new treatment targets associated with modifiable disease pathways. This workshop is aimed to develop new partnerships between data science investigators and investigators curating clinical cohorts. The purpose of this workshop is to discuss state of the art tools for identification of disease pathways, particularly in non-malignant hematologic diseases, and to identify the limitations inherent in existing tools. We expect the development of new tools for genotype-phenotype analyses and disease pathway prediction, especially in rare disease cohorts, will provide unique insights into a range of inherited and acquired underlying diseases including the hemoglobinopathies, porphyrias, hereditary iron disorders and bone marrow failure disorders.

Registration Deadline

September 20, 2020

Agenda

September 20, 2020

10:20 a.m. - 10:30 a.m.

Please join ahead of our 10:30 a.m. start

10:30 a.m. - 10:40 a.m.

Welcome
Griffin P. Rodgers, M.D., MACP; Director, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

10:40 a.m. - 10:45 a.m.

Logistics and Charge
Cindy Roy, Ph.D.; NIDDK Hematology Program Officer

Moderator: Shilpa Hattangadi, M.D.; NIDDK Hematology Program Officer

10:45 a.m. – 11:15 a.m.

Genomic Studies of Clonal Evolution in Bone Marrow Failure
Akiko Shimamura, M.D., Ph.D.

11:15 a.m. – 11:30 a.m.

Immunogenomics of Aplastic Anemia: Immune-escape Mediated by Class I/II HLA Somatic Mutations
Simona Pagliuca, M.D.

Moderator: Brian Bai, Ph.D.; National Heart, Lung, and Blood Institute (NHLBI) Hematology Program Officer

11:30 a.m. – 12:00 p.m.

Building a National Data Hub for Sickle Cell Disease Research

12:00 p.m. – 12:15 p.m.

Common Genetic Variation in Human Red Blood Cells Drives Growth Rate Variation in P. falciparum Parasites
Emily Ebel, Ph.D.

Moderator: Kyung Moon, Ph.D.; NHLBI Hematology Program Officer

12:15 p.m. – 12:45 p.m.

ClinGen-facilitated Interactions
Lucy Godley, M.D., Ph.D.

12:45 p.m. – 1:15 p.m.

30 Minute Break

Moderator: Terry Bishop, Ph.D.; NIDDK Hematology Program Officer

1:15 p.m. – 1:45 p.m.

Autocorrection of Hereditary Bone Marrow Failure Disorders
Marshall Horwitz, M.D., Ph.D.

Moderator: John Williams, Ph.D.; National Institute on Aging (NIA) Aging Biology Program Officer

1:45 p.m. – 2:15 p.m.

Emerging Technologies to Study Lineage, Fate, and Dynamics of Native Hematopoiesis
Fernando Camargo, Ph.D.

2:15 p.m. – 2:30 p.m.

Immunogenomics of Paroxysmal Nocturnal Hemoglobinuria (PNH): a Model of Immune Escape
Carmelo Gurnari, M.D.

Moderator: Rebecca Fuldner, Ph.D.; NIA Immunology Program Officer

2:30 p.m. – 3:00 p.m.

Single Cell Level Analyses of Activated Blood Mononuclear Cells
Duygu Ucar, Ph.D.

3:00 p.m. – 3:15 p.m.

Blood Trait Regulatory Sites and Genes Revealed through Genetic Colocalization Analysis
Christopher Thom, M.D., Ph.D.

3: 15 p.m. – 3:20 p.m.

Community Feedback Charge
Robert Star, M.D.; Director, Division of Kidney, Urologic and Hematologic Diseases, NIDDK

3:20 p.m. – 3:45 p.m.

Community Feedback
Moderator: Marshall Horwitz, M.D., Ph.D.; External Organizing Committee Chair

1. What are the barriers confronted when applying bioinformatics approaches to small hematology cohorts?
2. What are the gaps in our knowledge of hematology phenotype-genotype correlations?
3. What computational tools are needed for the hematology community to maximize returns from cohort data?

3:45 p.m.

Adjournment

Abstracts

Submission Deadline

September 4, 2020

Submitting Abstracts

All abstracts must be submitted via email to Danielle Johnikin

Formatting Requirements

Organize the body of the abstract as follows:

• A completed abstract should include an introduction or statement of purpose, methods used, a summary of results, and a conclusion. Statements such as “results will be described” should be avoided.
• Aim for no more than 300 words (not including title, authors’ names, and institutions)
• The abstract should be typed single-spaced using 11-point font.
• The title should be boldface and followed by one return.
• The author list (authors’ first and last names, degrees) with institutions listed in a separate paragraph—including city, state, and country—should be followed by one return.