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February
2018
28
Rare Disease Genetics: Unlocking Insights for All

6:30 PM — 8:30 PM

Join us for a discussion with our scientist panel to learn more about rare disease.

See New York Genome Center’s lecture series, events and archives VIEW FULL CALENDAR

About

Rare Disease Genetics: Unlocking Insights for All 

 

 

Wednesday, February 28, 2018

6:00 PM: Doors Open

6:30 PM: Presentations, Panel Discussion & Audience Q&A

7:30 PM: Cocktail Reception

 

 

101 Avenue of the Americas, First Floor Auditorium

 

 

 

Join us for a discussion with our scientist panel to learn more about: 

 

  • The widespread impact of rare diseases

(7,000 known rare diseases, 300 million worldwide affected, 50 percent of rare disease patients are children)

 

  • How next-generation sequencing has uncovered the genes responsible more than 50 percent of all rare diseases

 

  • How the genomic study of rare diseases has advanced the understanding of all diseases

 

  • How using cutting-edge methods to analyze genetic variants is responsible for rare

disease risks

 

REGISTER

 

 

MODERATOR & SPEAKERS

 

 

Max Gomez, PhD

Medical Correspondent

CBS News

 

Co-Author

Cells are the New Cure: The Cutting-Edge Medical Breakthroughs That Are Transforming Our Health

 

Dr. Max Gomez, is a nine-time Emmy Award-winning medical correspondent with more than 30 years of broadcast experience. A highly regarded journalist, moderator and public speaker, Dr. Gomez has earned an outstanding reputation for translating complex medical topics into compelling stories. He has a special interest in genomics and aging, and is the co-author of the just released book, Cells are the New Cure: The Cutting-Edge Medical Breakthroughs That Are Transforming Our Health.

 

To learn more about Dr. Gomez, visit his website.

 

 

 

 

Tuuli Lappalainen, PhD

Core Faculty Member

New York Genome Center

 

Assistant Professor, Department of Systems Biology

Columbia University

 

Tuuli Lappalainen, PhD, is a Core Faculty Member at the New York Genome Center (NYGC). She holds a joint appointment as Assistant Professor in the Department of Systems Biology at Columbia University.

 

Dr. Lappalainen’s research focuses on functional genetic variation in human populations and its contribution to traits and diseases. She has pioneered the integration of large-scale genome and transcriptome sequencing data to understand how genetic variation affects gene expression, providing insight to cellular mechanisms underlying genetic risk for disease.

 

 

 

To learn more about Dr. Lappalainen’s research, visit her lab page.

 

 

 

 

Jean-Laurent Casanova, MD, PhD

Professor, St. Giles Laboratory of Human Genetics of Infectious Diseases

The Rockefeller University

 

Investigator

Howard Hughes Medical Institute

 

Dr. Casanova is a physician-scientist who studies the genetics of human predisposition to pediatric infectious diseases, particularly mycobacterial diseases, invasive pneumococcal diseases, and herpes simplex encephalitis. He is interested in identifying Mendelian “holes” in the immune defense of otherwise healthy children who are susceptible to specific infectious diseases, work that has resulted in a paradigm shift in human clinical medicine and fundamental immunology.

 

To learn more about Dr. Casanova’s research, visit his lab page.

 

 

 

 

 

Bruce D. Gelb, MD

Gogel Family Professor and Director, Mindich Child Health and Development Institute

Professor, Pediatrics and Genetics and Genomic Sciences

Icahn School of Medicine at Mount Sinai

 

Dr. Bruce Gelb’s research focuses on using genetic approaches to understand the causes of cardiac defects. His group identified the first gene for Noonan syndrome (PTPN11) and has made several other gene discoveries for the RASopathies. The Gelb group continues to search for new RASopathy genes, to explore the biology of those disorders and to search for potential therapies for them.

 

To learn more about Dr. Gelb’s research, visit his lab page.

 

 

 

 

 

Google Scholar

 

To read more about Dr. Lappalainen’s research, please visit – Google Scholar – Tuuli Lappalainen, PhD

 

To read more about Dr. Casanova’s research, please visit – Google Scholar – Jean-Laurent Casanova, MD, PhD

 

To read more about Dr. Gelb’s research, please visit – Google Scholar – Bruce Gelb, PhD

 

 

 

The Evening Talks Series is sponsored by The New York Community Trust – Pyewacket Fund.