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New York Genome Center

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Address
101 Sixth Ave.
New York, New York 10013


Upcoming Events

RARE DISEASE GENETICS: UNLOCKING INSIGHTS FOR ALL

February 28, 2018 6:30 pm - 8:30 pm

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.