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.
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
MODERATOR & SPEAKERS
Max Gomez, PhD
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
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
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.
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.
+FIVE POINTSFive Points lecture series bring leading scientists from around the world for an in-depth discussion of their work with students, researchers and clinicians from the New York Genome Center, its member institutions, and others in the medical/scientific community. While Five Points lectures are free and open to the general public, these lectures are most beneficial to scientists, clinicians and researchers who wish to accelerate their research through the use of DNA sequencing technology and bioinformatics. Five Points lectures often frame five or so key points, in a nod to the series’ name — followed by 15 minutes of Q&A, and 30 minutes of networking over hors d’oeuvres and cocktails. These afternoon events are held in the Center’s state-of-the-art ground-floor auditorium starting at 4 pm.
+EVENING TALKSThe New York Genome Center’s Evening Talks events feature distinguished experts from around the world sharing genomic insights and research. They are intended to showcase and explain high science to the non-scientific community. Speakers present the latest research findings and explain its implication for helping improve clinical care for a wide array of serious diseases. The lecture is followed by a lively question-and-answer session and a post-event reception of hors d’oeuvres and cocktails. These popular free public events are held in the Center’s state-of-the-art ground-floor auditorium starting at 6:30 pm. The Evening Talks Series is sponsored by The New York Community Trust – Pyewacket Fund.
+New York Cancer Genomics Research NetworkTo advance collaborative efforts on cancer genomics, the New York Genome Center (NYGC) hosts meetings on the first Tuesday of every month to bring together leading cancer researchers, clinicians and postdocs from the NYGC’s Institutional Founding Members and other key academic institutions. The organizers include Drs. Harold Varmus (Weill Cornell Medicine & NYGC), Marcin Imielinski (Weill Cornell Medicine & NYGC), Ross Levine (Memorial Sloan Kettering Cancer Center) and Sohail Tavazoie (The Rockefeller University).