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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.

  • EVENING TALKS
    The 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.

  • Workshops
  • Neurodegenerative Disease Working Group Evening Lectures
    The NYGC is leveraging the success of the Center for Genomics of Neurodegenerative Disease (CGND) to extend our work across a range of neurodegenerative diseases that have pathways in common with ALS, including Alzheimer’s, Parkinson’s and Huntington’s diseases. The NYGC has created a new Neurodegenerative Disease Working Group, led by Alison Goate, DPhil, Icahn School of Medicine at Mount Sinai, Hemali Phatnani, PhD, NYGC, and Phil De Jager, PhD, MD, MMSc, Columbia University Irving Medical Center, with the objective of bringing together researchers from NYGC’s institutional founding members, NYGC faculty, senior faculty, NYGC technology development and computational scientists, and affiliate members to discuss the underlying disease mechanisms in neurodegenerative disease.

  • Population Genomics Working Group Evening Lectures
    The NYGC has created a Population Genomics Working Group that brings together leading population and statistical geneticists and focuses on human population genomics, statistical analyses, and applications to precision medicine. The group is led by Eimear Kenny, PhD, of the Icahn School of Medicine at Mount Sinai, and Adam Siepel, PhD, of Cold Spring Harbor Laboratory.