International Seminar Series

The Brazilian Genetics Society (SBG), Genetics Society of America (GSA), Latin American Association of Genetics (ALAG), and International Genetics Federation (IGF) are collaborating to host a series of international seminars (in English, via Zoom) highlighting scientists in North, Central, and South America. These one-hour virtual events will showcase the high-quality research being conducted across this region, cover diverse areas in genetics, and foster interactions between research groups. The seminars will be held six times a year and feature speakers from various countries in North, Central, and South America. Each seminar will have dedicated time for audience Q&A with the speaker.

The seminars are free, but registration is required. 

Upcoming seminars:

A Diagnosis for All Rare Genetic Diseases:  The Horizon and Next Frontiers with Kym Boycott

Register today!

Date:

March 7, 2023 from 4:00 PM – 5:00 PM Eastern 

Description:

Accurate diagnosis is the cornerstone of medicine. Progress toward the discovery of the genetic basis of every rare disease (RD) has been substantial over the past decade secondary to the introduction of exome sequencing into both research and clinical environments. However, families with a RD often spend more than five years on a diagnostic odyssey of specialist visits and invasive testing that is lengthy, costly, and often futile. Many patients remain undiagnosed because they are not recognized as having a RD; new approaches using machine learning and electronic health records bring the opportunity to address this particular challenge.  For those patients who do enter the appropriate care pathway, the current diagnostic paradigm for RDs is not designed for those who remain undiagnosed after initial investigations because of several challenges, including interpretation of test results and limitations inherent to the paradigm. An expansion of approaches in the clinic is required for undiagnosed RD patients including some level of data sharing. Leveraging opportunities to participate in research programs that promote international sharing of deeper levels of data and utilizing new technologies to understand RDs is an important path forward. Given recent advancements in such technologies and international initiatives, the prospect of identifying a molecular diagnosis for all patients with RDs has never been so attainable, but achieving this goal will require global cooperation at an unprecedented scale. This presentation will highlight new approaches to RDs that will hopefully enable diagnoses for all such patients in the coming decade.

Speaker Bio

Kym M. Boycott, MD, PhD, FRCPC, FCCMG

CHEO Research Institute, University of Ottawa, Ottawa, Canada

Kym Boycott is a Professor of Pediatrics at the University of Ottawa in Canada, where she is a Clinical Geneticist at the Children’s Hospital of Eastern Ontario (CHEO), Chair of the Department of Genetics, and a Senior Scientist at the CHEO Research Institute. Dr. Boycott is a Tier 1 Canada Research Chair in Rare Disease Precision Health whose research program bridges clinical genomics to basic research and is focused on understanding the molecular pathogenesis of rare diseases to improve patient care and family well-being. She leads the national Care4Rare Canada Consortium integrating genomic and other –omic technologies to improve our understanding of rare disease, with a particular focus on solving the unsolved and most difficult rare diseases. To leverage these discoveries, she co-leads the Canadian Rare Diseases: Models & Mechanisms Network, established to catalyze connections between newly discovered rare disease genes and basic scientists who can rapidly study them in model systems. Globally, she moves the rare disease agenda forward as part of the Global Commission to End the Diagnostic Odyssey for Children.

Moderator bio

Ida Vanessa D. Schwartz, PhD is a medical geneticist and an associate professor of the genetics department at Universidade Federal do Rio Grande do Sul (UFRGS). Currently, she is the head of Medical Genetics Service at Hospital de Clínicas de Porto Alegre, Brazil, which is one of the Brazilian Reference Centers for Rare Disorders. Among the awards and recognitions she has received, some stand out, such as the L’OREAL/Brazilian Academy of Sciences for Women in Science  and her affiliation to the Brazilian Academy of Sciences. She is the scientific director of the Brazilian Society of Medical Genetics and Genomics and member of the Latin American Network of Human Genetics.

 

 

 

 

Previous Seminars

Alberto R. Kornblihtt: Chromatin control of alternative splicing: towards a combined treatment of Spinal Muscular Atrophy

December 5, 2022

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Hopi Hoekstra: The genetic basis of evolutionary change: how (wild) mice adapt to novel habitats

November 7, 2022