Program Sponsors 2018

Sessions & Presenters

Sessions

Positive Exposure: Seeing Beyond Diagnosis

Rick Guidotti

Learning Objectives:

  • Describe the social and psychological experiences of people of all ages and ethno-cultural heritages living with genetic, physical, behavioral and cognitive conditions.

Beginning with the world of fashion photography, the lecture will explore cultural perceptions of beauty in modern society while concurrently exploring cultural perceptions of people living with genetic, physical, behavioral and intellectual difference.  This investigative study will delve deeper by initially exploring the social and psychological experiences of people of all ages and ethno-cultural heritages living with albinism around the world.  Regions covered include: the United States, UK, Panama, Fiji, New Zealand, Australia, Malaysia, China and Korea as well as the African countries of Cameroon, Mali, South Africa, Kenya and Tanzania.  This global journey will further consider the importance of self-acceptance and self-esteem as necessary ingredients for bringing about self-advocacy with regards to individuals and their families living with difference.  Additional genetic conditions explored will include Chromosome 18, Marfan, Sturge Weber, Noonan Syndrome, Costello Syndrome, CFC and NF.  The importance of providing alternatives to imagery currently used in medical education will be addressed. Images of several genetic conditions will be presented as a stark contrast to existing imagery in medical education today, while also emphasizing that these alternative images filled with humanity still provide just as much information necessary for educational purposes.

  • Discuss ways to best meet the needs of children and families with, or at risk for a genetic disorder.

This lecture will create opportunities to hear from and explore the experiences of people living with a variety of genetic, physical, behavioral and intellectual differences. The lecture will not only provide a “lens” into a variety of genetic disorders, but also give a “voice” to those people featured in the photographs as well as that of their respective families.  Audiences will have the opportunity to hear from individuals and their families living with genetic disorders through innovative multi-media tools developed by Positive Exposure specifically designed to educate and provide insight into what it means to live with a genetic, physical, behavioral and intellectual difference.  Samples from Positive Exposure’s Faces Redefining the Art of Medical Education (FRAME) and Positive Exposure Ambassadors Real Life Stories (PEARLS) Project will be presented and discussed with regards to how such information helps healthcare providers better meet the needs of children and families with, or at risk for a genetic disorder.

  • Explore opportunities to see each individual living with a genetic difference first and foremost as a human being with his/her own special needs, rather than as a specific diagnosis/disease entity.

This lecture will facilitate experiential opportunities for audiences to see individuals and their families living with genetic, physical, behavioral and intellectual differences as people, not just as subjects.  Images and stories will be presented in contrast to assumptions about a person living with a particular genetic condition.  The lecture focuses on the hope and real lives of individuals and their families with, or at risk for a genetic disorder, and the importance of seeing and understanding the human side of genetics in medical education and healthcare today.


Evidence based genomic approaches to prenatal testing

Sylvie Langlois

At the end of the session, the participants will be able to:

  • Identify approaches and performance of NIPT for common aneuploidy.
  • Identify approaches and performance of NIPT for subchromosomal abnormalities.
  • Identify indications for NSG panel testing or whole exome sequencing in prenatal diagnosis.

Ethical, social and legal aspects of the shifting landscape of prenatal testing

Vardit Ravitsky

At the end of the session, the participants will be able to:

  • Identify and Discuss the ethical and social issues emerging from recent changes in prenatal testing pathway.
  • Identify the challenges of the disability rights critique of prenatal testing.
  • Recognize and be familiar with the possible legal implications of NIPT for clinicians.

The Future is NOW - Coping with the Challenges and Innovating Solutions in the Genetics Clinic & Laboratory.

Are you excited about the new technologies and discoveries in genetics or do you feel overwhelmed by the high volume and increasing complexity of cases for interpretation and counselling? Do your non-geneticist colleagues understand what you do?  Have you ever thought about how the model for the delivery of genetic services could be radically changed and improved?  This highly interactive workshop will be an opportunity for you to chart the next 5 years of medical genetics in Canada.

At the end of the session, the participants will be able to:

  • Identify the challenges facing genetic clinics and diagnostic laboratories in the era of genomic medicine
  • Describe innovative strategies for efficient and effective use of human and technical resources to optimally diagnose genetic conditions in the Canadian Healthcare System.
  • Establish ways to strengthen relationships between genetic laboratories and clinics and build partnerships beyond the traditional boundaries of medical genetics.

Genetics and pathobiology of renal ciliopathies

Heleen Arts

Cilia appear and function as the antenna's of the cell. What happens if these organelles are defect in your kidneys? What if cilia dysfunction is not just limited to the kidney? What inheritance modes have been reported for renal ciliopathies? What do patients and their families wish for? What genetic features are important in molecular diagnostics for these disorders? I will highlight the cardinal clinical and molecular features of classic ciliary disorders ranging from isolated nephronophthisis to perinatal lethal syndromes such as Meckel-Gruber syndrome and short-rib thoracic dysplasias, which are often characterized by renal cystic dysplasia; you will be amazed by the enormous clinical and genetic heterogeneity that characterizes the renal ciliopathy spectrum. I will present some illustrative and challenging cases from my personal research experiences, and end this lecture with a brief discussion on therapeutic avenues.

At the end of the session, the participants will be able to:

  • Describe the structure of cilia and biology of cilia
  • Identify the clinical features of ciliopathies
  • Break down the molecular genetics of renal ciliopathies

Brain & Body Overgrowth: Genes, Pathways & Future Therapeutic Avenues
Ghayda Mirzaa  

At the end of the session, the participants will be able to:

  • Identify the molecular basis of human overgrowth syndromes
  • Examine the cellular pathways and functional defects underlying human overgrowth
  • Review future research opportunities including pre-clinic and clinical therapeutic avenues in human overgrowth syndromes

Therapeutic Drug Trials for Segmental Overgrowth: PIK3CA-Related Overgrowth Spectrum (PROS) and Proteus Syndrome

Kim Keppler-Noreuil

At the end of the session, the participants will be able to:

  • Describe the key clinical findings and associated complications of the somatic overgrowth disorders: PIK3CA-Related Overgrowth Spectrum and Proteus syndrome
  • Recognize the important role of key genes in the PI3K/AKT/mTOR signaling pathway, and mechanisms of pathogenesis
  • Describe the underlying molecular etiologies and potential therapeutic strategies for PIK3CA-Related Overgrowth
  • Spectrum and Proteus syndrome
  • Identify the application of different clinical trial designs and potential endpoints for approved and investigational new drugs for segmental overgrowth disorders

Genome-Wide DNA Methylation: A Functional Tool for Classifying Genomic Variants in Overgrowth Syndromes

Rosanna Weksberg

At the end of the session, the participants will be able to:

  • Describe epigenetic marks and their role in normal development and in the pathophysiology of overgrowth disorders
  • Delineate the range of human overgrowth syndromes caused by mutations in epigenetic regulators or epigenes
  • Describe how functional epigenetic studies can be used to classify genomic variants of unknown significance for overgrowth syndromes

The overgrowth-intellectual disability syndromes: deciphering the molecular basis and clinical characteristics

Katrina Tatton-Brown

At the end of the session, the participants will be able to:

  • Identify the key clinical characteristics that define an overgrowth-intellectual disability (OGID) syndrome
  • Identify the key OGID genes and their relative contributions to the OGID syndromes
  • Recognise the clinical features that help distinguish individual OGID syndromes
  • Identify the two key OGID gene families and their member genes

Genomics of Autism Spectrum- and Related- Disorders

Stephen W. Sherer, PhD, DSc. FRSC

At the end of the session, the participants will be able to:

  • Deliver an overview of state-of-the-art technologies to dissect the underlying genetic architecture in autism;
  • Discuss how risk genes involved in autism are also being found to be involved in other disorders with similar clinical features;
  • Present the latest research on how genomic discoveries from autism research are empowering the development of new diagnostics, and models for novel medicine development.

Presenters

Rick Guidotti

Rick Guidotti, an award-winning photographer, has spent the past twenty years collaborating internationally with advocacy organizations/NGOs,hospitals, medical schools, universities and other educational institutions to affect a sea-change in societal attitudes towards individuals living with genetic,physical, behavioral or intellectual difference; his work has been published in newspapers, magazines and journals as diverse as Elle, GQ, People, the American Journal of Medical Genetics, The Lancet, Spirituality and Health,the Washington Post, Atlantic Monthly and LIFE Magazine.

Rick is the founder and director of Positive Exposure, an innovative arts,education and advocacy organization. Positive Exposure utilizes the visual arts to significantly impact the fields of genetics, medical education, medicine,mental health and human rights, by providing new opportunities to see an individual living with a difference, first and foremost as a human being, rather than as a specific diagnosis or disease entity.

The Positive Exposure photographic exhibition premiered at the People’s Genome Celebration at the Smithsonian’s National Museum of Natural History in June 2001 and remains committed to exhibiting in galleries, museums and public arenas internationally. Positive Exposure continues to create and display ever-evolving community based exhibitions around the world. These collections of images, film and narratives celebrate the richness andbeauty of human diversity.Celebrating the beauty of genetic diversity.


TBD

Peter Harris

The Latest information about monogenic forms of polycystic kidney disease (PKD) wil be described.  This will cover genetic complexity of the dominant (ADPKD) and recessive forms (ARPKD).  The importance of allelic effects willillustrate with correlations between specific alleles and phenotypes.  Unusual examples of biallelic “ADPKD” and monoallelic “ARPKD” willillustrate genetic complexity.  While digenic diseases, including between ADPKD and ARPKD alleles will show farther complexity in these disorders, stressing the value of genetic diagnostics in infantile PDK.

At the end of the session, the participants will be able to:

  • Inform about the variety of genes associated with various forms of PKD.
  • Explain the importance of allelic effects in dominant and recessive forms of PKD.
  • Provide examples where diseases modifying loci can significantly worsten the disease outcome.