The Association of Clinical Research Professionals

Webinar Replay: Significant Strides in Rare Diseases Through Personalized Medicine

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This course is approved for 1.0 ACRP contact hours. Accreditation Details

Webinar Replay expires August 30, 2018.

Pricing Without Contact Hours

Member: $0 | Nonmember: N/A

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Webinar Replay expires August 30, 2018.

A single rare genetic disease affects very few individuals, but collectively, these diseases affect millions worldwide, yet we currently unable to identify the cause or effectively treat a majority of individuals with suspected rare genetic disease. This session focuses on research efforts to identify the genetic cause of disease in individuals where a genetic diagnosis has been elusive with traditional strategies and the potential benefits to the patients and families. The learner will gain an understanding of the challenges to the study of rare genetic disease and see examples of the collaborative and multidisciplinary research advancing this field.

Upon completion of this Webinar Replay, attendees should be able to:

  1. Define personalized medicine and describe its use in rare genetic disease.
  2. State the potential benefits to identifying the genetic cause of disease in an individual suspected of having a rare genetic condition.
  3. Describe the types of research advancing personalized medicine for rare genetic disease and the challenges.

Speaker Dr. Margot A. Cousin is a Research Fellow in the Center for Individualized Medicine at Mayo Clinic. Margot received her bachelor’s degree from Northern Michigan University in Diagnostic Genetics and first came to Mayo Clinic at a Clinical Cytogenetic Technologist. Margot received her PhD in Clinical and Translational Science from Mayo Graduate School in 2015 where she studied the genetic underpinnings and potential novel treatments of nicotine and ethanol dependence using a zebrafish model. joined the Center for Individualized Medicine at Mayo Clinic where she works with a team of researchers and clinicians to identify the genetic alterations causing disease in patients with suspected Mendelian disease.