Course : 48th Annual March of Dimes Clinical Genetics Conference
Held during the 2017 ACMG Annual Clinical Genetics Meeting in Phoenix, Arizona. Click “Launch” for more information.
EDUCATIONAL CREDITS ARE NOT AVAILABLE
The Undiagnosed Diseases Network (UDN) is a recently constituted multi-institution collaborative network designed to help patients who have rare, previously undiagnosed diseases. In addition to facilitating diagnosis and management for patients and their families, the network has a broader goal to create a new, more effective paradigm for rare disease diagnosis and research. Some of the important objectives of the network are to expand the breadth of expert collaborators, to determine best practices for translating this work into geographically diverse mainstream clinical centers, and to share resulting data and approaches throughout the scientific community. This course will describe lessons learned in, a) setting up a collaborative network which has clinical as well as research functions, b) evaluation of pediatric patients in the network, c) evaluation of adult patients in the network, d) patient engagement in the network activities and e) organizing clinical laboratory cores to optimize molecular diagnosis.
Rare and yet-to-be-described disorders are a difficult problem for patients, their families and their physicians. The NIH Office of Rare Diseases Research notes that about 6% of patients seeking their assistance have an undiagnosed disease. For those who were ultimately diagnosed, as many as 15% had persistent symptoms without diagnosis for at least 5 years, a difficult and costly delay for patient, family, and physicians who struggle to identify and treat these disorders.
The various network components will work together to advance laboratory and clinical research by enhancing the coordination and collaboration between the bedside and bench across multiple centers by sharing broadly resulting data and approaches widely throughout the scientific community. The large number of unique patients, the breadth of the expertise in the network, and the highly collaborative nature of the UDN represents a signal opportunity to accelerate discovery about health and disease at scale, while challenging the traditional divide between clinical and research activities.
Attendees will benefit from learning about the logistics underpinning of the network and how to utilize the many tools and resources developed by the network in their own practice
All healthcare professionals interested in the diagnosis, management, treatment and prevention of genetic conditions and increasing their understanding of the genetic basis of common, chronic health problems affecting both children and adults will find the programming applicable to their practice. These select sessions from the ACMG Annual Meeting are targeted for the following professionals:
• Medical and clinical geneticists
• Physicians of all specialties with an interest in genetics, genomics and the genetic basis of disease
• Genetic counselors
• Laboratory geneticists, directors, technicians and technologists
• Physician assistants
• Biotechnology and pharmaceutical development professionals
• Fellows, Trainees and Students
• Public health professionals
• Genetic/consumer advocates
• Others with an interest in the science and art of medical genetics and genomics
Course information without Educational Credit Please Click Here
Registration and Fees
Course only – No educational credits
ACMG Members and ACMG Trainees: ($20)
At the conclusion of this course, participants should be able to:
1. Explain how collaborative networks function and how that knowledge is leveraged provide better patient care
2. Describe how UDN is using new phenotyping and sequence analyses tools for improved diagnosis and downstream translational research
3. Describe how the UDN is engaging patients in this mission
4. Explain how to proceed forward when and N=1 diagnosis is reached
5. Utilize the many tools and resources developed by the network in their own practice