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7th Annual Rare Disease Day Symposium

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Add to Calendar 7th Annual Rare Disease Day Symposium 2/21/2020 8:00:00 AM 2/21/2020 3:30:00 PM America/Chicago For More Details: https://childrensal.cloud-cme.com/course/courseoverview?EID=3723 Description: With rare diseases being common in primary care, an avenue is needed for professionals to achieve the same confidence in treating patients with co-morbid rare diseases that they have when treating the general population. Rare disease knowledge and awareness are the lowest among primary care physicians and highest among specialists. The Bradley Lecture Center false MM/DD/YYYY


Date & Location
Friday, February 21, 2020, 8:00 AM - 3:30 PM, The Bradley Lecture Center

Target Audience
Specialties - Community Pediatrics, General Pediatrics, Genetics, Other, Primary Care Physicians, RN, CRNP

Overview
With rare diseases being common in primary care, an avenue is needed for professionals to achieve the same confidence in treating patients with co-morbid rare diseases that they have when treating the general population.  Rare disease knowledge and awareness are the lowest among primary care physicians and highest among specialists.

Objectives
Upon completion of this live activity, participants will be able to:

  1. Summarize the latest genomic discoveries and technology innovations driving rare disease research and precision medicine.
  2. Discuss approaches for applying genomics and bioinformatics to rare disease molecular diagnosis.
  3. Identify key barriers to connecting patients and providers with genetic counselors and keeping them engaged.
  4. Review deep phenotyping software for clinical genetics evaluation.
  5. Discuss practical strategies for integrating software into clinic.
  6. Review emerging trends how deep learning and bioinformatics strategies can be combined to bring new hopes for devising cost-effective solutions to treat rare human genetic disorders.
  7. Discuss how AI can help with therapeutic identification in precision medicine.

Accreditation

Children's of Alabama designates this Live Activity for a maximum of 5.25 AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Children’s of Alabama is accredited by the Medical Association of the State of Alabama to provide continuing medical education for physicians.


Credits
AMA PRA Category 1 Credits™ (5.25 hours), Non-Physician Attendance (5.25 hours)

Jake Chen, PhD
Professor
UAB
Vestavia, AL
Meagan Farmer, MBA
Genetic Counselor
UAB
Irondale, AL
Melissa Haendel, PhD
AL
Anna C Hurst, MD, FACMG
Univeristy of Alabama at Birmingham
Birmingham, AL
Bruce Korf, MD
University of Alabama at Birmingham
Birmingham, AL
Brittany N Lasseigne, PhD
Assistant Professor
UAB SOM
Birmingham, AL
Matthew Might, PhD
UAB
Mountain Brook, AL

Friday, February 21, 2020

Registration and Breakfast
8:00AM - 8:30AM
Genome-guided Rare Disease Molecular Diagnosis and Drug Prioritization
8:30AM - 9:15AM
Brittany N Lasseigne, PhD
Bradley Lecture Center
Integration of Facial Analysis Software in Genetics Clinic
9:15AM - 9:45AM
Anna C Hurst, MD, FACMG
Bradley Lecture Center
Leveraging Technology to Increase Genetic Counseling Access and Engagement
9:45AM - 10:30AM
Meagan Farmer, MBA
Break
10:30AM - 10:45AM
Bradley Lecture Center
Computable Phenotyping for Diagnostics and Discovery
10:45AM - 11:45AM
Melissa Haendel, PhD
Bradley Lecture Center
Break/Pick up lunch
11:45AM - 12:00PM
Bradley Lecture Center
Lunch
12:00PM - 1:00PM
Bradley Lecture Center
Interpretation of Molecular Variation in Rare Disorders
1:00PM - 1:45PM
Bruce Korf, MD
Bradley Lecture Center
Artificial Intelligence in Precision Medicine
1:45PM - 2:30PM
Matthew Might, PhD
Bradley Lecture Center
AI for Rare Disease Drug Repositioning
2:30PM - 3:15PM
Jake Chen, PhD
Bradley Lecture Center
Q and A and Wrap Up
3:15PM - 3:30PM
Bradley Lecture Center

There is no Commercial Support associated with this activity. 

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