eGNA Case Conference

eGNA Case Conference

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eGNA
What is eGNA?

eGNA (electronic Genetic Nutrition Academy) is a free, web based system of educational modules providing evidence-based knowledge about nutrition management for inherited metabolic disorders.

Intended Audience Genetic metabolic dietitians and other clinicians
2018-2021 eGNA Theme
All Metabolic Disorders
Registration Register for upcoming sessions here.
eGNA Library and Conference Center (LCC)
Sample Course Materials

Medical Commentary from eGNA Session 6 with Elizabeth Krupinski, PhD. The session topic was Telemedicine.

eGNA Case Conference and Journal Club Schedule
Session 15
Tyrosinemia Type I (HT‐1)

Session 15 Course Flyer

Journal Club
Article: Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations
Presenter: Jessica R. C. Priestley, MD, PhD (Medical Biochemical Genetics Fellow, Children’s Hospital of Philadelphia (CHOP))
Date and Time: Friday, October 7, 2022 at 12p EDT

Case Conference
Topic: Tyrosinemia Type I (HT‐1)
Date and Time: Friday, October 14, 2022 at 12pm EDT

Presenters:
Christi Hall, MS, RD, CSP, LDN
Metabolic Dietitian
UNC Healthcare/UNC School of Medicine
Division of Pediatric Genetics and Metabolism

Emily F. Ramsey, MPH, RD
Metabolic Dietitian
UNC Healthcare/UNC School of Medicine
Division of Pediatric Genetics and Metabolism

Medical Commentary
Title: Tyrosinemia Type I (HT‐1)
Presenter: Jeffrey M. Chinsky, MD, PhD, FAAP, FACMG (Johns Hopkins University)
Available: October 3, 2022

Recruiting Journal Club Faculty: Contact Us

Registered Attendees

Registered attendees may access course materials here:
eGNA Library and Conference Center (LCC)

Session 14
Palynziq and Maternal PKU

Session 14 Course Flyer

Journal Club
Article: Maternal phenylketonuria syndrome: studies in mice suggest a potential approach to a continuing problem
Presenter: Markey McNutt II, MD, PhD (Internal Medicine, Clinical Genetics at UT Southwestern Medical Center)
Date and Time: Friday, February 25, 2022 at 12p EDT

Case Conference
Topic: Palynziq and Maternal PKU
Date and Time: Friday, March 4, 2022at 12pm EDT

Presenters:
Brittan Bibb, MS, RD, LD
Registered Dietitian
PEDS Genetics and Metabolism
Department of Pediatrics

Angela Crutcher, APRN
Nurse Practitioner
Division of Genetics and Metabolism
Kentucky Children’s Hospital
Department of Pediatrics

Erin Freeman, RD, LD
Registered Dietitian
Division of Genetics and Metabolism
University of Kentucky

Miriam Bunch, MS, LGC
Senior Genetic Counselor
Division of Genetics and Metabolism
Department of Pediatrics
University of Kentucky

Medical Commentary
Title: Palynziq and Maternal PKU
Presenter: Gabriella Pridjian, MD, MBA (Tulane University)
Available: February 25, 2022

Recruiting Journal Club Faculty: Contact Us

Registered Attendees

Registered attendees may access course materials here:
eGNA Library and Conference Center (LCC)

Session 13
Methylmalonic acidemia (MMA)

Session 13 Course Flyer

Journal Club
Article: 1- 13 C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA)
Presenter: Ryan Peretz, MD (NIH Medical Biochemical Genetics Fellow; Clinical Geneticist Pediatrician, A Diplomate of the American Board of Pediatrics)
Date and Time: Wednesday October 6, 2021 at 7pm EDT

Case Conference
Topic: Methylmalonic acidemia (MMA)
Presenter:
Katie Draper, MS, RDN, LD (Clinical Research Dietitian Emory University)
Date and Time: Wednesday October 13, 2021 at 12pm EDT

Medical Commentary
Title: Methylmalonic acidemia (MMA)
Presenter: Charles Venditti, MD, PhD (National Institutes of Health)
Available: October 6, 2021

Recruiting Journal Club Faculty: Contact Us

Registered Attendees

Registered attendees may access course materials here:
eGNA Library and Conference Center (LCC)

Session 12
Maple Syrup Urine Disease (MSUD)

Session 12 Course Flyer

Case Conference: March 10, 2021
Journal Club: October 9, 2020

Registered Attendees

Registered attendees may access this session here:
eGNA Library and Conference Center (LCC)

Session 11
Glycogen Storage Disease(GSD) and Continuous Glucose Monitoring

Session 11 Course Flyer

Case Conference: October 16, 2020
Journal Club: October 9, 2020

Registered Attendees

Registered attendees may access this session here:
eGNA Library and Conference Center (LCC)

Special Session
A Taste of eGNA: Now Expanding with Project ECHO Confirmation

Date and Time: April 29, 2020

Note: this session is not available in the eGNA LCC

Session 10
Palynziq and PKU

Session 10 Course Flyer

Case Conference: Feb 12, 2020
Journal Club: Jan 31, 2020

Registered Attendees

Registered attendees may access this session here:
eGNA Library and Conference Center (LCC)

Session 9
Propionic Acidemia (PROP)

Session 9 Course Flyer

Case Conference: Oct 2, 2019
Journal Club: Oct 11, 2019

Registered Attendees

Registered attendees may access this session here:
eGNA Library and Conference Center (LCC)

Session 8
Hereditary Fructose Intolerance (HFI)
Journal Club: May 3, 2019
Case Conference: May 8, 2019
Registered Attendees

Registered attendees may access this session here:
eGNA Library and Conference Center (LCC)

Session 7
Very long-chain acyl-COA dehydrogenase (VLCAD) deficiency
Journal Club: February 8, 2019
Case Conference: February 13, 2019
Registered Attendees

Registered attendees may access this session here:
eGNA Library and Conference Center (LCC)

Session 6
Managing Metabolic Disorders via Telemedicine
Journal Club: October 3, 2018, 12 pm EDT
Case Conference: October 12, 2018, 12 pm EDT
Registered Attendees

Registered attendees may access this session here:
eGNA Library and Conference Center (LCC)

Session 5
Maternal PKU with GMP
Journal Club: May 4, 2018
Case Conference: May 16, 2018
Registered Attendees

Registered attendees may access this session here:
eGNA Library and Conference Center (LCC)

Session 4
Evidence Analysis Workshop: How to Critique Publications to Improve Patient Outcomes
Evidence Analysis Training: February 7, 2018
Evidence Analysis Interactive Review: February 14, 2018
Registered Attendees

Registered attendees may access this session here:
eGNA Library and Conference Center (LCC)

2017 Theme
Urea Cycle Disorders
Session 3
Ornithine Transcarbamylase Deficiency (OTC)
Case Conference: October 4, 2017
Journal Club: October 4 - November 4, 2017
Session 2
ASL Deficiency
Case Conference: June 7, 2017
Journal Club: June 7-July 5, 2017
eGNA Library: Coming Soon
Session 1
ARG I Deficiency
Case Conference: February 1, 2017
Journal Club: February 1 - March 1, 2017
eGNA Library: Coming Soon
Course Director Rani H. Singh, PhD, RD, LD
Contact Education Coordinator Rosalynn Borlaza Blair, MA rborlaz@emory.edu

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