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Hereditary transthyretin amyloidosis and other neuromuscular diseases

Neurology

Date:
Saturday, Jun 19, 2021 12:00am – 12:00pm

Conference:
EAN 2021

Authors:
Meghan Towne, Sami Khella, Urvi Desai, Arvind Narayana, Kemi Olugemo

Collaborators:

Akcea Therapeutics
University of Pennsylvania

Abstract
Characteristics of patients with p.V50M and p.T80A mutations associated with hereditary transthyretin amyloidosis

Neurology

Date:
Saturday, Jun 19, 2021 12:00am – 12:00pm

Conference:
EAN 2021

Authors:
Morie Gertz, Meghan Towne, Sami Khella, Diego Delgado, Arvind Narayana, Kemi Olugemo

Collaborators:

Akcea Therapeutics
Mayo Clinic
University Health Network
University of Pennsylvania

Abstract
Ordering trends and report outcomes for lipid genes on a comprehensive cardiovascular genetics menu

Cardiology

Date:
Friday, Jun 4, 2021 12:00am – 12:00pm

Conference:
NLA 2021

Authors:
Meghan Towne, Melissa Holman, Catherine Schultz, Tami Johnston

Abstract
RNA studies demonstrate that the LDLR c.2389+4A>G intronic variant causes familial hypercholesterolemia through an RNA splicing impact

Cardiology

Date:
Friday, Jun 4, 2021 12:00am – 12:00pm

Conference:
NLA 2021

Authors:
Nelly Abualkheir, Rachid Karam, PhD, Heather L. Zimmermann, Anthony Morise, Jesus Ramirez Castano, Christina Bridges, Ginger J. Tsai, Amybeth Weaver

Abstract
Closing the gap: Trends in inconclusive rates in hereditary cancer testing across racial/ethnic groups

Oncology

Session:
#10525

Date:
Friday, Jun 4, 2021 12:00am – 12:00pm

Conference:
ASCO 2021

Authors:
Carrie Horton, Holly Laduca, Timothy Komala, Jessica Profato, Tina Pesaran, MA, MS, CGC, Fergus Couch, Foluso Olabisi Ademuyiwa

Collaborators:

Mayo Clinic
Washington University School of Medicine, St. Louis Children’s Hospital

Abstract Poster
Clinical and epidemiological characteristics of patients with ttr mutations and polyneuropathy manifestations of hereditary transthyretin amyloidosis: Insights from a genetic testing program

Neurology

Date:
Saturday, Apr 17, 2021 7:00am – 5:00pm

Conference:
AAN 2021

Authors:
John Jeffries, Sami Khella, Keyur Shah, Diego Delgado, Catherine Marti, Andrew Keller, Jill Dolinksy, Aaron Gabriel, Arvind Narayana, Kemi Olugemo

Collaborators:

Piedmont Healthcare Inc
University of Pennsylvania
VCU Medical Center

Abstract
Multi-gene panel testing results prompt frequent and guideline adherent changes to cancer risk management recommendations based on clinician report

General
Oncology

Date:
Tuesday, Apr 13, 2021 12:00am – 12:00pm

Conference:
ACMG 2021

Authors:
Holly Laduca, Virginia Speare, Allison Kurian, Carolyn Horton, Kristen Blanco, Min-Tzu Lo, Jill Dolinksy

Poster Abstract
Broad implications of sustained, proactive clinical validity curation

General

Date:
Tuesday, Apr 13, 2021 12:00am – 12:00pm

Conference:
ACMG 2021

Authors:
Bess Wayburn, Kelly Radtke, Deepali N. Shinde, Haley Keller, Meghan C. Towne, Anant Babtiwale, Devon L. Thrush, Kelly D. Farwell Hagman

Poster Abstract
Universal multi-gene panel testing for individuals with pheochromocytomas and paragangliomas

General

Date:
Tuesday, Apr 13, 2021 12:00am – 12:00pm

Conference:
ACMG 2021

Authors:
Carrie Horton, Michelle Jackson, Marcy E. Richardson, Holly Laduca, Kory Jasperson, Amal Yussuf, Kate Durda, Yuan Tian, Tobias Else, Ashley Deckman

Collaborators:

University of Michigan Medical School

Abstract Poster
Divergent payor medical policy leads to gross disparities in access to hereditary breast and ovarian cancer genetic testing

Oncology

Date:
Tuesday, Apr 13, 2021 12:00am – 12:00pm

Conference:
ACMG 2021

Authors:
Robert Pilarski, Stephanie Gutierrez, Stephanie Gandomi, Holly Laduca, Lily Hoang, Randy Hew, Jill Dolinksy

Abstract Poster

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Hereditary transthyretin amyloidosis and other neuromuscular diseases

Characteristics of patients with p.V50M and p.T80A mutations associated with hereditary transthyretin amyloidosis

Ordering trends and report outcomes for lipid genes on a comprehensive cardiovascular genetics menu

RNA studies demonstrate that the LDLR c.2389+4A>G intronic variant causes familial hypercholesterolemia through an RNA splicing impact

Closing the gap: Trends in inconclusive rates in hereditary cancer testing across racial/ethnic groups

Clinical and epidemiological characteristics of patients with ttr mutations and polyneuropathy manifestations of hereditary transthyretin amyloidosis: Insights from a genetic testing program

Multi-gene panel testing results prompt frequent and guideline adherent changes to cancer risk management recommendations based on clinician report

Broad implications of sustained, proactive clinical validity curation

Universal multi-gene panel testing for individuals with pheochromocytomas and paragangliomas

Divergent payor medical policy leads to gross disparities in access to hereditary breast and ovarian cancer genetic testing

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