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Welcome to the Virtual Event

Welcome to the Sixth Annual Frontiers in Pediatric Genomic Medicine conference presented by Rady Children’s Institute for Genomic Medicine. We have a content-rich agenda featuring leaders in Rapid Precision Medicine™ from children’s hospitals and research centers around the world. You’ll hear about their innovations, case studies and lessons on how multi-state genomic alliances are transforming patient care. You won’t want to miss the sessions with patient parents. For additional learning and networking, visit the Exhibit Hall and Poster Sessions. And drop into the Lounge to chat with presenters and other attendees. There’s a lot to do. Enjoy!

This year’s program will focus on The Impact of Rapid Precision Medicine™ for patients, clinicians and families.

  • Day 1: The impact of Rapid Precision Medicine™ (RPM®) in clinical practice
  • Day 2: Research findings on the impact of RPM®
  • Day 3: How RPM® improves the patient family experience

The University of California San Diego School of Medicine is the accredited provider.

Accreditation Statement:

The University of California San Diego School of Medicine is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians.

Disclosure statement:

It is the policy of the University of California San Diego School of Medicine to ensure balance, independence, objectivity and scientific rigor. All persons involved in the selection, development and presentation of content are required to disclose any real or apparent conflicts of interest. All conflicts of interest will be resolved prior to an educational activity being delivered to learners through one of the following mechanisms 1) altering the financial relationship with the commercial interest, 2) altering the individual’s control over CME content about the products or services of the commercial interest, and/or 3) validating the activity content through independent peer review. All persons are also required to disclose any discussions of off label/unapproved uses of drugs or devices. Persons who refuse or fail to disclose will be disqualified from participating in the CME activity.

Agenda

Wednesday, April 21, 2021

8:00 am

Welcome

Stephen Kingsmore, MD, DSc
President & CEO, RCIGM

8:00 am

A Fireside vChat: Transforming Lives with Rapid Precision Medicine™

Stephen Kingsmore, MD, DSc
President & CEO, RCIGM

Eric Topol, MD

Founder & Director, Scripps Research Translational Institute; Executive VP, Scripps Research; Professor of Molecular Medicine, Scripps Research; Gary & Mary West Endowed Chair of Innovative Medicine, Scripps Research

9:00 am

13.5 Hour Automated Diagnosis and Clinical Decision Support of Genetic Diseases by Whole Genome Sequencing

Mallory Owen, MD
Postdoctoral Fellow, RCIGM

9:30 am

Closing the Evidence-to-Practice Gap in Rapid Whole Genome Sequencing

Linda Franck, RN, PhD, FAAN
Professor, Department of Family Health Care Nursing, UC San Francisco

10:00 am

BREAK – Exhibit Hall Open

10:30 am

Advancing Scientific Approaches Through Administrative Data
Genomic Determinants of Infant Death in a Retrospective Cohort from San Diego County

Gretchen Bandoli, PhD
Assistant Professor, Pediatrics, UC San Diego

Mallory Owen, MD
Postdoctoral Fellow, RCIGM

11:00 am

Payors’ Perspective of RPM®: A Panel Discussion

Facilitated by
Russell Nofsinger, PhD
Senior Director of Business Development, RCIGM

Bruce Quinn, MD, PhD, MBA
Principal, Bruce Quinn Associates LLC

Jennifer Malin, MD, PhD
Senior Medical Director, Oncology and Genetics, United Healthcare

Robert Plass, MD, MMM
Medical Director Policy and Technology Assessment, Blue Shield of California

James Uli
Senior Vice President and Chief Financial Officer, Rady Children’s Hospital-San Diego

11:45 am

Day One Insights

Stephen Kingsmore, MD, DSc
President & CEO, RCIGM

12:00 - 1:00 pm
  1. Successful utilization of prenatal samples for diagnostic whole genome sequencing (WGS) in a case of recurrent pregnancy loss.
  2. Whole-genome sequencing identifies novel variants in MCM6 in siblings with Meier-Gorlin Syndrome phenotype.
  3. Building the Foundation of a Precision Genomic Medicine Clinic for Rare and Undiagnosed Disorders at Rady Children’s Hospital
  4. Rapid whole genome sequencing in the NICU: Lessons from a pilot study

Facilitated by Cody Sargent, MSc
Clinical Research Associate, RCIGM

12:00 - 1:00 pm

Exhibit Halls Open

Thursday, April 22, 2021

8:00 am

Exhibit Halls Open

8:00 am

Illumina Presentation (Non-CME)

9:00 am

Clinical Aspects of the Wales Infants’ and Children’s Genome Service for Unwell Children

Oliver Murch, BSc, MRes, PhD, MBBCh
Clinical Geneticist, All Wales Medical Genomics Service, University of Wales, Cardiff, UK

9:30 am

Developing the Infrastructure to Deliver Rapid Whole Genome Sequencing

Sian Corrin, PhD, FRCPath
Clinical Scientist and Deputy Head, Institute of Laboratory, NHS Wales, All Wales Medical Genomics Service, University of Wales, UK

10:00 am

BREAK – Exhibit Hall Open

10:30 am

The Hopes and Challenges of Integrating Genomic Testing Platforms into Newborn Care

Jill Maron, MD, MPH
Executive Director, Mother Infant Research Institute at Tufts Medical Center; Vice Chair of Pediatric Research, Tufts Children’s Hospital; Professor of Pediatrics Adjunct Professor of Obstetrics and Gynecology, Tufts University School of Medicine

11:00 am

Personalized Genomic Therapy in the Era of Antisense Oligonucleotides

Joseph Gleeson, MD, PhD
Director of Neuroscience Research, RCIGM and Professor of Neuroscience and Pediatrics, UC San Diego School of Medicine

11:30 am

RNA-seq for Rare Disease Diagnosis Overcomes Limitation of Conventional Genomic Testing

David Murdock, MD, FACMG
Assistant Professor, Molecular and Human Genetics, and Assistant Director Human Genome Sequencing Center Clinical Laboratory, Baylor College of Medicine

12:00 pm

Day Two Insights

Stephen Kingsmore, MD, DSc
President & CEO, RCIGM

12:05 – 1:00 pm

Selected Scientific Poster Presentations:

  1. Identifying deleterious variants of overgrowth syndromes related genes in pediatric brain tumor patients’ genomes
  2. Whole genome sequencing in patients with Kabuki and CHARGE syndromes
  3. WINGS – Wales Infants and Children’s Genome Service. Rapid and accurate clinical analysis of variants from Whole Genome Sequencing assays using a user- friendly web application.
  4. Identification of a novel FOXF1 gene variant by rapid whole genome sequencing: support for aggressive care of atypical alveolar capillary dysplasia
  5. Rapid whole genome sequencing in the pediatric intensive care unit is cost-effective

Facilitated by Cody Sargent, MSc
Clinical Research Associate, RCIGM

12:00 - 1:00 pm

Exhibit Halls Open

Friday, April 23, 2021

8:00 am

Exhibit Halls Open

8:00 am

Bringing Novel Therapies to Market for Rare Diseases (Non-CME)

Dorothee Diogo, PhD
Director of Statistical Genetics, Takeda Pharmaceuticals Company

9:00 am

RCIGM Patient Case

Shimul Chowdhury, PhD, FACMG, CGMB
Senior Director, Operations RCIGM

9:30 am

Genetic Sequencing for SCID: Linking Newborn Screening and Rapid Precision Therapy

Lori Broderick, MD, PhD
Immunologist, Rady Children’s Hospital-San Diego and Assistant Professor, Pediatrics and Allergy/Immunology, UC San Diego

Shimul Chowdhury, PhD, FACMG, CGMB
VP of Laboratory Operations, BlueStar Genomics

Patient Family

10:00 am

BREAK – Exhibit Hall Open

10:30 am

Universal Screening for Genetic Cancer Predispositions in Pediatric Oncology

Dennis Kuo, MD, MS
Hematologist/Oncologist, Rady Children’s Hospital-San Diego and Clinical Professor, Pediatrics, UC San Diego

Sapna Mehta
Clinical Researcher, Rady Children’s Hospital-San Diego

11:00 am

Parental Perceptions of Genomic Research in the Neonatal Intensive Care Setting

Julie Cakici, RN
Researcher, Family Medicine and Public Health, UC San Diego; RCIGM; San Diego State University, School of Public Health

11:30 am

Caregiver Experiences of Rapid Precision Medicine

A Panel Discussion facilitated by
Jerica Lenberg, MS, LCGC,
Licensed Certified Genetic Counselor, RCIGM

Four patient families invited by the
RPM® Family Partnership Program

12:00 - 12:30 pm

Virtual Q&A and Conference Wrap Up

Stephen Kingsmore, MD, DSc
President & CEO, RCIGM

Frequently Asked Questions

Yes, you will need to register HERE by noon, 20 April to attend the live event and access the recordings.
This is an online event. You can participate anywhere that you have Internet access. The event is accessible from desktop, mobile and tablet devices. You do not need to download or install any software to participate in the event. You only need to have access to the Internet.
Yes, click here (insert link) for access to the Pre Conference.
Google Chrome, Safari, Firefox, and Edge.
Your login details will be emailed to you ahead of the event.
Yes, click here to download the Detailed Navigation Guide
Yes. Similar to a “cart”, you will be able to add documents to your “Swag Bag” and then email them to yourself.
The presentations will be recorded and available to watch after the live events conclude until the 23rd June 2021, but you must register HERE for the event and you’ll be sent a link to access the sessions after the event.
Yes. At each exhibition booth you can Live Chat with a representative from that company. You can also submit questions during each presentation to be addressed during the Q & A following.