Agenda

Diagnosis, Research and Care for Rare Diseases: A Conference Overview

Break

Clinical Benefits And Limitations Of Newborn Screening

Day To Day Challenges We Face

Integrating Family History And Genomic Information Into Medical Care

Meeting Nutritional Needs

Advocacy Groups As Research Organizations

Should Newborns Be Screened For A Disorder If: I. The Value And/Or Necessity Of Treatment Is Uncertain? II: No Treatment Is Available?

Impact Of Our Diagnosis On Our Family

Integrating Natural History And Treatment History Knowledge Into Medical Care

Early Intervention Services: Physical, Occupational And Speech Therapies

Enrolling In Natural History Studies And Clinical Trials

Lunch

Whole Genome/Exome Sequencing For Diagnosis: Are We There Yet?

What Will Newborn Screening Look Like In 2020?

Psychosocial Needs of Young Adults

Optimizing Care: Lessons Learned

Sharing Family Data

Recruiting And Training Young Investigators: Program Directors' And Funders' Perspectives

Complexities Of Genome Analysis For Genetic Diagnosis

Importance Of Family Support Programs And Social Networks

Best Practices For Achieving Optimized Levels Of Care

Education And Artistic Expression

Recruiting And Training Young Investigators: Young Investigators; And Advocacy Organization's Perspectives

NIH And FDA Initiatives For New Therapies

Break

Carrier Screening: What To Screen For? What To Test For? When?

Navigating The Healthcare System; Having a Family-Centered Medical Home

Federal Programs For Children And Families; AND Impact Of Health Care Reform

Transition Between Pediatric And Adult Care; Insurance Coverage

Therapy Development, Lessons Learned. Part I. Clinical Trial Readiness, Trial Designs For Small Populations

The Undiagnosed Disease Program At NIH AND Will There Always Be A Diagnostic Odyssey?

Navigating The Transition To Adult Life

State And Local Programs For Children And Families

Life-Course Planning; Importance of the Health Care Team

Therapy Development, Lessons Learned. Part II: Novel Strategies And Relationships

Keynote Speaker: Jim Kelly, Hall of Fame Quarterback for the Buffalo Bills and Co-Founder of the Hunter's Hope Foundation

The Road Ahead

Ethical Concerns In Carrier And Newborn Screening

Ask The Experts: Physician, Genetic Counselor And Education Advocate

Ask The Experts: Federal And State Programs

Therapeutic Advances: Molecular Approaches

Ask The Experts: Researchers, Caregivers And Clinicians

Therapeutic Advances: Cellular Approaches

Orphan Drug Act And Other Federal And State Legislative Issues And Opportunities