Genetic Resources

Find a Clinic – Mountain States Genetics

Children’s Hospital Colorado – Anschutz Medical Campus

13123 East 16th Ave., Aurora, CO 80045
Main Hospital: 720-777-1234
Genetics and Inherited Metabolic Diseases: 303-724-2370
Special Care Clinic: 720-777-6739
Developmental Pediatrics: 720-777-6630

National Coordinating Center for the Regional Genetics Networks

Resource Repository (ReRe) – National Coordinating Center for the Regional Genetics Network (nccrcg.org)

National Genetics Education and Family Support Center

Genetic and Rare Diseases Information Center

OMIM – Online Mendelian Inheritance in Man

NCBI- Gene Reviews: Basic Search

NCBI- Gene Reviews: Advanced Search

GeneCards – Human Gene Database

Baby’s First Test

Screening Technologies and Research in Genetics (STAR-G)

MedlinePlus: Genetics

Home – NIH Genetic Testing Registry (GTR) – NCBI

Help Me Understand Genetics: MedlinePlus Genetics

Genomic and Genetic Glossary

Rare Disease Network

Undiagnosed Diagnosed Disease Network (UDN)

Deaf & Hard of Hearing Questions for Geneticist

Disease Info Search  

Genomics Education Websites (genome.gov)

NORD- Rare Disease Database 

PBS- Learning Media: The Gene

National Coordinating Center for the Regional Genetics Networks

Regional Genetics Networks

Gene in a Box

Time 4 Genetics Clinics

Main Algorithm Document: Developmental Delay 

Supporting Developmental Delay Documents for Providers 

Supporting Developmental Delay Documents for Families 

Main Algorithm Document: Ehlers Danlos Syndrome (EDS) 

Supporting EDS Documents for Families

Journey Through Diagnosis

Gemms- Genetic Education Materials for School Success

Genetic Testing Toolkit

Pediatric Red Flags ENGLISH (nymacgenetics.org)

Pediatric Red Flags SPANISH (nymacgenetics.org)

Receiving a Diagnosis: The Journey From Cope to Hope

Challenges in Interpretation & Explanation of Exome Sequencing | Southeast Regional Genetics Network (SERN) (southeastgenetics.org)

MSRGN Colorado State Team Page

National Organization for Rare Disorders (NORD) – Colorado

Pediatric Red Flags ENGLISH (nymacgenetics.org)

Pediatric Red Flags SPANISH (nymacgenetics.org)

NYMAC – When to Refer Red Flags – PEDS 

Red Flags Mneumonic for providers

Genetic Testing FAQ (genome.gov)

GENETIKIT Genetic Testing Consequences

Genetic Testing Toolkit

Challenges in Interpretation & Explanation of Exome Sequencing | Southeast Regional Genetics Network (SERN) (southeastgenetics.org)

Home – NIH Genetic Testing Registry (GTR) – NCBI

Testing for Genetic Conditions | Genes in Life

Time 4 Genetics Library

GECKO- Point of Care 

GECKO- Point of Care: Family History Form

GENETIKIT Pearls

GENETIKIT Genetic Testing Consequences

GENETIKIT Family History Tool

Red Flags Mneumonic for providers

TREATABLE ID – an interactive tool for the clinician

Genetic Testing Toolkit

Genomics Education Websites (genome.gov)

American College of Medical Genetics and Genomics

National Society of Genetic Counselors 

Patient Assistance Programs, Medication Specific Assistance Programs – NORD (National Organization for Rare Disorders) (rarediseases.org) (not sure this needs to be listed twice?)

National Organization For Rare Disorders (NORD)

Global Genes 

EveryLife Foundation for Rare Diseases

Family Voices

Genetic Alliance

Save Babies Through Screening Foundation

Rare Disease Day 

MyGene2 Family Outreach

RareConnect

DNAandU Outreach Tool

Global Genes Gene-Based Diagnosis 101 Guide (not sure these need listed since group is already represented above)

NORD Genetic Testing 101 (not sure these need listed since group is already represented above)

Open Treatments – Enabling treatments for rare diseases

n-Lorem – Patient Empowerment 

Global Genes Guide to Gene Therapy (not sure these need listed since group is already represented above)

RARE University Global Genes (not sure these need listed since group is already represented above)

Matchmaker Exchange

GeneMatcher

Our Mission — Little Miss Hannah Foundation

Care-for-Rare America Inc.

Parents of Undiagnosed Children | Facebook

Home – ClinicalTrials.gov

NIH Clinical Research Trials

RePORT ⟩ RePORTER (nih.gov)

Rare Diseases Clinical Research Network (RDCRN) | National Center for Advancing Translational Sciences (nih.gov)

GWAS Catalog (ebi.ac.uk)

Coriell Institute for Medical Research ( NIGMS Human Genetic Cell Repository)

International Mouse Phenotyping Consortium

TREATABLE ID – an interactive tool for the clinician

Broad Institute

Rare Genomes Project

DECIPHER v11.11: Mapping the clinical genome (deciphergenomics.org)

Wellcome Sanger Institute

Insurance and Medicaid – Complex Child

Medical Home Portal – Appealing Funding Denials

Health Insurance – HealthyChildren.org

Consumer Complaints Toolkit: Health Insurance Resources for Health Advocates, Health Providers and Enrollment Assisters | Community Catalyst

Health Care Reform | Center for Advancing Health Policy and Practice (ciswh.org)

National Association of Special Education Teachers: Genetics in Special Education Series (naset.org)

Partnering with your Doctor – The Medical Home Approach ENGLISH

Partnering with your Doctor – The Medical Home Approach SPANISH

Medical Home- Home (aap.org)

Becoming an Adult: Deciding Where to Live (Youtube Video)

Becoming an Adult: Legal and Financial Planning (Youtube Video)

Becoming an Adult: What Can I Do After High School? (Youtube Video)

Becoming an Adult: Taking Responsibility for Your Medical Care (Youtube Video)

Care Coordination: The Family Perspective (Youtube Video)

Journey Through Diagnosis Guide

VIDEO on Your Genetics Appointment

VIDEO on Receiving A Diagnosis: The Journey from Cope to Hope from the Midwest Regional Genetics Network

Family Friendly Referral Guide

AAP’s Developmental Surveillance and Screening

About the UDN

Tips for the Undiagnosed

Syndromes Without A Name (SWAN)

Rare and Undiagnosed (RUN)

Deaf Community- How to Collect Family Health History: What’s Important?

CDC resources on family health history

Knowing is Not Enough—Act on Your Family Health History | CDC

Genetics Home Reference: Your Guide to Understanding Genetic Conditions

Help Me Understand Genetics

NHGRI’s Online Genetics Education Resources

Description of Genetic Services in English (PDF)

Description of Genetic Services in Spanish (PDF)

Genetic Conditions and Services: An Introduction (PDF)