Recommended Resources – Other Information from eMERGE
Participants
Risk Report & Results
Polygenic Risk Scores – Animated Explainer
Many people have a health condition related to a change in either one gene or changes in many genes. Where many genes are known to affect a condition, a polygenic risk score is used to look at the total changes across these genes to estimate a person’s risk of developing the condition. The eMERGE research hope to use polygenic risk scores to improve healthcare.
Polygenic Risk Scores Explained
Great resource from the National Institutes of Health discussing polygenic risk scores, how they are calculated, and what they can mean for your health.
https://www.genome.gov/Health/Genomics-and-Medicine/Polygenic-risk-scores
eMERGE Research Website
Resource for researchers interested in learning more about, or collaborating with, researchers in the eMERGE network.
Information About Conditions Studied in eMERGE
Asthma
How Does Asthma Work?
From TED Ed – five-minute explainer video on causes and management of asthma.
Asthma in Children
General information about asthma from the National Library of Medicine’s MedlinePlus, including how the condition is diagnosed and managed.
Asthma in Children
Information from the Cleveland Clinic about asthma diagnosis and management.
https://my.clevelandclinic.org/health/diseases/6776-asthma-in-children
Atrial Fibrillation
What is Atrial Fibrillation?
From the British Heart Foundation – short video explaining what atrial fibrillation is, how it affects your hearts ability to pump blood around your body, and why it’s important to get tested even if you have very mild symptoms.
Atrial fibrillation, Patient Care & Health Information
From Mayo Clinic, overview of atrial fibrillation, including symptoms, causes, and health management.
https://www.mayoclinic.org/diseases-conditions/atrial-fibrillation/symptoms-causes/syc-20350624
Atrial fibrillation, Patient Education
From the Centers for Disease Control (CDC), facts about atrial fibrillation, including links to several leading research publications.
Breast Cancer
Understanding Breast Cancer
From You And Breast Cancer, a discussion of the signs and symptoms of breast cancer, the factors that can increase risk, as well as screening, diagnosis, and treatment of breast cancer.
Breast Cancer, Patient Care & Health Information
From Mayo Clinic, overview of breast cancer, including symptoms, causes, and health management.
https://www.mayoclinic.org/diseases-conditions/breast-cancer/symptoms-causes/syc-20352470
Breast Cancer Overview
General information about breast cancer from the National Library of Medicine’s MedlinePlus, including how the condition is diagnosed and managed
Chronic Kidney Disease
Chronic Kidney Disease (CKD) - Explainer
From Cleveland Clinic, a discussion of the risks, symptoms, diagnosis and treatment options of chronic kidney disease (CKD).
Chronic Kidney Disease, Patient Care & Health Information
From Mayo Clinic, overview of chronic kidney disease, including symptoms, causes, and health management.
https://www.mayoclinic.org/diseases-conditions/chronic-kidney-disease/symptoms-causes/syc-20354521
Colorectal Cancer Overview
What is Colorectal Cancer?
From Stanford Health Care, specialists explain what can be done to prevent colon cancer, who is at risk, and new tests and therapies.
Colorectal Cancer Overview
General information about colorectal cancer from the National Library of Medicine’s MedlinePlus, including how the condition is diagnosed and managed.
Colon Cancer, Patient Care & Health Information
From Mayo Clinic, overview of colorectal cancer – sometimes called colon cancer – including information about symptoms, causes, and health management.
https://www.mayoclinic.org/diseases-conditions/colon-cancer/symptoms-causes/syc-20353669
Coronary Heart Disease
What is Coronary Heart Disease?
From Michigan Medicine, short video explaining what coronary heart disease is, common risk factors, and what can be done to reduce risk.
Hypercholesterolemia
High Cholesterol and Familial Hypercholesterolemia
Introduction to cholesterol and familial hypercholesterolemia from Alila Medical Media.
Prostate Cancer
What are the Signs and Symptoms of Prostate Cancer?
From Cancer Research UK, a discussion of the signs and symptoms of prostate cancer, how it is diagnosed and the tests needed to find out.
Obesity
What is Obesity?
From Ted-Ed, introduction to obesity, the rise in obesity cases across the world, and its links to a range of other diseases.
Type 1 Diabetes
What Is Type 1 Diabetes?
Short video from Diabetes UK that looks at the symptoms and management of type 1 diabetes.
Type 2 Diabetes
What Is Type 2 Diabetes?
Short video from Diabetes UK that looks at the symptoms and management of type 2 diabetes.
General Information About Genetics
MedlinePlus Genetics
Consumer-friendly information about the effects of genetic variations on human health. Federally-supported resources, include reviews of more than 800 genetic diseases and more than 1000 genes.
Learning Resources from the NHGRI
Lots of very good resources from the NHGRI, including major sections about The Human Genome Project, Facts Sheets, and educational resources for teachers and students.
https://www.genome.gov/Education/
Find a Genetic Counselor
The National Society of Genetic Counselors have a searchable database of genetic counselors. Their website also includes some education materials for patients and healthcare professionals.
https://www.nsgc.org/findageneticcounselor
NHGRI Talking Glossary
Talking glossary of genetic terms developed by the National Human Genome Research Institute. A huge range of definitions is provided by researchers from around the world.
https://www.genome.gov/glossary/
Help Me Understand Genetics
Help Me Understand Genetics is a handbook from the National Institutes of Health that contain useful information about genetics in clear language and provides links to even more online resources. The entire handbook can also be downloaded as a pdf.
Ethical, Legal and Social Implications Research Program
The ELSI Research Program supports examinations and investigations of the ethical, legal and social implications of genetics research.
Genetic Information Nondiscrimination Act of 2008
The Genetic Information Nondiscrimination Act of 2008, also referred to as GINA, is a new federal law that protects Americans from being treated unfairly because of differences in their DNA that may affect their health.
Information for Healthcare Providers
Improving Reporting Standards
Improving reporting standards for polygenic scores in risk prediction studies. Wand, H., Lambert, S.A., Tamburro, C. et al. Nature 591, 211–219 (2021).
Implementation and Implications
Polygenic risk scores
Polygenic risk scores: from research tools to clinical instruments. Lewis, Cathryn M, and Evangelos Vassos. Genome medicine vol. 12,1 44. 18 (2020).