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NNLM Reading Club: Inherited Diseases

Inherited Diseases

A genetic disorder is a disease caused in whole or in part by a change in the DNA sequence away from the normal sequence. ​Genetic disorders can be caused by a mutation in one gene (monogenic disorder) or by mutations in multiple genes (multifactorial inheritance disorder), and some diseases are caused by mutations that are inherited from the parents and are present in an individual at birth.


MedlinePlus

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MedlinePlus is a good starting point for finding trustworthy health information. Search health topics using keywords.


Fact Sheets

  • Sickle Cell Disease: Tips for Healthy Living (PDF)
  • Sickle Cell Disease: Managing Pain (PDF)
  • What You Should Know About Sickle Cell Disease and Pregnancy (PDF)
  • What is Cystic Fibrosis (PDF)

Video

Lisa: My Experience with BRCA Counseling and Testing

Library Programming

Expert Speaker

Genetic counselors are health professionals who are trained to help families understand genetic disorders and to provide information and support to those families. They may also serve as patient advocates by referring individuals or families to local services that can be of assistance.

Genetic research is a powerful tool for treating medical conditions, but it is still a new tool. Many people whose families are affected by genetic disorders don't understand how it will affect their lives. Even genetic researchers and doctors don't fully understand how genes cause all genetic disorders. Genetic counselors work with doctors and families to help families get the information they need to understand the disorder.

Invite a genetic counselor to give a community talk about the role of a genetic counseling, various genetic disorders, or the importance of discussing your family health history with your medical provider. You can find a genetic counselor from the website of the National Society of Genetic Counselors.

Young Readers

Book cover image of The Adventures of the Sickler  Book cover image Mallory's 65 Roses  Children's author reading My Genes Don't Fit Right Photo of author Shannon Pulaski holding her book Mom's Genes standing with her three children

  • The Adventures of the Sickler: The Transformation | Parker Todd | Scribble Scrabble Publishing | 2017 | 36 pages | ISBN: 978-0999364000
  • Mallory's 65 Roses | Diane Shader Smith | Independently published | 1997 | 24 pages | ISBN: 978-0970035301
  • My Genes Don't Fit Right!: Understanding the genetic inheritance pattern of cystic fibrosis | Abigail McKernon | Independently published | 2019 | 27 pages | ISBN: 978-179755029
  • Mom's Genes | Shannon Pulaski | Cure Media Group, LLC | 2018 | 29 pages | ISBN: 978-099976660

Library Skills Training

Learn.Genetics

We all have genes that don't work properly. In most cases the other copy of the gene makes up for the one that does not work properly and we are healthy. A problem only arises if we meet someone else who has a non-working copy of the same gene and we have a child who inherits two non-working copies of that gene. This is called recessive inheritance.

Sometimes if one of our genes is not working properly the other copy of the gene cannot make up for it and that causes a condition or an increased risk of developing a condition. Each time we have a child we randomly pass on one copy of each gene. If the child inherits the copy that doesn't work properly, they too may develop the condition. This is called dominant inheritance.

Examples of Single Gene Disorders
Examples of Multifactorial Gene Disorders


There's an NIH for that ... 

National Human Genome Research Institute (NHGRI) is the NIH institute that investigates genetic disorders.

The National Cancer Institute (NCI) is the leading NIH institute researching BRCA Mutations

National Heart, Lung, and Blood Institute (NHLBI) is the leading NIH institute researching treatment and cures for Cystic Fibrosis (CF) and Sickle Cell Disease