NNLM Reading Club: Inherited Diseases

NNLM Reading Club: Inherited Diseases


Topic: Inherited Diseases
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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.


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Fact Sheets


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

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Genetic Counselors

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 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

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

Book: Resurrection Lily
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NNLM Reading Club Book

Do you want to share this book with your reading group? The Network of the National Library of Medicine (NNLM) has made it easy to download the discussion questions and promotional materials.

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Join us for a discussion of Resurrection Lily

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Discussion Guide for Resurrection Lily
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Awards

Shainman's medical memoir has won several "top" (first place) literary awards:

  • 2020 CIPA EVVY Book Award Biography / Autobiography / Memoir
  • 2019 Independent Author Network Non-Fiction Book of the Year
  • 2019 Best Book Awards Science 
  • 2019 Independent Author Network Health & Medicine 
  • 2019 IndieReader Discovery Award Health & Medicine 
  • 2019 FAPA President's Award Health 
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Book

Book cover image Resurrection Lily

As Amy Byer Shainman discovers she has inherited a BRCA gene mutation that puts her at high risk of developing certain cancers, she struggles to come to terms with preventively removing her breasts when she does not have a breast cancer diagnosis. Through her experience making decisions about her health, Amy becomes invigorated with purpose and establishes herself as a leading advocate for those with BRCA and other hereditary cancer syndromes, tirelessly working to educate others facing the same daunting reality.ebook icon Audio book icon

Resurrection Lily: The BRCA Gene, Hereditary Cancer & Lifesaving Whispers from the Grandmother I Never Knew: A Memoir​ | Amy Byer Shainman | Archway Publishing | 2018 | 316 pages | ISBN: 978-1480867062

Author

Photo of Amy Byer Shainman

Amy Byer Shainman, also known as BRCA Responder, is an advocate, author, and producer providing support and education surrounding BRCA and other hereditary cancer syndromes. Shainman also is a BRCA1 gene mutation carrier and a "previvor" - meaning she is a survivor of a predisposition to cancer (a previvor is someone at extraordinarily high risk for cancer who has not had the disease). In 2010, she had two prophylactic surgeries to reduce her cancer risk drastically; a nipple-sparing, skin-sparing mastectomy with reconstruction and oophorectomy with a hysterectomy. 
 
Cure MagazineThe Jewish Journal, and The Palm Beach Post have featured Shainman's story. She has also appeared on numerous live and taped television and radio segments nationwide. As a digital ambassador for the National Society of Genetic Counselors gene pool, Shainman is considered one of fifteen influencers who has unique perspectives and knowledge in the fields of genetics and genetic counseling. She is an administrator for the largest female-only BRCA support group on social media and has published articles in The American Journal of Managed CareJupiter Magazine, and Oncology Nursing News. Currently, she is the consulting producer on Lady Parts. Executive produced by Joanna Kerns, the scripted feature film highlights what it's like to be a BRCA positive female at high risk of developing breast and ovarian cancer.

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NNLM Reading Club Presents...

....Amy Byer Shainmanalong with Ellen Matloff, Certified Genetic Counselor, and President and CEO of My Gene Counsel, a digital health company that provides scalable, updated genetic counseling solutions. In this powerful one-hour live stream event, these two genetic cancer experts will share their stories, their knowledge and answer your questions.

Watch the recording 

Documentary

In addition to her book, Resurrection Lily, Amy Byer Shainman is executive producer of the film, Pink and Blue: Colors of Hereditary Cancer, which is part of the NNLM Human Genetics Film Kit.

Watch the trailer:

The documentary takes a profound look into the BRCA world examining what it is and how this gene mutation puts both women and men at risk for developing numerous cancers. The film highlights the message that men are equally as likely to carry a BRCA gene mutation and this lack of information is deadly.

Book: Salt in My Soul
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NNLM Reading Club Book 

Do you want to share this book with your reading club? The Network of the National Library of Medicine (NNLM) has made it easy to download the discussion questions, promotional materials, and supporting health information.

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Discussion Guide for Salt in My Soul
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Book

Salt in My Soul book cover image woman standing on her head on a beach

Diagnosed with cystic fibrosis at the age of three, Mallory Smith grew up to be a determined, talented young woman who inspired others even as she privately raged against her illness. Despite the daily challenges of endless medical treatments and a deep understanding that she’d never lead a normal life, Mallory was determined to “Live Happy,” a mantra she followed until her death. Mallory worked hard to make the most out of the limited time she had, graduating Phi Beta Kappa from Stanford University, becoming a cystic fibrosis advocate well known in the CF community, and embarking on a career as a professional writer. Along the way, she cultivated countless intimate friendships and ultimately found love.ebook icon Audio book icon

Salt in My Soul: An Unfinished Life | Mallory Smith | Random House Trade Paperbacks | 2020 reprint | 336 pages | ISBN: 978-1984855442 | Official Website

Author

Mallory Smith, who grew up in Los Angeles, was a freelance writer and editor specializing in environmental issues, social justice, and healthcare-related communications. She graduated Phi Beta Kappa from Stanford University and worked as a senior producer at Green Grid Radio, an environmental storytelling radio show, and podcast. Her radio work was featured on KCRW, National Radio Project, and State of the Human. She was a fierce advocate for those who suffered from cystic fibrosis, launching the viral social media campaign Lunges4Lungs with friends and raising over $5 million with her parents for CF research through the annual Mallory’s Garden event. She died at the age of twenty-five on November 15, 2017, two months after receiving a double-lung transplant. Mallory’s Legacy Fund has been established in her memory at the Cystic Fibrosis Foundation

Book: A Sick Life
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NNLM Reading Club Book 

Do you want to share this book with your reading group? The Network of the National Library of Medicine (NNLM) has made it easy to download the discussion questions, promotional materials, and supporting health information.

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Join us for a discussion of A Sick Life book cover image

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Discussion

Discussion Guide for A Sick Life
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Book

Book cover image A Sick Life

A Sick Life chronicles Tionne’s journey from a sickly young girl in Des Moines who was told she wouldn’t live to see 30 through her teen years in Atlanta to how she broke into the music scene and became the superstar musician and sickle-cell disease advocate she is today. Through Tionne’s tough, funny, tell-it-like-it-is voice, she shares how she found the inner strength, grit, and determination to live her dream, despite her often unpredictable and debilitating health issues. She dives deep into never-before-told TLC stories, including accounts of her friendship with Lisa “Left-Eye” Lopes and her tragic death. Tionne’s unvarnished discussion of her remarkable life, disease, unending strength, and ability to power through the odds offers a story like no other.ebook icon Audio book icon

A Sick Life | Tionne Watkins | Rodale Books | 2017 | 256 pages | ISBN: 978-1623368616

Author

As the lead singer of Grammy-winning supergroup TLC, Tionne “T-Boz” Watkins has seen phenomenal fame, success, and critical acclaim. But backstage, she has lived a dual life. In addition to the balancing act of juggling an all-consuming music career and her family, Tionne has struggled her whole life with sickle-cell disease—a debilitating and incurable condition that can render her unable to perform, walk, or even breathe. This is her candid memoir of fame, strength, family, and friendship. Tionne is a national spokesperson for sickle-cell disease. She lives in Los Angeles with her daughter, Chase, and son, Chance.