What if part of the next newest discoveries in human genetics medical research could involve you, your family or your friends? This will happen. It’s only a matter of time. Science is moving forward at a rapid rate and groundbreaking research changed my family’s lives.
Thirty years ago, human genetics was a topic that most people avoided during social situations. My husband, Lynn Jorde, is a human geneticist. When we were dating most social conversations ended when people asked him what he did for work and he told people he is in human genetics.
I don’t think this happened because of a lack of interest. I believe people feared looking uneducated. They didn’t know anything about human genetics, so they didn’t want to engage in discussions about it then. Now, people are excited to ask Lynn questions about human genetics, gene sequencing, and other topics in the field
Human Genetic’s Newest Discoveries Published in Nature Science Journal
First Family Worldwide to Have Entire Genome Sequenced
My daughter and son, Heather and Logan, both have a rare disease called Miller syndrome, and also a lung disease. The geneticists couldn’t tell us why so we became an interesting study.
Scientists did whole DNA genome sequencing on our family, which means they looked at all our genes. This was the first time complete sequencing had ever been done on an entire family. As a result, we became the first family worldwide to have all our DNA sequenced.
International Science Journal, Nature: Article about Historical Discovery
An international science journal, Nature, published an article describing the details of the research. The report also reveals other discoveries scientists made. Nature; International Journal of Science: “Human genetics: Genomes on prescription.”
“Lynn and his collaborators had been talking about sequencing the genomes of an entire ‘nuclear’ family affected by a genetic disease, both to identify the mutation responsible and to investigate how genes are inherited in unprecedented detail. Debbie, her former husband and her now-adult children, Heather and Logan Madsen, were happy to take part, and in 2009 became the first family in the world to have their genomes fully sequenced.”
Getting Answers Brings Peace
For 33 years, we lived without answers as to why Heather and Logan have two rare diseases. Scientists discovered that two different recessive genes caused both of Heather and Logan’s conditions.
We are thrilled scientists found the genes that cause these diseases. We’re happy to have answers. Also, knowing why Heather and Logan have diseases brought us peace.
Having Answers Creates Feelings of Belonging to Society
Logan feels less separate from humanity because he learned that if he wanted to have children, he could have a child without Miller syndrome or a lung disease.
Heather feels like she belongs to society because she knows the cause of her diseases. She said, “Our diseases are just mother nature working things out.” Also, now she can give people an answer they understand when they ask her why she has Miller syndrome.
Fun to Put Our Bookmark in Science
We are excited that we contributed to the ground-breaking research. Also important, other families can have whole DNA genome sequencing done to receive answers. This project started scientists doing other important studies in the field of genetics.
Researchers at the University of Utah interviewed our family and recorded a short video. They asked us questions surrounding our experiences during this research and also about our feelings about having answers. Click the link below to watch the video and read more:
Interview: First Family Worldwide Has their Entire Genome Sequenced
