First family to have their genome sequenced
| First family to have their genome sequenced | |
|---|---|
 First Family Ever Having Entire Genome Sequenced Debbie Jorde Heather Madsen Logan Madsen.jpg Heather Madsen, Debbie Jorde, Logan Madsen (left to right) | |
| Born | Debra Hepworth Salt Lake City, Utah |
| 🏳️ Nationality | American |
| 💼 Occupation | |
| Notable work |
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| Official website | |
The First Family Ever to Have Their Entire Genome Sequenced
In 2010, scientists mapped the entire genome sequence of each member of an American family of four to identify the causes of two rare diseases that affect the two children, making them the first family to have their genomes sequenced.[1][2]
Debbie Jorde
Debbie Jorde is the mother in this family of four. She has two children, Heather Madsen and Logan Madsen who both have the rare genetic disorders of primary ciliary dyskinesia, PCD, and Miller syndrome, a rare disorder; it is estimated to affect fewer than 1 in 1 million newborns. At least 30 cases of Miller syndrome have been reported in the medical literature.[3]
Debbie retired from her career as a hairdresser for 40 years and teaching aerobics for 30 years.
She is the author of the book, Eight Fingers and Eight Toes: Accepting Life's Challenges.[4] She does public speaking about overcoming challenges.[5]
Debbie is divorced from Heather and Logan's biological father. She is married to Dr. Lynn Jorde, chair of the Department of Human Genetics at the University of Utah School of Medicine.[2][1]
Children
Heather Madsen is a writer and contributed writings in Eight Fingers and Eight Toes. She also writes a blog. She speaks publicly about overcoming the challenges caused by her two rare diseases and autism.[5]
Logan Madsen is an artist and the subject of Logan's Syndrome.[6] He also speaks publicly about overcoming challenges from his two rare diseases and autism.[5]
Public speaking history
Debbie gave a capstone presentation titled, "Molecular and Cellular Foundations of Medicine Puts a Human Face on Cells and Molecules” to the first year medical students at Einstein College of Medicine. Debbie was interviewed by Robert Marion about raising her two children, Heather and Logan Madsen, both born with Miller syndrome.
Together with their mother, Heather and Logan have spoken to medical students at the University of Utah School of Medicine in their stepfather's human genetics course. The University of Utah genetic counselors have also attended their talks each year.[5]
The family has also spoken at the 2015 Utah Rehabilitation Association meeting and to the employees at the Utah Department of Workforce Services.
Genome sequencing
In 2010, Dr. Lynn Jorde decided to perform DNA sequencing on Debbie, Heather, and Logan, as well as the children's biological father in order to determine the cause of these two conditions, which were later determined to be genetic.[1][7]
As a result of Jorde's research, the gene responsible for causing Miller syndrome was discovered and determined as being inherited in an autosomal recessive fashion. The PCD-causing gene was also discovered and also determined as being inherited in an autosomal recessive fashion.[1][7][8]
This family of four later became the first family ever to have their entire genome sequenced.[1][7]
References
- ↑ 1.0 1.1 1.2 1.3 1.4 Daley, John (2011-02-15). "Scientific first with Utah family could unlock secrets of DNA and disease". Deseret News. Archived from the original on 2017-01-04. Retrieved 2018-11-15.
- ↑ 2.0 2.1 Stewart, Kristen (2010-03-10). "Unraveling one family's genome". Salt Lake Tribune.
- ↑ "Miller Syndrome".
- ↑ Stewart, Kristen (2010-12-03). "Utah mom writes about embracing 'eight fingers and eight toes'". Salt Lake Tribune.
- ↑ 5.0 5.1 5.2 5.3 Giardinelli, Christina (2018-10-17). "U Medical Students Learn About the Human Side of Medicine". The Daily Utah Chronicle.
- ↑ Calcaterra, Jill (2018-05-07). "Cinedigm Acquires Feature Documentary LOGAN'S SYNDROME". CNBC.com.
- ↑ 7.0 7.1 7.2 Maher, Brendan (5 October 2011). "Human genetics: Genomes on prescription". Nature. 478 (7367): 22–24. doi:10.1038/478022a.
- ↑ Wade, Nicholas \newspaper=New York Times (2010-03-10). "Disease Cause Is Pinpointed With Genome".
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