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Glenn Nichols, surrounded by his hospice team. The author is in yellow.

Genetic Linkage

Whatís In A (Disease) Name?

November 12, 2017

Tags: ribosome, OMIM, Down syndrome, Huntington's disease, Vincent Pieterse, exome sequencing, RPS23

Vincent Pieterse has some unusual traits, and a rare mutation. Are they related as a novel syndrome -- or not?
Marc Pieterse was angry.

His son Vincentís unusual features Ė long, thick eyelashes; low-set ears; extra teeth; autistic behaviors; brittle hair; flat back of the head; hearing loss; developmental delay Ė had led Marc, an engineer and self-taught geneticist, to seek exome sequencing. He knew that strange combinations of traits could mean a mutation.

Sequencing Vincentís exome Ė the protein-encoding part of the genome Ė could reveal if a new mutation had arisen in him, rather than having been inherited from his parents. And thatís what happened. Vincent has his own dominant mutation in a gene called RPS23. He isnít, however, defined by any disease. Heís a striking, active, and happy young teen who loves watching and listening to birds as he rides his mountain bike to school through a nature reserve. (more…)

When a Disease is Genetic but not Inherited: Bea Rienhoff's Story

July 4, 2013

Tags: exome sequencing, mutation, textbook, human genetics

Hugh and Bea Rienhoff (credit: Leah Fasten)
Genetics is the study of genes, DNA, and variation; heredity is the passing of inherited traits from parents to offspring. Families with one member, typically a child, who has a collection of unusual symptoms that donít fit any clinical diagnosis may in fact have a genetic disease Ė but one that arose spontaneously in the child, rather than having been inherited from carrier parents.

Exome sequencing is helping to solve these genetics-but-not-heredity mysteries. The story of one little girl and her fatherís efforts to find her mutant gene, and how the tale wove in and out and now back into my human genetics textbook, illustrates the evolution of personalized genomic medicine.

THE BEA PROJECT
When Hugh Rienhoff first saw his daughter Bea, born in December 2003, he knew something was wrong. Her long feet, clenched fingers, poor muscle tone, widely-spaced hazel eyes, and a facial birthmark might have been just peculiarities to anyone who wasnít also a physician and a geneticist. (more…)

Rare Diseases: 5 Recent Reasons to Cheer

July 31, 2012

Tags: rare disease, Leber congenital amaurosis, gene therapy, exome sequencing

3-year-old Gavin Stevens is at the center of one of four papers just published in Nature Genetics about the discovery of a childhood blindness gene.
(This blog first appeared at Scientific American blogs on July 29. I have written about the 4 childhood blindness papers for Medscape Today, to be published August 2 or 3.)

On Sunday morning, July 21, I faced a room of people from families with Leber congenital amaurosis (LCA), an inherited blindness caused by mutations in any of at least 18 (more…)

Gavin's Story Revisited -- Childhood Blindness Mutation Discovered

July 29, 2012

Tags: exome sequencing, mutation, RPE, LCA, Foundation for Retinal Research

Gavin's mutation (in the NMNAT1 gene), discovered 8 months ago, was announced July 29, in Nature Genetics.
I'm rerunning this blog post from November, because Gavin's mutation was announced today -- the first step towards a gene therapy! Tomorrow I'll run my blog on the discovery that is now on Scientific American blogs.


In a hotel ballroom on the campus of the University of Pennsylvania on a midsummer Saturday in 2010, an unusual roll call was under way at the Family Conference for the
Foundation for Retinal Research
. Betsy Brint, co-head of organization, was calling out what sounded like code words Ė CEP290, (more…)

10 Things Exome Sequencing Can't Do -- But Why It's Still Powerful

May 20, 2012

Tags: next generation sequencing, exome sequencing, Ambry Genetics, introns, triplet repeat disorders, Huntington disease, fragile X syndrome

Clinically relevant information in DNA hides in repeats, controls, and "junk" -- not just the protein-encoding exome.
10 Things Exome Sequencing Canít Do Ė But Why Itís Still Powerful

Sequencing of the exome Ė the protein-encoding parts of all the genes Ė is beginning to dominate the genetics journals as well as headlines, thanks to its ability to diagnose the formerly undiagnosable.

The 2011
Pulitzer Prize in Explanatory Reporting
honored the Milwaukee-Wisconsin Journal Sentinelís coverage of a 4-year-old whose intestinal disorder was finally diagnosed after sequencing his exome. (more…)

instruction
Project to engage students in helping families with rare genetic diseases
Book Club Reader's Guide
Many challenging questions to stimulate thought and discussion.
Instructor's Guide
38 discussion questions to get students thinking and talking about gene therapy, including the science, ethical issues, and the drug approval process.
Narrative science
The Forever Fix is the uplifting true story of 8-year-old Corey Haas, who was cured of hereditary blindness just 4 days after gene therapy.
College Textbooks
A spectacularly-illustrated, clearly written human anatomy and physiology textbook, used in pre-health profession programs throughout the U.S.
A highly engaging, clearly written, beautifully illustrated introduction to the science of human genetics for the non-scientist. Now in its 11th edition, 12th to be published in September 2018.
Nonfiction
An ideal starting point for anyone who wants to know more about genes, DNA, genomes, and the genetic ties that bind us all.

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