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

Genetic Linkage

Linking Gaucher and Parkinson’s Diseases

December 11, 2016

Tags: Gaucher disease, Parkinson's disease, lysosomal storage disease

"Gaucher cells" have a crinkly appearance from the build-up of glucocerebroside.
This month, JScreen’s ”Spit Happens" campaign is covering all costs not met by insurance for testing for carrier status for Gaucher disease, thanks to funding from the National Gaucher Foundation. The "spit happens" is an entertaining view of people spitting into tubes to collect DNA from dislodged cheek lining cells. (more…)

A Little Girl with Giant Axons, a Deranged Cytoskeleton, and Someday Gene Therapy

May 16, 2013

Tags: GAN, gene therapy, Alzheimer's disease, Parkinson's disease, The Forever Fix

Hannah, 7 years old (Dr. Wendy Josephs)
“When you hear hoof beats, think horses, not zebras.” So goes the mantra of first-year medical students. If a common disease is a horse and a rare disease a zebra, then giant axonal neuropathy (GAN), with only 50 or so recognized cases worldwide, is surely a unicorn.

Five years ago this week, 9-year-old Hannah Sames of Rexford, New York, who lives near me, received a diagnosis of GAN, a disease much like amyotrophic lateral sclerosis. And this month, thanks in part to the herculean fundraising efforts of Hannah's Hope Fund (HHF), the cover and lead article of the Journal of Clinical Investigation reveal most of the story behind the devastating inherited disease, with repercussions that will reach far beyond the tiny GAN community. (more…)

Anticipation

February 25, 2012

Tags: rare diseases, rare disease day, spinocerebellar ataxia type 2, SCA2, SCA1, fragile X syndrome, expanding triplet repeat, genetic testing, ALS, Lou Gehrig's disease, Parkinson's disease, Huntington's disease, myotonic dystrophy, amyotrophic lateral sclerosis, Carly Simon, Anticipation, X chromosome, ALS, mutation, Ricki Lewis, The Forever Fix: Gene Therapy and the Boy Who Saved It

Jordan and Hailey Kohl. Spinocerebellar ataxia type 2 affects several members of their family, including Jordan.
“Anticipation .. is keepin’ me waitin’,” sings Carly Simon in her song made famous in a ketchup commercial. But “anticipation” in the genetic sense is just the opposite of Carly’s croon – it means a disease that begins earlier with each generation.

Doctors once blamed patients for anticipation, as if people with sick older relatives could worry themselves into suffering similarly. Then, in 1991, discovery of a new type of mutation explained the curious worsening of fragile X syndrome: an expanding triplet repeat. (more…)

My New View of DTC Genetic Testing

February 15, 2012

Tags: direct-to-consumer genetic testing, BRCA1, breast cancer, 23andMe, Ricki Lewis, Alden March Bioethics Institute, Myriad Genetics, gene patenting, Ashkenazi Jews, genetic counseling, spit test, Parkinson's disease, National Institutes of Health, More Magazine

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“Are you still collecting stories about DTC testing? I've got one for you!” my grad student L.W. e-mailed a few days ago. Little did I know her family's experience would change my mind about direct-to-consumer genetic testing.

L.W. had taken my online course “Genethics” in 2008 for the master’s program at the Alden March Bioethics Institute of Albany Medical College. (more…)

Twin Study Supports Parkinson’s-Solvent Link

November 14, 2011

Tags: Parkinson's disease, twin study, Michael J. Fox Foundation, trichloroethylene, TCE, perchloroethylene, PERC, Annals of Neurology, Ricki Lewis, Samuel Goldman, Caroline Tanner, Parkinson's Institute Sunnyvale, NINDS, The Valley Foundation, James and Sharron Clark



In this age of genome sequencing, it’s refreshing to read about the continuing power of a simple tool of genetics: the twin study. But in reporting a new study linking long-term exposure to (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 10th edition.
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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