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

Genetic Linkage

Eye Melanoma, Media Hype, and Genomic Medicine

August 31, 2016

Tags: melanoma, ocular melanoma, uveal melanoma

The brown area in the lower left of this eye is a melanoma.
Melanoma of the eye presents a case study in the value of diagnosing by phenotype (symptoms and physical presentation) versus by risk genotype – a discussion that may impact ongoing efforts to sequence gazillions of human genomes. One recent estimate predicts two billion done by 2025.

The big question: How much genome data will be clinically useful? (more…)

Three Gene Therapies Report Good News

August 18, 2016

Tags: gene therapy, giant axonal neuropathy, Spark Therapeutics, Sanfilippo syndrome

Eliza O'Neill received gene therapy -- a drip into her hand -- in May.
Here’s an update on some of the rare disease families I’ve blogged about as they travel the long and winding road from diagnosis to gene therapy.

The Challenge

The rarity of many single-gene diseases complicates design of clinical trials for any type of treatment. How can researchers recruit a control group, when only a handful of patients have the disease? Many of these conditions affect very young children. (more…)

Summer Musings on the Deaf on Martha’s Vineyard and SevenEves

August 18, 2016

Tags: SevenEves, Martha's Vineyard, connexin, deafness

Deafness was normal on Martha's Vineyard in the 1800s
One recent morning, my husband and I hiked down to Great Rock Bight, our favorite spot on Martha’s Vineyard, before anyone else. When I first saw it years ago, I named it the Planet of the Apes beach after the huge rock that juts up a few hundred yards from shore, like Charlton Heston’s view of the remnants of the statue of liberty at the end of that film.

I had with me a sci-fi tome, "Seven Eves" by Neal Stephenson, and a glossy real estate magazine. Because our house is at the lower end of the price range, I like to ogle the spreads of zillion-dollar estates.

So I opened the magazine to "Historic Waterfront Chilmark Home," with a current image of a spectacular house on the left, and a view from 1901 on the right, behind owners Benjamin and Hattie Mayhew. The house was built in 1878 on 6 acres overlooking two big ponds. A mere $5 million.

Benjamin Mayhew was a descendant of Thomas Mayhew Sr, who "bought" the island in 1641, although the Wampanoag tribe of Gay Head and their ancestors had lived there for more than 10,000 years. Benjamin and his brother Jared were deaf, as were both of their parents, an uncle and two aunts, and many others.

I’d forgotten the wonderful story of the deaf community of Martha’s Vineyard, so thought I’d share it here. (more…)

Speedy the Tortoise and Altering the Genetic Code

August 6, 2016

Tags: sulcata tortoise, genetic code

Speedy the tortoise
Last week my sister sent me a great article from Buzzfeed on “a reptile dysfunction”. It’s about stupid people who buy cute little baby tortoises that, after a few sweet months, enter a growth spurt and rapidly begin toassume the dimensions of a dinosaur.

I did that.

An African Tortoise in Upstate New York

I got Speedy, an African spurred tortoise of species Centrochelys sulcata (they have their own closed Facebook group) at a reptile show when she was the size of an oreo. I should have realized that the fact that her natural habitat south of the Sahara was not exactly like that of the northeast US might be a limitation. But it was spring, and Speedy happily munched the lawn for months.

She grew. Fast. (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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