Glenn Nichols, surrounded by his hospice team. The author is in yellow.
April 23, 2017
The news release Monday morning grabbed my attention:
“Study finds wide gap in quality of
BRCA1/2variant classification between Myriad Genetics and a common public database.”
Myriad Genetics had been exclusively providing the tests, for $3000+ a pop for full BRCA
gene sequencing, for 17 years before the Supreme Court invalidated key gene patents
back in 2013. Since the ruling a dozen or so competitors have been offering the tests for much lower prices. Meanwhile, Myriad has amassed a far deeper database than anyone else, having been in the business so much longer. And it’s proprietary. (more…)
April 20, 2017
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Thirteen-year-old Hannah Sames looked beautiful a few weeks ago at the annual Hannah’s Hope Fund gala
near her hometown and mine. She’d put on 15 pounds since her gene therapy for giant axonal neuropathy (GAN)
9 months ago. Hannah wheeled around the teen-packed ballroom, her kinky tendrils draping her smile, chatting with guests.
I looked at her in wonder. Were the extra pounds a response to gene therapy, or just a normal adolescent growth spurt? Were her new abilities to pull herself up from a sitting position and to pick up a crouton with her fingers a consequence of subconsciously trying harder? Or were they, too, due to the 120 trillion gene-bearing viruses sent into the fluid bathing her spinal cord?
It’s too soon to tell. (more…)
April 19, 2017
It isn’t surprising that the intelligent alien life forms that communicate with Amy Adams’ linguistics professor character Louise Banks in last year’s film Arrival
resemble octopuses minus an arm. Octopuses and their close cousins the squid and cuttlefish are legendary for their intelligence and sophisticated behaviors
. The septapods of film fame eject their ink in patterns to converse with their human friend. (more…)
March 31, 2017
I didn’t think much about placentas until I had one and part of it dislodged halfway through a 4-mile run. Happily it ended well some months later with a “small for gestational age” tiny baby and a “large for just giving birth” me.
After that I became more sensitive to mentions of this intriguing organ that connects two individuals in a way that no other does. I noticed new hair conditioners
touting “placenta” as an ingredient, and learned about people eating them
. A geneticist friend kept one from a daughter’s birth, pickled in a jar, in his lab.
A placenta is much more than an "afterbirth," a biological afterthought. It's crucial. (more…)
March 19, 2017
Age-related macular degeneration slowly destroys central vision.
The small wavy shimmers and fuzzy areas in the 78-year-old’s eyes had grown slowly, leading to a diagnosis of age-related macular degeneration
(AMD), which affects more than 10 million Americans. She had the more common “dry” form. Despite 2 years of injections of one of the latest drugs (a vascular endothelial growth factor [VEGF] blocker), her sight was worsening. How much longer would she be able to drive, with a growing blob obscuring the center of her visual world?
Her family went online to research alternative approaches. (more…)
March 12, 2017
A bill that passed last week in the House threatens genetic privacy protections put in place with the Genetic Information Nondiscrimination Act (GINA
) of 2008. The “Preserving Employee Wellness Programs Act”
might instead be called the “telling on relatives” ruling.
According to GINA, employers can’t use genetic information to hire, fire, or promote an employee, or require genetic testing, and health insurers can’t require genetic tests nor use results to deny coverage. The law clearly defines genetic tests – DNA, RNA, chromosomes, proteins, metabolites – and genetic information –genetic test results and family history of a genetic condition.
GINA refers to a case, Norman-Bloodsaw v. Lawrence Berkeley Lab
from 1998, that allowed clerical and administrative workers to sue their employer for requiring testing for “highly private and sensitive medical genetic information such as syphilis, sickle cell trait, and pregnancy” without their consent or knowledge during a general employee health exam. I’m not sure how syphilis and pregnancy got lumped in with sickle cell trait (a carrier), but requiring any such test is considered an illegal search under the Fourth Amendment. The sickle cell request also violates Title VII of the Civil Rights Act by singling out employees of African ancestry. (more…)
March 5, 2017
The recent return of the "which bathroom?"
issue regarding transgender individuals’ use of public restrooms has made me think about how I’ve handled sex and gender in my human genetics textbook
. Over the editions, the two topics have diverged. And that’s at the crux of misunderstanding. (more…)
February 28, 2017
Talia Duff with Cynthia the Hippo
This year for Rare Disease Day
– February 28th – DNA Science honors Cure CMT4J: Advancing Gene Therapy for Rare Diseases
, run by Jocelyn and John Duff. Their daughter Talia’s “diagnostic odyssey” was unusually long because Down syndrome obscured a second condition, an extremely rare form of Charcot-Marie-Tooth (CMT) disease. (more…)
February 19, 2017
(credit: Children's Mercy Kansas City)
Mendel’s laws, like any laws in science, make predictions possible. A woman and man both carry a recessive mutation in the same gene, and each of their children has a 25% chance of inheriting both mutations and the associated health condition.
In contrast to our bizarre new world of “alternate facts,” science is both logical and rational. If an observation seems to counter dogma, then we investigate and get to the truth. That’s what happened for Millie and Hannah, whose stories illustrate two ways that genetic disease can seem to veer from the predictions of Mendel’s first law: that genes segregate, one copy from each parent into sperm and ova, and reunite at fertilization. (I’ll get to embryo engineering at the end.)
Millie’s situation is increasingly common – exome or genome sequencing of a child-parent “trio” reveals a new (“de novo
”), dominant mutation in the child, causing a disease that is genetic but not inherited
Hannah’s situation is much rarer: inheriting a double dose of a mutation from one parent and no copies of the gene from the other. (more…)
February 4, 2017
asked me late last week to cover the making of early embryos that have cells from pigs and humans, I couldn’t help but flash back to the Pigman
episode of Seinfeld. "The government's been experimenting with pig-men since the '50s!"
warned a terrified Kramer after finding one such creature hidden on the top floor of a hospital.
We didn't see Kramer’s porcine/human chimera of the 1990s, but a 1960 episode of the Twilight Zone
, The Eye of the Beholder, provides an earlier illustration of the mixing of the species. (more…)
Project to engage students in helping families with rare genetic diseases
Book Club Reader's Guide
Many challenging questions to stimulate thought and discussion.
38 discussion questions to get students thinking and talking about gene therapy, including the science, ethical issues, and the drug approval process.
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.
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.
An ideal starting point for anyone who wants to know more about genes, DNA, genomes, and the genetic ties that bind us all.
NPR WOSU Public Media
The Science of Gender Identity (All Sides with Ann Fisher)
DNA Science blog posts at Public Library of Science
My weekly blog posts at DNA Science cover breaking genomics news, often as personal stories, historical perspective, or looking ahead.
NORD Breakthrough Summit
Personalizing Medicine - Hannah's Story
Genetics and Reproduction: How Far Should We Go?
Interview with Filament Communications
Ricki Lewis on the Difference Between Writing About Science and Science Writing
A one-hour interview, mostly about why gene therapy has been beneath the radar.
Answers for the Family (http://answers4thefamilyblog.com) on www.LATalkRadio.com
Voiceamerica radio show
Kathryn Vox radio show, including "The Forever Fix"
Publishers Weekly starred review
first advance review for The Forever Fix
Advocates for published authors since 1912