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

Genetic Linkage

An American Horror Story: The AHCA and Anencephaly

May 11, 2017

Tags: neural tube defect, American Health Care Act, anencephaly

Last week I read with incredulity section 215 of The American Health Care Act, the part that states that it “does not include coverage for abortions (other than any abortion necessary to save the life of the mother or any abortion with respect to a pregnancy that is the result of an act of rape or incest).”

How would such a draconian measure, should it become law, affect the field of prenatal diagnosis? (more…)

Pulling the Plug on the First Gene Therapy Drug

May 1, 2017

Tags: gene therapy, Glybera

2017 is supposed to be the year that FDA finally approves a gene therapy. But last week, the company behind the first approved gene therapy in Europe, UniQure, announced that it won't “pursue the renewal of marketing authorization” that expires October 25.

What happened? Is the move a setback for gene therapies in the pipeline? I don’t think so.
(more…)

Dueling BRCA Databases: What About the Patient?

April 23, 2017

Tags: BRCA, breast cancer

The news release Monday morning grabbed my attention:

“Study finds wide gap in quality ofBRCA1/2variant 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…)

After Gene Therapy: Hannah’s Journey Continues

April 20, 2017

Tags: giant axonal neuropathy, gene therapy, Hannah Sames, Steve Gray

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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…)

Octopuses, Squid, and Cuttlefish: RNA Editing Instead of Genome Evolution?

April 19, 2017

Tags: octopus, squid, cuttlefish, cephalopod

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…)

What's In A Placenta?

March 31, 2017

Tags: placenta, transcriptome

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…)

Blinded By Stem Cells

March 19, 2017

Tags: stem cells, age-related macular degeneration, stem cell tourism

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…)

Saving GINA: Is Genetic Privacy Imperiled?

March 12, 2017

Tags: genetic privacy

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.

GINA

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…)

Is Transgender Identity Inherited?

March 5, 2017

Tags: transgender, genetics of transgender

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…)

Rare Disease Day 2017: Talia's Story

February 28, 2017

Tags: gene therapy, Charcot-Marie-Tooth Disease, trisomy 21, Down syndrome, CMT4J

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…)

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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