Ricki Lewis

I'm dreading the debut of the Fox TV series Almost Family on October 2. In it, Julia Bechley discovers that her dying dad, a famous fertility doctor, had made dozens of personal DNA donations that are now millennials, at least two of whom have unknowingly hooked up.

Many of us in the donor-conceived (DC) community have already seen the series as the Australian show Sisters on Netflix. I hope the new incarnation changes the ending, which was the worst since the supposedly-dead Bobby Ewing appeared in the shower in the 1986 finale of the TV series Dallas and revealed that the entire season, in which he'd died, had been a dream.

The 2013 film Delivery Man preceded both versions of Dr. Bechley's misadventures. In it, Vince Vaughan is the befuddled father of 533 twenty-somethings, thanks to long-ago sperm donations. A lot of them.

The danger of unintentional inbreeding.

To continue reading, go to Genetic Literacy Project, where this post first appeared.

I was distressed to learn that Netflix cancelled Designated Survivor, after rescuing the show from ABC for a third season. Finally, the characters in the West Wing could speak realistically. But it didn't help.

I was thrilled at the bioterror-catalyzed plot, which borrowed Isaac Asimov's law of science fiction: change only one thing. But stronger science in the story could have built a compelling, biology-based case against white supremacy, because the weapon was to somehow seek the dark-skinned. Short-shrifting the science was a missed opportunity.

A relief from reality

The first episode of Designated Survivor aired September 21, 2016. With ten million viewers, many following star Kiefer Sutherland from his Jack Bauer/24 days, DS was quickly extended to a full season.

To continue reading, go to Genetic Literacy Project, where this post first appeared.

Like the mythological phoenix bird, gene therapy has risen from the ashes and is spreading its wings.

September 17 marked 20 years since the death of 19-year-old Jesse Gelsinger in a gene therapy trial. That tragedy halted the fledgling field, with the outlook worsening when, soon after, boys with an inherited immune deficiency developed leukemia when a gene therapy went off course. The momentum that had been slowly building since the first clinical trial in 1990 fizzled.

A Slow Comeback

Researchers rebuilt the viruses that ferry in working copies of genes, and gradually clinical trials resumed. But it took until late 2017 for the first FDA approval of a gene therapy: Luxturna, for blindness due to mutation of a gene called RPE65.

My book The Forever Fix: Gene Therapy and the Boy Who Saved It, from 2012, chronicles the history of the field as a backdrop to the Luxturna story. The "boy," Corey Haas, was 8 when he was treated in 2008. He's made amazing progress.

To continue reading go to my DNA Science blog at Public Library of Science. 

To a trained eye, the chromosome chart (karyotype) above has 4 irregularities, circled in red. They're chromosome pairs of uneven size.

The chromosomes represent genetic material missing or extra, but also a beautiful girl. Her father contacted me after he read my recent post about a friend's child with a rare mutation in a single gene, a more typical driver of so-called "diagnostic odysseys." Did I have any insight on treatments for his daughter? He'd send her lab reports.

The notations were in Hebrew, but the universal language of chromosome charts spoke clearly to me. The chromosome pairs are size-ordered, its members matching, but pairs 9, 14, 15, and 16 look like tall and short dance partners. This was something more profound than a single gene glitch, or even a missing or extra chromosome.

To continue reading, go to DNA Science, where this post first appeared.

Regular transfusions of the blood of a younger, physically fit donor can significantly retard the aging process," proclaims a middle-aged CEO being hooked up to an intravenous line to the buff, young Bryce, the "transfusion associate." It's a parabiosis procedure, the CEO explains, in episode 5 of season 4 of Silicon Valley.

He's right. Parabiosis experiments have indeed shown value to receiving young blood – if you're a mouse. And vice versa for sending old blood into a young rodent.

Although nothing short of a time machine or death can halt the aging process, the idea of therapeutic benefits from "young blood" has been around a long time. Now, results of a phase 2 clinical trial indicate that something, or some mix of somethings, in young blood is apparently safe and offers the first hints that it might slow the cognitive decline of mild to moderate Alzheimer's disease.

To continue reading, go to Genetic Literacy Project, where this post first appeared.

It seems that lately everything in genetics, which has morphed into genomics, is big, big, big.

• Data on half a million people represented in the UK Biobank are highlighting genome regions associated with difficult-to-study traits, like sexuality and handedness.
• The All of Us initiative at the National Institutes of Health, which plans to capture info on a million or more people, is ever-expanding, from embracing Native communities to welcoming health care providers.
• A pair of articles in the latest Nature Genetics describes algorithms that shift the mindset from "the" human genome to the many variations on the theme. Capturing how we differ will speed diagnoses, ease the finding of relatives, and fill in our evolutionary trees.

Another new Nature Genetics report, "A reference genome for pea provides insight into legume genome evolution," took me back to the origins of genetics and Gregor Mendel, who deduced the two basic laws of heredity by breeding pea plants with a handful of distinctive characteristics. A way for the general public to better understand what science is and how scientists think would be to set aside the mega studies for a moment and look back at the brilliant experiments that built the field of genetics, from those of Mendel to the beginnings of molecular biology.

So here are six of my favorite experiments in genetics, from Mendel's peas to double helices, chosen for their insight and creativity. These are in addition to my DNA Science post about the 19-year-old college student who invented gene mapping, paving the way to genome sequencing and consumer DNA ancestry tests.

To continue reading, go to my DNA Science blog at Public Library of Science.

The once-prevailing concept of a sole "gay gene" dictating sexual orientation has been put to rest in a powerhouse study published in Science. The work illustrates the nature of science: evolving with the input of new data, especially the large-scale contributions of bioinformatics and crowd-sourcing.

"We formed a large international consortium and collected data for more than 500,000 people, comparing DNA and self-reported sexual behavior. This is approximately 100 times bigger than any previous study on this topic," said lead author Andrea Ganna, of the Institute of Molecular Medicine in Finland and an instructor at Massachusetts General Hospital and Harvard Medical School, opening a news conference earlier this week.

Human Sexuality is Nuanced and Complex

The investigation lowers the estimate of the genetic contribution to same-sex sexual behavior, thanks to analysis of a trove of data from the UK Biobank and the consumer genetic testing company 23andme.

I hope that the demonstration of a diminished role for genetics will counter the idea that having sex with a person of the same sex is something biologically broken that needs to be fixed. "Using these results for prediction, intervention, or a supposed 'cure' is wholly and unreservedly impossible," points out Melinda Mills, a sociologist from the University of Oxford in an accompanying Perspective.

To continue reading go to my DNA Science blog at Public Library of Congress, where this post first appeared.

A small group of scientists, regulators, business people and patient advocates met recently at the National Academy of Sciences in Washington, D.C., to discuss the path forward in using genome editing tools, like CRISPR, to modify the human germline – that is, eggs, sperm or fertilized eggs. Such a change is heritable, passed to future generations.

It was the inaugural meeting of the International Commission on the Clinical Use of Human Germline Genome Editing. The tone during the day [August 13] was considerably more measured than the media splash that Victoria Gray, a 34-year-old from Mississippi with severe sickle cell disease, had made a few weeks earlier.

She's the first person to undergo a treatment using CRISPR, but the clinical trial she's in, sponsored by Vertex Pharmaceuticals, targets only cells that give rise to red blood cells, which shed their DNA as they mature. Victoria is the first of 45 patients expected to enroll, with results in summer 2022.

Altering the germline is a different story.

To continue reading, go to Genetic Literacy Project, where this post first appeared.

Today [August 13] the US National Academy of Sciences is hosting the first meeting of the International Commission on the Clinical Use of Human Germline Genome Editing in Washington, to discuss controversial applications of CRISPR to human eggs, sperm, or fertilized ova, in the wake of Chinese researcher He Jiankui announcing the birth of CRISPR twins after a similar meeting in 2017 (See Do China's controversial CRISPR babies illustrate the need for an undo button?).

Although only one clinical trial is up-and-running for CRISPR to treat body cells, with an initial patient making the media rounds just last week to discuss her cells doctored to counter sickle cell disease, many other applications are in preclinical testing — animal models and human cells and organoids. And they're not restricted to rare diseases.

Imagine a single injection that quells the inflammation behind lower back pain — perhaps forever. CRISPR may make that possible by dampening the immune system's cytokine signals, according to a report in the July issue of Human Gene Therapy.

To continue reading, go to Genetic Literacy Project, where this post first appeared.

When the name Kary Mullis popped up in my news feed on Monday, I was excited to read what I thought would be an update on the renegade inventor I'd met years ago at a small biotech gathering in San Diego. Back then, in the late 1980s, I'd interviewed him for Genetic Engineering News, where I had the gene amplification beat – a field that began with the polymerase chain reaction, aka PCR.

An Eclectic Technology

Kary Mullis died on Monday, August 12, of heart disease and respiratory failure. He was so quirky that obituaries, like the one in the LA Times, led off with such descriptors as "LSD-dropping, climate-change-denying, astrology-believing, board surfing." That obit calls PCR a "discovery." But the technology wasn't laying around waiting for someone to find it, like an ancient skull. Instead, it was an invention deduced from the scrutinizing the mechanics of DNA replication.

To continue reading, go to my DNA Science blog at Public Library of Science.