Glenn Nichols, surrounded by his hospice team. The author is in yellow.
January 12, 2016
Hannah Sames will have gene therapy in March, after an 8-year effort from her family. Go Hannah!
Eleven-year-old Hannah Sames can still curl her toes, just barely. But time is running out.
If Hannah can move her toes for a few more weeks, until she becomes the fourth child in a clinical trial for gene transfer to treat giant axonal neuropathy (GAN), the disease might halt – she may even regain function, as mice did.
It’s been an 8-year wait. So Facebook
friends call 2016 “Hannah’s year.”
The first sign that something was amiss (more…)
November 19, 2014
Eman (arrow) at an Ebola awareness workshop a few weeks ago. He is in the hospital now, with a fever, but has tested negative for Ebola.
My last post continued Emmanuel Gokpolu’s reporting from Ebola ground zero in Liberia. Ebola interrupted Eman’s medical education, so now he is educating his people about strategies to minimize risk of infection.
Eman and I began a very special friendship when he first contacted me when using my human genetics textbook in college. Right now he is in a hospital with a fever, after finally convincing the staff to admit him. It might be a flare-up of his malaria, we don't yet know.
This post picks up in early October, when Ebola suddenly jumped from a topic rarely reported in the U.S. ,to major news when it arrived here. (more…)
August 7, 2013
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Hi everyone! Since last fall I've been blogging for Public Library of Science
, at http://blogs.plos.org/dnascience/
As you can see, I gave up cross-posting here on July 4 because through this site (Author's Guild) I have to type in all the html code, whereas PLOS uses an easy wordpress template. I got lazy. But not about blogging! So check out DNA Science at Public Library of Science. A new post every week, and I'm open to ideas and guest bloggers.
I always try to write about what everyone else misses.
August 20, 2012
Gregor Mendel: should he stay or should he go (in textbooks)? (National Library of Medicine)
Summer reading for most people means magazines, novels, and similar escapist fare, but for me, it’s the American Journal of Human Genetics (AJHG). Perusing the table of contents of the current issue tells me what’s dominating this post-genomic era: information beyond the obvious, like a subtext hidden within the sequences of A, (more…)
July 10, 2012
What if "Fifty Shades of Grey" was about -- digestion?
Come summertime, even nerds need to escape to a trashy novel. Megabestseller “Fifty Shades of Grey” tells the tale of Anastasia Steele, an innocent ensnared within the orbit of the mysterious “dominator” Christian Grey. Despite its enshrinement at the top of the Amazon ranks, the book reads as if written by a horny 15-year-old, (more…)
June 4, 2012
14-year-old Max Randell, who has Canavan disease, is graduating middle school!
Tomorrow night, Max Randell
will graduate from middle school. He even passed a test on the U.S. Constitution. I don’t think I could do that.
Max has Canavan disease. And thanks to gene therapy, he’s here to celebrate.
Canavan disease is an inherited disease that strips the insulation from nerve cells in the brain. It destroys neural function, beginning at birth and likely before, and the child loses the battle by age 8 -- unless she or he has gene therapy, still experimental (as are all gene therapies). (more…)
May 13, 2012
3D CT scan of child with ACS. Lower jaw is small and malformed (left); same aged child with normal jaw (middle); lower jaw of child with ACS inverted over upper jaw of normal skull (right). (Credit: Image courtesy of Seattle Children’s).
Body-Altering Mutations – In Children and Flies
I became a science writer, circa 1980, because I didn’t think flies with legs growing out of their heads – my PhD research – had much to do with human health. So when I spied “A Human Homeotic Transformation”
way down on the Table of Contents in the May issue of the American Journal of Human Genetics, I was as riveted as a normal person would be getting a copy of People with a celebrity on the cover. (more…)
May 5, 2012
HIV on a human lymphocyte.
Buried somewhere beneath the long-awaited announcement of the birth of Jessica Simpson’s baby on May 2 was encouraging news about HIV infection: gene therapy appears to be safe.
Anti-retroviral drugs (ARTs) have been remarkably successful, but they require daily doses and have adverse effects. Gene transfer is an alternative approach that gives selected cells the genes to manufacture proteins necessary to counter a particular disease. Gene transfer (which technically becomes gene therapy once it works) to treat an enzyme deficiency, for example, provides genetic instructions for the missing enzyme. To treat an infection or cancer, gene therapy bolsters immune system cells.
May 2, 2012
I'm reposting this 2-year-old blog about the various bacterial outposts in the human body, in celebration of today's publication of the microbiome of a very special, intimate place. (I can say no more because it is embargoed until 2PM, when I will be traveling.)
Yesterday I committed a terrible crime. I walked away from a treadmill at the Y without scrubbing the handles.
“Ricki, get back here,” admonished the attendant as I headed for the elliptical. “You forgot to wipe down!”
“But I’m not sweating, and I never get sick. I won’t pass along (more…)
April 26, 2012
First published in Scientific American (blogs), 4/25/12
When cosmetic gynecologist Adam Ostrzenski, MD
set out to discover the elusive G-spot, the part of a woman’s anatomy supposedly responsible for orgasm, he followed a flawed premise – but his finding announced today will undoubtedly generate frantic media coverage.
The discovery of the G-spot in a lone elderly corpse and the lack of information on just what Dr. O dissected are obvious limitations of the paper in the Journal of Sexual Medicine
, a peer-reviewed publication from Wiley. Less obvious is trouble with a different G – the guanine in genes. (more…)
April 22, 2012
Corey Haas and Hannah Sames sign their photographs in "The Forever Fix: Gene Therapy and the Boy Who Saved It."
Yesterday I had two very special guests at my book
talk and signing at the Schenectady library: Eleven-year-old Corey Haas, who is “the boy who saved gene therapy” in the metaphorical phrase in the book title, and eight-year-old Hannah Sames, who will have gene therapy.
Corey and Hannah represent gene therapy’s immediate past and future. They put faces on a once-moribund biotechnology reborn after a series of tragic errors and failures. They are also remarkable children: bright, poised, aware, and charming. They are making history. (more…)
April 19, 2012
Podoconiosis is painful and isolating, affects millions, and is completely curable -- with shoes.
This blog was first published at Scientific American blogs
In Fasil Tekola Ayele’s native Ethiopia, the people call it “mossy foot.” Medical textbooks call it podoconiosis, non-filarial elephantiasis, or simply “podo.”
The hideously deformed feet of podo result not from mosquito-borne parasitic worms, as does filarial elephantiasis, nor from bacteria, like leprosy. Instead, podo arises from an immune response to microscopic slivers of mineral that penetrate the skin of people walking barefoot on the damp red soil that tops volcanic rock. Podoconiosis means “foot” and “dust” in Greek. (more…)
April 11, 2012
“Next, news that all women will want to hear!” teased the commentator on the increasingly imbecilic Today Show.
Soon I learned that, finally, we womenfolk need no longer suffer from the “horrible, dimpled ‘orange peel’ skin” of cellulite. The new miracle cure sounded like “cellulase,” an enzyme that breaks down wood.
Googling, I soon discovered that “Cellulaze” is instead a new laser technique that “pinpoints and disrupts dimpled pockets of herniated fat” and melts away the collagen cords that hold in place the vile lipid, while promoting formation of new collagen and elastin. It joins a long list of cellulite remedies, including sound waves, radio waves, massage, retinol, red algae patches, and extracts from licorice roots, horse chestnut, and kola. The market is $2.3 billion. (more…)
April 3, 2012
Comparing whole genome (or exome) sequencing to predict common diseases or identify rare single-gene diseases is like comparing the proverbial apples to oranges.
The news is being trumpeted everywhere – whole genome sequencing won’t help the average person predict common illnesses.
This isn’t exactly astonishing to anyone who has taken a genetics course, but the Johns Hopkins team, in Science Translational Medicine
, provides elegant evidence to back up the long-held idea that the so-called “complex," common diseases result from so many intertwined inherited as well as environmental threads that using a DNA sequence as a crystal ball just won’t work – at least until more data accumulate. (more…)
March 28, 2012
In osteogenesis imperfecta, the whites of the eyes are bluish-gray. Many genetic diseases are pleiotropic, affecting more than one body part.
A challenge of living with a genetic disease, especially a very rare one, is that the mutation may affect different body parts. A health care practitioner may not consider a patient’s inherited condition, especially if the most recognizable symptoms don’t fall into his or her specialty.
Shirley Banks discovered the importance of seeking a second, specialized opinion when the doctor she’d been seeing for many years had a disturbing reaction to a question.
The Long Road to a Diagnosis
The Banks family has osteogenesis imperfecta
, (OI) which affects 1 in 20,000 live births. (more…)
March 25, 2012
In Praise of Mentors
I found him on Linked In, an unusual but familiar name among the many that the networking website had somehow deduced I should connect to. Elof Carlson
, a blast from my past.
Back in fall 1975, when I was at SUNY Stony Brook, he taught Bio 101, and enlisted senior biology majors as his teaching assistants. Dr. Carlson, author of 14 books and a beloved teacher of many, was the first person to teach me how to teach. (more…)
March 16, 2012
Great display at Albany Barnes + Noble
Reports are trickling in as people read my new book, The Forever Fix: Gene Therapy and the Boy Who Saved It
(St. Martin's Press). It’s been amazing to hear the emotional ups and downs that accompany the experience, taking me back to how I felt writing the book.
For months, the words poured out, seemingly out of my control. I’d interview parents and researchers, usually late in the day, and be unable to sleep, immersed in their stories. (more…)
March 9, 2012
Gene therapy gave vision to Corey Haas. (photo: Dr. Wendy Josephs)
Chicago – I left fruit fly research circa 1982, shortly after earning my PhD in genetics, because I didn’t think insects with legs growing out of their heads was of much import to human health.
Although I went on to a rewarding career as a writer, I quickly learned that I was wrong about the (more…)
February 25, 2012
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…)
February 22, 2012
The human Y chromosome
Let me get this straight: The human Y chromosome has barely changed from that of a rhesus macaque, a monkey from whom we parted ways some 25 million years ago, and that’s good news? I suppose compared to disappearing, it is.
For several editions now, my human genetics textbook
has run an “In Their Own Words” essay in which MIT’s David Page, protector of the Y, has defended the measly male chromosome against charges from Jennifer A. Marshall-Graves, of Australian National University, that it is disappearing. She helpfully points out in my book, “You can lack a Y and not be dead, just female,” then goes on to call the Y “a pathetic little chromosome that has few genes interposed with lots of junk.” (more…)
February 15, 2012
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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…)
February 8, 2012
It doesn't take a brain scientist to see that the visual cortex of this formerly-blind woman lights up -- after gene therapy.
It isn’t often that a brain scan chokes me up, but this one did. The fMRI shows area 17 of the visual cortex coming to life in a woman born with Leber congenital amaurosis type 2 (LCA2). She’s part of the very same gene therapy clinical trial chronicled in my upcoming book The Forever Fix: Gene Therapy and the Boy Who Saved It
. The symbolic boy is Corey Haas, who, four days after gene therapy in 2008 at age 8, screamed when he saw the sun at the Philadelphia zoo, his shadow world suddenly brightened. (more…)
January 27, 2012
"Research shows genes influence criminal behavior," proclaims a January 25 news release
, setting my genetic determinism detector on high alert.
I flashed back to the cover of the May 18, 1970 Newsweek, “Congenital Criminals?” which probed the work of Patricia Jacobs. Here’s what my human genetics textbook
says on the study provoking the 1970 headline: (more…)
January 21, 2012
It takes a village to produce a textbook.
“will let anyone make their own interactive textbook, in like 5 minutes flat,” according to several reports on Apple’s January 19 announcement. Then why did my first college textbook, Life, take 10 years?
It’s simple: researching, writing, editing, and publishing (more…)
January 11, 2012
Strawberries can use a gene from peanuts to withstand frost because the genetic code is universal.
Humans do not have their own genetic code, and certainly each of us does not have his or her own. The idea of our utter uniqueness might be attractive, but genetics just doesn’t work that way. And it’s a good thing.
The genetic code is the correspondence between a unit of DNA (more…)
January 10, 2012
We are all people of color, except the Invisible Man and Woman.
I struggle to stay politically correct when updating my human genetics textbook
. “Hemophiliac” became “person with hemophilia” and “victim” vanished several editions ago. In the current incarnation, “mentally retarded” became “intellectually disabled” after colleagues warned that (more…)
January 4, 2012
“Breakthroughs” in biomedicine are rarely that – they typically rest on a decade or more of experiments. Consider gene therapy.
I just unearthed an article from the December 1990 issue of Biology Digest, "Gene Therapy." I wrote it a mere two months after the very first gene therapy experiment, the much-publicized case of 4-year-old Ashi DeSilva, (more…)
December 30, 2011
I don’t usually take too kindly to the evil geneticist stereotype in fiction, but I can’t resist a good dystopian novel. "When She Woke,"
by Hillary Jordan, is the perfect book (more…)
December 22, 2011
In this age of expiring drug patents and stalled pipelines, I was pleasantly surprised to find in my morning batch of news releases four reports of promising, eclectic ways to fight diverse diseases. The (more…)
December 16, 2011
I still marvel at the interface between a tissue and an organ, even after a quarter century of writing college biology textbooks.
I can easily envision a sheet of epithelium folding itself up into the tiny tube of a capillary. But how do only four basic tissue types connect and contort to fashion such (more…)
December 6, 2011
Seeking evidence for evolution? Look at bed bugs.
For the past century, the 5-millimeter-long, triangular headed, reddish residents of urban hotel bedrooms have mutated themselves into resistance
to any insecticide we can throw at them. Cimex lectularius was nearly vanquished mid-century, when (more…)
November 29, 2011
We humans might not be able to regrow a leg, as can a cockroach or salamander, or regenerate a missing half, like a flatworm, but our organs can replenish themselves – thanks to stem cells. Two new reports about opposite ends of the respiratory system may pave the way for replacement breathing parts.
A 36-year-old (more…)
November 14, 2011
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…)
November 4, 2011
Gene therapy is experiencing a renaissance, with many of the recent successes in children. For some conditions, the younger the child, the better the genetic correction, because affected tissues degenerate with time. This is the case for adrenoleukodystrophy (ALD), the “Lorenzo’s Oil” disease that strips the insulation from brain neurons. One goal of (more…)
October 27, 2011
“Keeping weight off a battle with body,” trumpeted the Associated Press’s version of The New England Journal of Medicine
report that hormones hike hunger so lost weight rapidly returns. NPR, NBC, everyone, it seemed, covered the study, with nary a comment (more…)
October 20, 2011
According to a new review in The Lancet
, when it comes to transplants from pigs, smaller is better. (“Clinical transplantation: the next medical revolution?” from David K. C. Cooper and colleagues at the Thomas E. Starzl Transplantation Institute of the University of Pittsburgh Medical Center.)
People have harbored pig parts for years, in the form of bladder linings, ligaments, and of course heart valves. (more…)
October 1, 2011
It’s been a strange week. The tenth edition of my human genetics
textbook was published, just as 23andMe
announced that they now offer whole exome sequencing, for $999. (more…)
August 15, 2011
A new biomedical abbreviation debuted July 22, ACHM (for Animals Containing Human Material) in a report of the same name from the UK Academy of Medical Sciences
. ACHM will soon replace, I hope, the phrase “humans and animals,” which implies to the taxonomically inclined that we are instead fungus, plant, or microbe. (more…)
July 10, 2011
is a “novel psychotherapeutic approach” that gives patients with a 6-month life expectancy “an opportunity to reflect on things that matter most to them or that they would most want remembered.” In these days of medical experts such as Sarah Palin equating reimbursed end-of-life discussions to death panels
killing granny, an outcomes evaluation of any such intervention is essential. (more…)
July 4, 2011
After 60+ years of smoking, my mother-in-law’s lungs were surely a toxic wasteland, yet nothing would make her quit. By the time that studies from the 1950s finally led to warning messages on cigarette packages in the 1960s, too many nicotine molecules had bombarded neuron receptors in her brain’s nucleus accumbens, for far too long. She, like millions of others, was hooked. (more…)
June 22, 2011
I discovered a treasure at a thrift store. For 89 cents, I bought “The People’s Common Sense Medical Adviser in Plain English or Medicine Simplified,” by Dr. R. V. Pierce, head of The Invalids’ Hotel and Surgical Institute in Buffalo, New York, circa 1909. In these days of WebMD and direct-to-consumer genetic testing, this peek into medical history is quite an eye opener.
The first part of the 1,000-page tome is eerily similar to the human anatomy and physiology textbooks I co-author. Some things don’t change much. The final section unveils an astonishing natural pharmacopeia, from various barks and roots, to pulverized rabbit testicles to cure older men suffering from erectile dysfunction, or perhaps the newly-named “low T.” In between are sections that are just odd.
Chapters cover hygiene, “mother and babe,” marriage, and my personal favorite, “self abuse.” “Statistics show that insanity is frequently caused by masturbation,” admonishes Dr. P., and it can be deadly. He rails against “criminal abortion,” which is “secretly practiced by women who desire to rid themselves of the evidence of immorality, and by those in wedlock who wish to avoid the care and responsibility of rearing offspring.” And the good doctor has ideas about race that echo back to Darwin. While genetic researchers today marvel at the diverse genomes of the Koisan of Namibia, Dr. P. equates them to baboons.
The Medical Adviser is just as telling for what it omits – cancer, for example – from a time when tuberculosis (“consumption”), smallpox, and various fevers were of far more concern. It teems with terms probably not uttered in decades, and new to me: erysipelas, quinsy, scrofula, and of course spermatorrhea, about which the esteemed author obsesses (more on that soon).
The book is festooned with marvelous illustrations and page after page of testimonials. Sexism is entrenched. While names and photographs accompany the musings of women with “female weakness,” “womb trouble,” and “nervous collapse,” complaints from men with the aforementioned spermatorrhea (“seminal weakness,” aka premature ejaculation, thanks to self abuse) are identified only by case numbers.
I think Dr. P. could have used a female co-author.
June 20, 2011
Genetic Linkage connects new research findings, based on the wiring of my brain after years of writing a human genetics textbook and lots of articles. Here, the linking of sense and nonsense.
The excitement of genetic research these days is when genome sweeps of people sharing a disease reveal possible responsible genes. That’s what happened when researchers at the Perelman School of Medicine at the University of Pennsylvania looked at genomic landmarks among 1,114 brains from people who had died of progressive supranuclear palsy
(PSP), a form of dementia that affects movement.
PSP is a “tauopathy,” in which the dark gummy protein tau, of Alzheimer’s fame, smothers the brain. Compared to unaffected brains, the PSP brains differ in three genome neighborhoods, harboring three new
candidate genes that make sense: one impairs brain cells’ abilities to untangle misfolded proteins, another boots misfolded proteins out of cells, and a third may help wrap brain cells in insulating myelin. New drug targets!
In genetics nonsense is important too. A nonsense mutation inserts a “stop” right smack in the middle of a gene, like a period in the middle of a sentence. It shortens the encoded protein, causing some 1800 diseases. Ignoring a nonsense mutation can restore function, like saving a sentence truncated by an errant period with a stroke of white-out. The idea isn’t new – researchers discovered that bacteria can read-through nonsense mutations in the 1960s, and that certain common antibiotics, such as gentamicin, enable cells to read-through nonsense. Those drugs may provide old-fashioned (cheap) treatments for genetic diseases such as Rett syndrome
. Alas, early attempts at treating cystic fibrosis
, and Duchenne muscular dystrophy
by suppressing nonsense mutations didn’t work because the antibiotic doses necessary would be toxic.
Now Yi-Tao Yu and co-workers at the University of Rochester report in Nature
that they have invented a way to mimic antibiotic-mediated nonsense suppression. They’ve used a synthetic RNA to chemically tweak nonsense codons so that they are instead read as bona fide amino acids, in essence altering the genetic code. So far this approach, dubbed RNA modification, works in a test tube. But carefully-directed nonsense suppression holds enormous promise for correcting many genetic diseases. Stay tuned!
June 12, 2011
Brandon Alspaugh is worried. He’s an interventional radiologic technologist at South University in Charlotte, NC, taking human genetics in preparation for physician’s assistant school. When he got to the end of my textbook, where I ask students to e-mail me their concerns, he wrote the following:
Coming from the medical field, I worry that personal genomics, while useful in terms of screening for genetic disease, will come to have the same effect as full-body CT scans, where the amount of noisy data generated will drown out the important bits. As with atypical anatomy, a person might spend a month chasing down a suspicious allele only to find it's a normal variant of a beneficial gene.”
Brandon’s describing a new breed of incidentaloma, looking for one sign of abnormality that turns up what could be another. I went in for a CT scan of my lungs, for example, and the doctor fretted over my polycystic liver. A friend had it much worse. She volunteered to be a control in an Alzheimer’s imaging trial, and her scan revealed two brain aneurysms!
The term “incidentaloma” was coined to describe an adrenal tumor (hence the "oma") found on a scan looking for something else. More recently, incidentalomas are arising as collateral damage from the sequencing of the human genome and the genetic testing it has spawned. We now have too much information, and too few people (genetic counselors) to translate what we do know.
The founding fathers (there were no mothers in the famed “amino acid club”) who deciphered the genetic code back in the 1960s would not have predicted genetic incidentalomas; surely all DNA was translated into protein. Over the years, the percentage fell, precipitously, so that now we know (or suspect) that a mere smidge under 2% of the genome actually encodes proteins – a little like a John Grisham novel in which much of the story turns out to be, if not irrelevant, then not central to the main story.
Genetics is about variation, not just disease, and I fear that because of this, a direct-to-consumer genetic testing company, anxious to spew as much information as possible at its clientele, could indeed impart a sequence or two that is innocuous, as Brandon the astute student suggests. And genetic incidentaloma-ism extends to well known protein-encoding genes. I saw this the day after I heard from Brandon, when a nurse-midwife at the practice where I provide genetic counseling called me, alarmed at a lab result for a patient.
“What’s SMN? The blood test results came back with a risk of 1 in 632 for SMA, based on SMN copy number. What’s that?”
If the nurse-midwife didn’t recognize it (and why would she?), I feared, the patient certainly wouldn’t. And so I explained that SMN is the gene “survival motor neuron” and various versions of it are implicated in the most common type of spinal muscular atrophy
),a recessive disease in the same general incidence ballpark as cystic fibrosis – 1 in 38 of us is a carrier. (I elected not to get into copy number variants, a recently-recognized form of mutation.)
I knew that more widespread testing for SMA was beginning because of pending legislation (The SMA Treatment Acceleration Act) “to authorize the Secretary of Health and Human Services to conduct activities to rapidly advance treatments for spinal muscular atrophy, neuromuscular disease, and other pediatric diseases, and for other purposes.” Some three dozen labs offer carrier testing at GeneTests.org
I also knew about SMA from a young hospice patient I’d visited in a nursing home. She was 7, a long-term survivor for this disease known as “baby ALS" that is usually fatal by age 3. (Also see Families of SMA
So should the midwife tell the patient, who must have signed something but likely has no idea her blood was tested for SMA, her carrier risk? Would the patient understand that the test indicates her risk is well BELOW that of the average person for something that she probably doesn't know exists? Does alerting and possibly alarming many people justify the additional SMA cases that screening might prevent by detecting potential parents who are both carriers? After all, this is the approach that has nearly vanquished Tay-Sachs disease. (See A Brief History of Genetic Testing
A slippery slope looms.
How far are we from personal genome scans that yield long lists of risks, some meaningful, some not? Who will develop the criteria for what is meaningful, for what a patient should know? Should a health care practitioner disclose ALL genetic information so as not to be paternalistic, or shield the patient from test results to “do no harm?” What happens when a genetic risk identified today declines with a future discovery? (Not everyone taps into 23andMe
on a daily basis to check for updates.) Or should a patient indeed be told absolutely everything, in case there is something he or she can do, environmentally speaking, to alter genetic destiny?
As with all matters scientific, the more we learn, the more we find out that we don’t know. It will be interesting to see how the impending avalanche of genetic incidentalomas plays out.
November 4, 2010
I love to roam among the posters at scientific meetings in search of research tidbits that the media miss. I just found a great one at the American Society of Human Genetics
conference that is certain to have profound implications for celebrities.
Among the many posters showing (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