New edition!!!

The Forever Fix gang: Corey Haas with book, surrounded by mom Nancy and dad Ethan Haas, Ricki Lewis on left next to Lori and Hannah Sames. At book signing 3/24/12, Barnes + Noble, Albany NY.


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

Genetic Linkage

Precision Medicine: Much More Than Just Genetics

September 25, 2015

Tags: Precision Medicine Initiative Cohort Program

When President Obama uttered the words “Precision Medicine” in the state-of-the-union address, I scoffed at a politician’s finally noticing a field that’s been around for decades: medical genetics. Was it another case of rebranding, as chemistry has morphed into nanotech? But the definition of Precision Medicine that has emerged is, well, precise: “An approach to disease treatment and prevention that seeks to maximize effectiveness by taking into account individual variability in genes, environment, and lifestyle.” (more…)

Tess's Tale: Social Media Catalyzes Rare Disease Diagnosis

September 17, 2015

Tags: rare diseases, Baylor College of Medicine, Tess Bigelow, Undiagnosed Diseases Network, NORD

Tess Bigelow
Attention to the plight of families with rare diseases continues to grow this week, providing a backdrop to another compelling tale of a family seeking a diagnosis for mysterious symptoms.

The National Human Genome Research Institute’s Undiagnosed Diseases Network (UDN) just announced the UDN Gateway. This online application portal will guide patients to a growing national network of clinical sites, including six new ones and two genome sequencing centers. The Gateway replaces paper-based application to specific clinical centers for the few coveted slots. (more…)

Targeting Cancer: A Basketful of Hope

September 14, 2015

Tags: cancer, precision medicine, basket study, José Baselga, melanoma, MATCH, BRAF, The Cancer Genome Atlas, Zelboraf

Basket studies allow researchers to evaluate considering a cancer's mutations in choosing treatment. (NHGRI)
Targeted treatments for cancer have been extending and saving lives for more than 15 years — precision medicine isn’t a new idea in oncology. Now drugs pioneered on select, specific cancers are, one by one, finding new applications.

The first wave of targeted drug approvals were for cancers associated with specific mutations. Herceptin (traztuzumab) led the way, approved in 1998. It’s a monoclonal antibody deployed against the HER2/neu receptor that is overabundant in some aggressive and early-onset breast cancers. Robert Bazell’s excellent book Her 2 tells the tale.

In 2001 came the blockbuster Gleevec (imatinib), a small molecule tyrosine kinase inhibitor that intercepts signals to divide. Erin Zammett’s My So-Called Normal Life with Cancer relates that story. A very young editor at Glamour magazine when a routine check-up revealed chronic myelogenous leukemia, Erin’s recovery was one of the first of thousands thanks to this now famous drug. (more…)

Disappearing Down Syndrome, Genetic Counseling, and Textbooks

August 13, 2015

Tags: Down syndrome, trisomy 21, genetic counseling, Art Caplan, Chloe's Law

Last week, several people sent me a perspective piece by bioethicist Art Caplan published in PLOS Biology, "Chloe’s Law: A Powerful Legislative Movement Challenging a Core Ethical Norm of Genetic Testing." The concise and compelling article considers legislation to mandate that genetic counselors talk to their patients more about positive aspects of having a child with trisomy 21 Down syndrome. (more…)

Gene Splicing in Lice and the Challenge of Clothing

August 6, 2015

Tags: lice, alternative splicing

A terrific article recently published in Molecular Biology and Evolution, “Alternative Splice in Alternative Lice,” provides a compelling example of maximizing genome information – adaptation of the louse Pediculus humanus to the new habitat created when our ancestors invented clothing.

Many parents encounter head lice when their children are sent home from school with instructions to get rid of the horrible rice-krispie-like eggs (“nits”) clinging to their scalp hairs. A good washing won’t do it. Medication and clunky combs do very little alone. The sooner the poor parent realizes that meticulous nit-picking is the only solution, the sooner the nightmare ends.

But consider the louse’s point of view.

Lice live on us so that they can drink our blood, with a little help from bacteria that provide the B vitamins needed to extract maximal nutrients from their meals. Head lice lay their eggs on our hair shafts, gluing them in place. These are the much more common variety. They don’t carry disease, and are mostly an annoyance. (more…)

“Saving Eliza” Campaign Helps Another Child

July 16, 2015

Tags: Sanfilippo syndrome, enzyme replacement therapy, gene therapy, Saving Eliza, MPS

5-year-old Will Byers got a spot in a clinical trial for his Sanfilippo syndrome thanks to the efforts of another family.
Valerie Byers had long suspected that her son Will’s diagnosis of autism was wrong. So when she saw a clip on the homepage of the Today Show about a little girl named Eliza, in late February, she knew instantly that five-year-old Will had something far worse. (more…)

Hannah's Hair: Why Traits Matter

July 9, 2015

Tags: GAN, giant axonal neuropathy, gene therapy

Hannah Sames, age 7 (Dr. Wendy Josephs)
It’s a rarely acknowledged law of nature that whatever the texture of a little girl’s hair, she wants the opposite.

For years I wrapped my tangles around soup cans and around my head, squished it under irons, and subjected it to stinky straighteners. I’d often succeed, only to venture outside and have the hated curls spring up and out anew.

Eleven-year-old Hannah Sames also relaxes her curls. In fact, the pale kinks were the first thing Hannah’s parents, Lori and Matt, noticed when she was born. “Their other daughters, Madison, five, and Reagan, two, had stick-straight hair, as do Lori and Matt. When the birthing goop had dried, Hannah’s curls were odder still, weirdly dull, like the ‘before’ photograph in an ad for a hair conditioner,” I wrote in my gene therapy book. A more recent story about a little girl with curly hair but straight-haired siblings and parents in the Times of India is remarkably similar. (more…)

Aicardi Syndrome: Genome Sequencing Illuminates Another Rare Disease

July 1, 2015

Tags: Aicardi syndrome, genome sequencing, rare diseases

As the number of sequenced human genomes climbs and the time to sequence a genome plummets, I find myself drawn more to the small stories, the incremental revelations that may affect only a few individuals.

A few weeks ago, a study published in Investigative Ophthalmology and Visual Science caught my attention. Researchers at the Translational Genomics Research Institute (TGen) in Phoenix used exome and genome sequencing to probe the origins of a condition I'd never heard of -- and the findings were surprising. (more…)

When Celebrities Suddenly Care About Rare Diseases

June 17, 2015

Tags: Batten disease, Charlotte and Gwenyth Gray, Taylor's Tale, Laura King Edwards

Sharon King, Laura King Edwards, and Taylor King -- and Hannah Montana
I have followed, in awe, the tireless efforts of families that have rare genetic diseases to raise awareness and funds.

Bake sales and bike races, balls and raffles, exhausting and all-consuming. But these efforts pale when a performer or other famous rich person suddenly and explosively steps up to support such a disease, solely because someone they know has just been diagnosed. As if dozens of families haven’t already been trying to fund clinical trials for years. Last summer’s "ice bucket challenge" was the epitome of the power of viral social media, with the message about ALS lost in the excitement.

When celebrities suddenly care about rare diseases, I wonder what my friends in the rare disease community think. They’re happy, of course, at the attention, yet perhaps a bit unglued by the power of the famous – but maybe afraid to say so.

That happened recently for Batten disease, a devastating group of brain disorders that strike in childhood. One family isn’t afraid to speak out.

Two years ago my blog DNA Science gave a voice to Laura King Edwards, who has been running races in all 50 states in honor of her 16-year-old sister Taylor, who has Batten disease. Laura updated a year ago.

This year, she and her mother Sharon King share their thoughts about last week’s avalanche of concern for the disease that is taking Taylor away. (more…)

Can We Cure Huntington’s Disease?

May 27, 2015

Tags: Huntington's disease, Lisa Genova, Inside the O'Briens

I didn’t cry until page 123 of Lisa Genova’s terrific new novel "Inside the O'Briens". That’s when 44-year-old Boston police officer Joe O’Brien calmly explains to his four young adult offspring that his “weird temper”; his frequent toe-tapping, shoulder-shifting, and eyebrow lifting; and his inability to sequence the events in a routine crime report, are all due to Huntington’s disease (HD).

As a boy, Joe believed the neighborhood talk that his institutionalized mother was an alcoholic. He remembers his skeletal, writhing, grimacing and grunting mother as a monster, not as someone suffering from a neurological disease only trying to say “I love you” to her terrified son. (more…)

Selected Works

blog posts
An annotated table of topics and textbook chapter #s for my DNA Science blog posts at Public Library of Science.
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 10th edition.
DNA reflects who we are -- but it isn’t the whole story.

Quick Links