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Ricki Lewis

Genetic Linkage

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. Read More 
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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.

HEAD VS BODY LICE
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.  Read More 
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“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.  Read More 
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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. Read More 
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Aicardi Syndrome: Genome Sequencing Illuminates Another Rare Disease

July 1, 2015
Tags: Aicardi syndrome, genome sequencing, rare diseases
(NHGRI)
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. Read More 
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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.  Read More 
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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. Read More 
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Gene Therapy for Blindness Works!

May 4, 2015
Tags: gene therapy, RPE65-associate Leber's congenital amaurosis
(NHGRI)
I fear that news out today about gene therapy to treat a form of childhood blindness will be unnecessarily negative. Because I wrote a book about this treatment, “The Forever Fix: Gene Therapy and the Boy Who Saved It” and am Facebook friends with many affected families, I want to add context to the news coverage. Read More 
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Autism Gene Discovery Recalls Alzheimer’s and BRCA1 Stories

March 26, 2015
Tags: Autism, Alzheimer's disease, BRCA1 breast cancer
Discovery of a new gene behind autism cleverly combines genetic techniques new and classic.

Autism has been difficult to characterize genetically. It is probably a common endpoint for many genotypes, and is a multifactorial (“complex”) trait. That is, hundreds of genes contribute risk to different degrees, as do environmental factors. Research reports implicate either dozens of genes in genomewide sweeps, or focus on a few genes that encode proteins that act at synapses, such as the < href="https://www.autismspeaks.org/science/grants/neuroligins-and-neurexins-autism-candidate-genes-study-their-association-synaptic-con">neuroligins and neurexins. Read More 
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CRISPR Meets iPS: Technologies Converge to Tackle Sickle Cell Disease

March 15, 2015
Tags: CRISPR, iPS, sickle cell disease, genome editing
Researchers from Johns Hopkins University have teamed two powerful technologies to correct sickle cell disease in a lab dish. Linzhao Cheng and colleagues have deployed CRISPR/Cas-9 on iPS cells to replace the mutant beta globin gene, published in Stem Cells.

ACRONYMS AND ABBREVIATIONS

CRISPR conjures up images of fried chicken, but it stands for “clustered regularly interspaced short palindromic repeats” – short repeated DNA sequences interspersed with areas called spacers, like stutters. The pattern of repeats and spaces attracts an enzyme, Cas9, which is like a molecular scissors that cuts wherever short RNA molecules called “guide RNAs” take it. Here’s a fuller description. Read More 
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