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Genetic Linkage

Can We Cure Huntington’s Disease?

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!

(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

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

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 descriptionRead More 
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The Man Who Ate 25 Eggs a Day

Cholesterol isn't the enemy -- triglycerides are.
Each morning at the retirement community, the healthy 88-year-old man received a delivery of 25 soft-boiled eggs, which he would consume during his day. This had been his way for many years. He’d had one experience of chest pain that might have been angina, but aside from that, he had a healthy cardiovascular system. He recognized that his only problem was psychological: “Eating these eggs ruins my life, but I can’t help it.”

I think of the Eggman, a brief case report from 1991 in the New England Journal of Medicine, whenever "news" of cholesterol’s unsuitability as a one-size-fits-all biomarker resurfaces, as it does every few years and did again a few weeks agoRead More 
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Using the Genetic Code for Passwords

Many years ago, a friend was helping me set up a desktop computer. When the time came to choose a password, he said it should be:

• Alphanumeric
• More than 7 numbers or letters
• Obvious to me, but not to anyone else

The genetic code popped into my mind, and has remained an endless source of diverse passwords, valuable because they may seem nonsensical to non-biologists.  Read More 
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When Mutation Counters Infection: From Sickle Cell to Ebola

Balanced polymorphism retains mutant genes in populations when they protect against other conditions.
While pharmaceutical companies focus on drug discovery for Ebola virus disease, a powerful clue is coming from a rare “Jewish genetic disease” that destroys the brain. People with Niemann-Pick C1 disease can’t get Ebola, adding to the list of disease pairs that arise from a fascinating form of natural selection.

Balanced polymorphism, aka heterozygote advantage, is a terrific illustration of ongoing evolution. And it pits the human body against all sorts of invaders – prions, viruses, bacteria, protozoa, and fungi. Read More 
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Eman Reports from Ebola Ground Zero

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.  Read More 
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Eman’s Emails from Liberia: Through September

Emmanuel Gokpolu with his son, little Larry
Emmanuel Gokpolu, who lives in Liberia, calls me Mom, although he has a wonderful real mother. In Africa, family isn’t only about DNA.

Eman contacted me in 2007, after using my human genetics textbook in college. My husband Larry and I had been putting him through medical school in Monrovia -- until Ebola happened. Now the funds go for gloves, long sleeve shirts, detergents, food and medicine, to keep Eman and his family, including his almost-one-year-old son, Larry, safe.

This week Eman asked me to share his emails, which began arriving before many people here had heard of Ebola virus disease, or cared much about it if they had. The disease seemed, and was, half a world away.

The world is a small place. Read More 
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SCID-X1 Gene Therapy, Take 2

David Vetter had SCID-X1 and became known as the bubble boy. (NASA)
Beneath all the bad news about viruses this week lies a good virus: the one that underlies gene therapy for X-linked severe combined immunodeficiency (SCID-X1),

Altered viruses are the vehicles that transfer healthy human genes into the cells of people in whom the genes aren’t working, providing a slew of new “forever fixes.” Nearly 100 gene transfer protocols are now in late-stage clinical trials. Read More 
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