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

Genetic Linkage

A 31-Gene Test to Predict Alzheimer’s

October 16, 2017

Tags: Alzheimer's disease, APOE4

When the direct-to-consumer genetic testing company 23andMe received FDA approval back in April to market a test for the e4 variant of the gene APOE, which is associated with elevated risk of developing late-onset Alzheimer’s disease, it gave people a possible peek into their futures.

About 15 percent of the population has one or two copies of the high-risk gene variant. For a long time the risk of developing Alzheimer’s for e4 double-dose individuals was 12 to 15 fold, but only 3 fold for those with one copy. Those figures have declined with re-analysis of the data.

A new 31-gene test can identify individuals at higher risk for the disease, including many who test okay for APOE e4. (Which stands for "apolipoprotein E epsilon 4 allele.")

A MORE POWERFUL TEST (more…)

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. (more…)

A Little Girl with Giant Axons, a Deranged Cytoskeleton, and Someday Gene Therapy

May 16, 2013

Tags: GAN, gene therapy, Alzheimer's disease, Parkinson's disease, The Forever Fix

Hannah, 7 years old (Dr. Wendy Josephs)
“When you hear hoof beats, think horses, not zebras.” So goes the mantra of first-year medical students. If a common disease is a horse and a rare disease a zebra, then giant axonal neuropathy (GAN), with only 50 or so recognized cases worldwide, is surely a unicorn.

Five years ago this week, 9-year-old Hannah Sames of Rexford, New York, who lives near me, received a diagnosis of GAN, a disease much like amyotrophic lateral sclerosis. And this month, thanks in part to the herculean fundraising efforts of Hannah's Hope Fund (HHF), the cover and lead article of the Journal of Clinical Investigation reveal most of the story behind the devastating inherited disease, with repercussions that will reach far beyond the tiny GAN community. (more…)

Jim Watson at International Congress of Human Genetics

October 11, 2011

Tags: James Watson, International Congress of Human Genetics, whole genome sequencing, ApoE4, American Society of Human Genetics, Kevin Davies, schizophrenia, $1, 000 Genome, Craig Venter, Alzheimer's disease, Myriad Genetics, BRCA1

Montreal, Oct. 11, 2011 -- James Watson joined a panel of “genome pioneers” at the opening session of the 12th International Congress of Human Genetics today. He was invited, besides his fame, because he was the second person to have his genome sequenced (Craig Venter was first), but his comments revealed that perhaps his most telling qualification is that he has a son who has schizophrenia. Known for his controversial views, Dr. Watson did not disappoint. (more…)

"Animals Containing Human Material" -- Welcome!

August 15, 2011

Tags: ACHM, animal welfare, animals containing human material, UK Academy of Medical Sciences, Ricki Lewis, The Forever Fix: Gene Therapy and the Boy Who Saved It, The Planet of the Apes, Rise of the Planet of the Apes, Asilomar, recombinant DNA research, IVF, in vitro fertilization, Louise Joy Brown, RFLPs, iPS, SNPs, Woody Allen, Jeff Goldblum, Irving Weissman, transgenic, gene targeting, Jackson lab, mouse model, Alzheimer's disease, neurall stem cells

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…)

instruction
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 11th edition, 12th to be published in September 2018.
Nonfiction
An ideal starting point for anyone who wants to know more about genes, DNA, genomes, and the genetic ties that bind us all.

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