Archive for April, 2007

One Gene Difference: Chihuahua Small to Great Dane Giant

Thursday, April 5th, 2007

I can’t help but blog about this, since Dog DNA seems to be such a popular dinner party topic. According to a study to be published tomorrow in Science, the genetic differences between dogs boils down to very little. In fact, just one gene, a “tiny bit of DNA that suppresses the insulin-like growth factor 1 (IGF-1) gene controls dogs’ size. (Try telling my stubborn giant dog that he’s just one gene away from a pug.)

The study’s lead author, Elaine A. Ostrander, is chief of cancer genetics at the National Human Genome Research Institute. Why is this gene exciting to her? Humans have the same gene suppressor, which is suspected of being involved in human dwarfism. Because the IGF-1 controls growth, it will further cancer research.

This isn’t the first time that dog genomic research has helped out humans, and no doubt it won’t be the last. Our trusted companions from hearth and home to laboratory bench….

Read the NY Times article

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Fast Facts About Mucolipidosis Type IV

Thursday, April 5th, 2007

Mucolipidosis IV (ML4) is a neurodegenerative disorder characterized by growth and developmental delays, progressive retinal degeneration, and crossed eyes. It has relatively high carrier rates in the Ashenazi Jewish community.

  • Most infants affected with ML4 develop symptoms within their first year of life, and most never speak, walk, or develop beyond the level of a 1–2 year old. Most people with ML4 usually live into adulthood.
  • About 1 in 100 to 1 in 127 people of Ashkenazi Jewish descent are ML4 carriers, which means they have one copy of the gene change that causes Mucolipidosis Type IV.
  • When two carriers have a child together, there is a 1 in 4 chance the child will have ML4. (See autosomal recessive inheritance)
  • Highly accurate carrier testing and prenatal diagnosis is available for ML4, both for families with a previous history of the disease and for all couples with Ashkenazi Jewish ancestry.
  • ML4 Resources: National MPS Society, Inc., ML4 Foundation

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What We’re Talking About This Week

Monday, April 2nd, 2007

Stalking Strangers’ DNA to Fill in the Family Tree: How far would you go to find out about distant relatives and common ancestry with strangers? Many of the situations described here seem a little, shall we say, outside the bounds of propriety and into the realm of CSI. Have we all been watching too much crime TV?

ACS Recommends Regular Breast MRIs for Women at High-Risk for Breast Cancer: Listen to Elizabeth Morris from Memorial Sloan Kettering discuss the new guidelines on NPR’s “Science Friday with Ira Flato“. Women should consider annual MRIs if they’ve got a strong family history, if they’re a BRCA mutation carrier, if they’ve had chest radiation treatments for conditions such as Hodgkin’s Disease. As a caller on this program points out, recommendations are inevitably two steps ahead of the medical establishment and insurance coverage. If you’re interested in pursuing MRIs, head to the big cities and major medical centers for radiologists who can perform and accurately read these MRIs. Now, to call my doc for a referral for an MRI…. (Update: Check out Emily DeVoto’s Antidote for counterspin on these recs.)

Chimeras: A New Kind of Twin: For the first time, researchers have identified twins that are identical on their mother’s side (same egg), but share only half of their father’s DNA (different sperm). Dr. Vivienne Souter, lead investigator in the journal article reporting this finding, says that while the term semi-identical provides some idea of how the twinning occurred, it is “an oversimplification.” I’ll bet! But I can’t wait to hear more.

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