Showing posts with label genetics. Show all posts
Showing posts with label genetics. Show all posts

Wednesday, October 7, 2026

If You Think 23AndMe is Just for Personal Curiosity

 Dear Clayton,


Thank you for helping us make discoveries together.

Working with researchers at Dana-Farber Cancer Institute, we found that people carrying a rare inherited genetic variant called EGFR T790M had roughly 25 times higher odds of developing lung cancer. That is equal to or higher than well-established inherited cancer risk variants such as those in the BRCA1 and BRCA2 genes for breast and ovarian cancer.

These findings were recently published in the journal Science, in a peer-reviewed study titled 'Germline EGFR T790M mutation and lung cancer risk.' You can read the paper here.

Many people believe exposure to tobacco smoke is the only risk factor for lung cancer, but tens of thousands of Americans without this risk factor are diagnosed each year. For many people the question of why has had no good answer. This study is a step toward one.

What we discovered together:

•  Researchers identified EGFR T790M as the largest known single genetic risk factor for lung cancer. This could have important implications for genetic testing and future lung cancer screening strategies for people who carry the variant.

•  More common than anyone knew. Among more than 10 million research participants, 641 carried the variant. It remains rare, but that is about ten times more common than public genetic databases had reported.

•  Specific to lung cancer. Often genetic variants that dramatically increase the risk of one cancer also increase the risk of other cancers, but for people with the EGFR T790M variant there were no significant associations with other frequent cancers, such as breast, prostate or colorectal cancer. This finding could help people with this variant know the specific, targeted screening they may need.

•  A window into American history. By combining genetics with ancestry and geography, our researchers traced the variant to British and Irish settlers who migrated to the Southeastern United States. Regional expansion and demographic isolation led to a founder effect, where a small group is genetically separated from a larger population, in the Southern Appalachian region, making the variant far more common among their descendants. Participants with Southern U.S. ancestry were about six times more likely to carry this variant. This is a striking example of how our ancestors' origins can remain relevant to our health generations later.

Data analyzed in the study includes participants in the Lung Cancer Genetics Study, which is funded by the Susan Wojcicki Foundation and powered by the 23andMe Research Institute in collaboration with 22 lung cancer advocacy organizations. To learn more about the study, our collaborators, and eligibility criteria, visit the study landing page.

This kind of research is only possible at scale. By answering our research surveys, you help make discoveries like this possible. On behalf of the 23andMe Research Institute, thank you for being part of this journey.     

Monday, May 1, 2017

Epigenetics: Lamarckianism for SJWs?

Somewhere in biology classes you learned about Lamarck, a predecessor to Darwin in evolutionary thought.  Lamarck explained the long necks of giraffes as the result of their distant ancestors stretching their necks for the tops of trees, and passing those long necks to their offspring.  Obviously impossible because those are acquired traits after the DNA has set.

So imagine my surprise to find out that the trauma of the Holocaust causes survivors to have genetic predisposition to stress and nightmares.
Some children of Holocaust survivors have terrible nightmares in which they are chased, persecuted, tortured or annihilated, as if they were re-living the Second World War over and over again. At these times, they suffer from debilitating anxiety and depression which reduce their ability to cope with stress and adversely impact their occupational and social function. It seems that these individuals, who are now adults, somehow have absorbed the repressed and insufficiently worked-through Holocaust trauma of their parents, as if they have actually inherited the unconscious minds of their parents.
Now it can't be that their parents have told them of their trauma or exposure to films and literature about the Holocaust, can it?  This modern Lamarckianism is explicitly acknowledged by the author:
More than two centuries ago, the founder of evolution, Jean-Baptiste Lamarck, suggested that acquired characteristics may be transmitted from one generation to another. Ever since, evolutionary developmental biology has continued to study this assumption. Recent advances in the field of epigenetics are now revealing a molecular basis for how heritable information other than DNA sequence can influence gene function...
Epigenetics is typically defined as the study of heritable changes in gene expression that are not due to changes in the underlying DNA sequence. Such heritable changes in gene expression often occur as a result of environmental stress or major emotional trauma and would then leave certain marks on the chemical coating, or methylation, of the chromosomes (13). The coating becomes a sort of “memory” of the cell and since all cells in our body carry this kind of memory, it becomes a constant physical reminder of past events, our own and those of our parents, grandparents and beyond. “The body keeps the score” (14), not only in the first generation of trauma survivors, but possibly also in subsequent ones. Because of their neurobiological susceptibility to stress, children of Holocaust survivors may thus easily imagine the physical suffering of their parents and almost “remember” the hunger, the frozen limbs, the smell of burned bodies and the sounds that made them scared.
 Now, it should be obvious that this isn't about the Jews, but about how slavery (150 years later) is still the cause of the problems in black ghetto culture today, not the devastating effects of the Great Society in destroying incentives for family stability.  This 4/30/17 Haaretz  article acnowledges:
Children of Holocaust survivors may suffer depression and anxiety: but its source cannot be ascertained. In theory, hearing horrific stories in childhood could influence the development of anxiety and depression in adulthood. How do we know if horrific stories or epigenetics caused the anxiety or depression? There is no way to tease out the influence of either.
Indeed, some leading researchers in the field of epigenetics have grave reservations about Yehuda’s interpretation of her data. Foremost among them is John Greally, professor of genetics and pediatrics at the Center for Epigenomics at Albert Einstein College of Medicine in the Bronx, New York. In a blog post published a few days after the Guardian story, Greally termed Yehuda’s research the “over-interpreted epigenetics study of the week.”
read more: http://www.haaretz.com/science-and-health/.premium-1.786465