NHGRI's Epigenetics Investments Starting to Pay Off

NHGRI's Epigenetics Investments Starting to Pay Off


Three years back, Bio-IT world published a story - Manolis Kellis, Epigenetics, and the Future of Fighting Disease

Manolis Kellis, professor of computer science at MIT, addressed the Bio-IT World Conference on efforts to revolutionize the study of human disease by bridging the gap between genetics and epigenetics.

Kellis uses genomic datasets to discover relationships between single nucleotide polymorphisms (SNPs) and epigenetic regulation. Previously, these data sets of genomic variation were used to derive associations between SNPs and specific diseases in so-called genome-wide association studies (GWAS). Kelliss research goes one step further. We wanted to find out what the molecular mechanism is for this association, he said.

Over the past five years, there has been an explosion of research on the statistical associations between specific SNPs and the likelihood an individual would get a disease. This paradigm led researchers to look for specific genes that caused a disease phenotype. The list of contributing genes for complex diseases, such as Crohns disease or type 2 diabetes, can run into the dozens, yet only explain a fraction of the heritability of the diseases.

What Kelliss research shows, though, is that diseases are actually caused by subtle contributions from a huge number of regulatory variants. If we rank all the SNPs based on the association with a disease, Kellis said, we find that there are not 10 or 20, but thousands of regions that weakly contribute to the disease.


Results from that research were published in early 2015.

Researchers generate a reference map of the human epigenome - Better understanding of epigenetic modifications could elucidate their role in human traits, diseases.

Reading Our Genome Is Tough, But Epigenetics Is Giving Us Valuable Clues

WHEN SCIENTISTS SEQUENCED the human genome a decade ago, they hoped to unlock the code of life, the sequence of molecules lined up in every cell that, summed together, made a person a personand possibly reveal new ways to understand and treat diseases. But the results turned out to be opaque. Biologist Eric Lander, who helped lead the effort, famously summed up the results in seven words: Genome: Bought the book; hard to read.

So the research community went looking for CliffsNotes. A decade ago scientists started looking into the epigenome, chemical modifications to DNA that tell cells which genes to turn on or turn off. This week that project got a huge data dump24 journal articles laying out what the genomicists know so far about 111 different cell types, the inner lives of brains, hearts, blood, and skin. It is giving us a view of the living, breathing genome in motion, as opposed to a static picture of DNA, says Manolis Kellis, a computational biologist at MIT who worked on three1 of the new papers.

Just about every cell in a human body has the same DNA, packaged into the same chromosomes. But cells differentiate, growing into different tissue types with different functions. The epigenome works through molecules like methyl and acetyl groups that wheedle their way into DNA, exposing different genes to the machinery that reads them and makes proteins. That helps control when or whether those proteins get made at all, and its also critical to that process of differentiation. In each cell type, it unravels just the right genes, says Brad Bernstein, a biologist at Harvard University. It unravels just the right switches.


Since then, the world had seen a boom of ‘convincing’ epigenetics studies explaining all kinds of human troubles. A few examples are given below.

Trauma Has Genetic Impact for Native Americans

Native American communities across the United States are struggling with poverty, alcoholism, high rates of diabetes, PTSD and depression. Historically, these issues have been attributed to systemic problems like racism that makes it challenging to leave the reservation, but recent research suggests the issues facing the Native American community run deeper than that. So much deeper, in fact, that theyre found within their genes, thanks to a fascinating pattern of genetic evolution and inheritance known as epigenetics.

The Holocaust is still traumatizing the children of survivors on a genetic level

World War II saw countless crimes against Jews. Millions were killed, and those who survived had their lives permanently scarred. But the harm may not have stopped there. A new study has found that the trauma experienced by Holocaust survivors caused genetic changes, which can be passed down to their children.

Epigenetic ‘tags’ linked to homosexuality in men

The biology of sexual orientation has been one of the most vexing and politically charged questions in human genetics. For the first time, researchers have found associations between homosexuality and markers attached to DNA that can be influenced by environmental factors.

Twin studies and family trees provide strong evidence that sexual orientation is at least partly genetic. When one identical twin is gay, there is about a 20% chance that the other will be as well1. But because this rate is not 100%, it is thought that environmental factors play a role as well. One of the best characterized is the ‘older brother effect’: the chance of a man being gay increases by 33% for each older brother he has2. The reason is not clear, although one hypothesis holds that the mothers immune system begins to react against male antigens and alter the fetuss development.

Doctors using epigenetics to treat migraines

One in four people suffer from migraine headaches and often they’re sent to their optometrist to see if the cause is vision related.

At Dr. Scott Sedlacek’s eye center in Olmsted Falls, OH he’s using epigenetics to get to the root cause of the headache.

XR Epigenetic testing is a cheek swap and a small blood sample.

It tells you what foods are right for your body chemistry but also what you’re missing.

Dr. Sedlacek has been offering this testing for the past three years.

“Most people are eating foods that are not thought to be bad, but they’re bad for them because we’re all so unique and individual,” Sedlacek said.

Dr. George Rozakis is a bioengineer and ophthalmologist.

“We have an astonishing rate of 97 percent success. We did a study in 34 patients. Thirty-three of the 34 had a profound improvement. They were all very difficult to treat migraine patients,” Rozakis said.

Rozakis says epigenetics is not new. It’s been studied for various health conditions, including ADHD, Autism and Lupus.

Moral of the story?

Central planning works.


Also check -

The Conspiracy of Epigenome?,

Epigenetics Explained, in the Context of Descendants of Holocaust and Slavery Victims

Written by M. //