Category Archives: Gene Medicine

March 6, 2017

A sweeping international effort is connecting the dots between genes in our fat cells and our risk for obesity and cardiometabolic diseases such as heart disease and type 2 diabetes. The researchers have identified approximately 90 genes found in fat that could play important roles in such diseases - and could be targeted to develop new treatments or cures.

Unlike many genetics studies, the huge project looked at how genes' activity actually manifests in human patients - in this case, 770 Finnish men. The results will help doctors and scientists better understand how normal gene variations can affect individuals' health and risk for disease.

"There are a lot of regions in our genomes that are associated with increased risk for, let's say, type 2 diabetes. But we don't always understand what's happening in these regions," said Mete Civelek, PhD, of the University of Virginia School of Medicine. "This study actually addresses some of those questions."

Gene Effects on Health

The men used in the study have had their health histories, body composition, blood work and other wellness factors recorded in astoundingly complete detail - Civelek called them "one of the very few extremely well characterized populations in the world." The precise documentation allowed the researchers to draw conclusions about the effects of gene variations that naturally occur in subcutaneous fat. "Type 2 diabetes, coronary artery disease and obesity are multifactorial and complex diseases," Civelek said. "Genetic factors do not work in isolation - they work in a holistic way, so I think that these kind of studies that we are publishing are key to understanding what's happening in human populations."

That understanding could translate into better treatments for cardiometabolic diseases that pose a tremendous public health threat. Heart disease, for example, is the No. 1 killer in the United States. "Maybe by looking at these other markers we will be able to predict someone's risk much better, so that, for example, they can modify their diet or lifestyle even before type 2 diabetes develops," Civelek said. "Or let's say type 2 diabetes has already developed. We might be able to target some of these novel genes as a potential cure."

DNA in 3D

The project helps advance a more sophisticated - and three-dimensional - view of our DNA. Typically, people think of DNA as long, neat strands, laid out like a stretched string. But in reality, the strands are clumped together inside cells like spaghetti. Genes that appear far away from each other when viewed linearly actually may be quite close when DNA is balled up inside the cell. That physical proximity affects what they do.

"For a lot of cases, what we found was that these different genomic regions actually affect gene expression in a far-away locus, not necessarily the immediate neighborhood," he said. "That's because the DNA is compacted and there's a three-dimensional structure. [Genes] can actually come together in three-dimensional space and can affect each other."

That can have big implications for understanding what genes are doing. "We're saying that it may be the gene that we thought was causing a phenomenon is not," Civelek said. "There may actually be another gene at work that is a little bit farther away."

Civelek, of UVA's Department of Biomedical Engineering, is already hard at work on a follow-up to the project, examining a potential "master switch" that may be regulating the activity of many different genes associated with obesity, HDL (or "good") cholesterol level and risk for type 2 diabetes.

Findings Published

The effort included researchers from UVA; the University of North Carolina at Chapel Hill; the University of California, Los Angeles; Bristol-Myers Squibb; the University of Eastern Finland; the University of Michigan, Ann Arbor; the National Institutes of Health's National Human Genome Research Institute; and King's College London. Their findings have been published in the American Journal of Human Genetics.

Explore further: Gene variants associated with body shape increase risk of heart disease, type 2 diabetes

More information: Mete Civelek et al, Genetic Regulation of Adipose Gene Expression and Cardio-Metabolic Traits, The American Journal of Human Genetics (2017). DOI: 10.1016/j.ajhg.2017.01.027

Journal reference: American Journal of Human Genetics

Provided by: University of Virginia Health System

A study from Massachusetts General Hospital (MGH) researchers has found that a pattern of gene variants associated with an "apple-shaped" body type, in which weight is deposited around the abdomen, rather than in the hips ...

New research from The University of Manchester and the Brabraham Institute has revealed how gaps between genes interact to influence the risk of acquiring diseases such as arthritis and type 1 diabetes.

New findings into how type 1 diabetes disrupts the immune system and impacts a person's risk of developing the condition have been uncovered by a team of researchers from the Harry Perkins Institute of Medical Research ...

Alternative splicing of obesity and type 2 diabetes related genes may contribute to the pathophysiology of obesity, according to research from the University of Eastern Finland. Obesity leads to changes in the splicing pattern ...

The genes that increase the risk of Type 1 diabetes have lost their hiding place. A research group that includes a University of Florida genetics expert has located and narrowed down the number of genes that play a role in ...

(Medical Xpress) -- Ten more DNA regions linked to type 2 diabetes have been discovered by an international team of researchers, bringing the total to over 60.

The age at which girls start menstruating could flag a later risk of diabetes during pregnancy, according to a University of Queensland study

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A diet designed to imitate the effects of fasting appears to reverse diabetes by reprogramming cells, a new USC-led study shows.

(Medical Xpress)A team of researchers with members from several institutions in Germany and one in the U.K. has discovered what might be a way to tell if a newborn child is likely to develop type 1 diabetes as they grow ...

People with diabetes are at high risk of developing heart disease. Despite knowing this, scientists have struggled to trace the specific biology behind that risk or find ways to intervene. Now, UNC School of Medicine researchers ...

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Study IDs 90 genes in fat that may contribute to dangerous diseases - Medical Xpress

Optogenetics From Wikipedia, the free encyclopedia Optogenetics (from Greek optiks], meaning seen, visible) is a biological technique which involves the use of light to control cells in living tissue, typically neurons, that have been genetically modified to express light-sensitive ion channels. It is a neuromodulation method employed in neuroscience that uses a combination of techniques from optics and genetics to control and monitor the activities of individual neurons in living tissueeven within freely-moving animalsand to precisely measure the effects of those manipulations in real-time.[1] The key reagents used in optogenetics Read more

GeneQuine develops drugs that are based on gene therapy. The concept of gene therapy is to introduce genetic material into the patients own cells in the body. The cells produce then a therapeutic protein according to the template that the introduced genetic material (DNA) provides

GeneQuine is focused on the development of gene therapy agents for the treatment of osteoarthritis. Osteoarthritis is a degenerative joint disorder characterized by cartilage loss and inflammation. Patients affected by osteoarthritis experience joint pain as well as swelling and stiffness of the joints leading to Read more

Genome Editing with CRISPR-Cas9

Heres a short list of some common diseases that might be curable or preventable with gene editing:

Autism Breast cancer Colon cancer Hemophilia Huntingtons disease Marfan, Parkinsons Prostate cancer Retinitis pigmentosa Sickle cell Skin cancer Tay-Sachs Wilson Duchenne muscular dystrophy Crohns Color blindness Cystic fibrosis Down syndrome Polycystic kidney Turner syndrome.

There are hundreds of other more rare genetic disorders. Read more

Gene therapy is a well-suited approach for the treatment of SMA due to the monogenic nature of the diseasemeaning its caused by the deletion of or mutations in a single gene. AVXS-101 is our clinical-stage, proprietary gene therapy candidate of a one-time, intravenous treatment for SMA Type 1designed to prevent further muscle degeneration caused by SMA through:

Delivery of a fully functional human SMN gene into target motor neuron cells Production of sufficient levels of SMN protein required to improve motor neuron function Rapid onset of effect in addition to Read more

Advantagene Inc. Bluebird Bio Genethon Human Stem Cells Institute Oxford BioMedica Plc Sanofi Shanghai Sunway Biotech Co. Ltd. Sibiono GeneTech Co. Ltd. Spark Therapeutics, LLC UniQure N.V. Vical Inc. ViroMed Co. Ltd. dba VM BioPharma Read more

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RNAi.technology - RNAi Medicine, RNAi Developments, Gene ...

Should scientists be allowed to dive deep into an embryos DNA and dig out an inheritable disease?

Should parents be allowed to tweak an unborn childs genes to make their child tall or athletic or smart?

And what would be the consequences of all this on human evolution?

Those are some of the questions facing the medical community and society in general as limited experiments begin in the United States on human embryo gene editing.

An advisory group formed by the National Academy of Sciences and National Academy of Medicine recommended last month that this kind of research should begin.

However, the panel said it should only be done in rare cases where there is no alternative to preventing a baby from acquiring a serious disease or disability.

Read more: Scientists finding gene editing with CRISPR hard to resist

Research on editing the genes of human embryos is already underway in China and Sweden.

Clinical trials using gene editing to treat noninheritable conditions are already set to start in the United States.

However, editing out inheritable ones like Huntington disease, cystic fibrosis, or Alzheimers disease from the genes of human embryos is a bigger undertaking, both scientifically and ethically.

Such editing could eliminate the risk of the disease for the embryos as well as eliminate these conditions for any offspring the embryos might produce as an adult.

But experts say that germline editing could cause unintended, permanent effects on human evolution.

It also could open up the ability to edit embryos for enhanced physical or mental characteristics, creating so-called designer babies.

In the past year, new, cheaper technologies particularly the adoption of the more precise gene editing tool CRISPR-Cas9 have made it more likely researchers will actually succeed at editing human embryos.

That makes the debate over these concerns no longer hypothetical.

The technology could save millions of lives.

Or it could lead to an ever-growing divide between those who can afford to pay for enhanced medical treatments and those who cant.

Read more: CRISPR gene technology gets approval for cancer treatment

Lets say you and your partner both have cystic fibrosis with the same mutations.

But you want to have a child who doesnt have the disease.

Genetic editing could be the answer.

Such embryonic manipulation would involve a small number of couples with specific conditions and preferences and lack of alternatives.

But, as University of Manchester Bioethicist John Harris told National Geographic, if suffering and death can be averted by this research the decision to delay such research should not be made lightly. Just as justice delayed is justice denied, so, too, therapy delayed is therapy denied. That denial costs human lives, day after day.

For most couples, there would be other options available, points out Marcy Darnovsky, PhD, director of the Center for Genetics and Society in California.

Some might be able to use an egg or sperm donor or screen embryos with preimplantation genetic diagnosis in a fertility clinic.

There is also the question of what this research will mean not just for our health but for our perceptions of society.

If we can do away with a disease like cystic fibrosis, for instance, how will that affect how we view and treat those who still have it?

What will we be saying about who is healthy and who isnt?

Its a way of setting a bar about what kinds of people should be born, Darnovsky told Healthline. There are concerns about stigmatizing conditions and reducing the social supports of people who do live with those conditions.

Read more: Gene editing could be used to battle mosquito-borne diseases

All these implications are years or even decades away.

The research that will happen in the near term is more about improving the technology, not modifying embryos intended to be gestated and born.

That germline editing, in fact, is not allowed because of a prohibition on using federal funds to review research in which a human embryo is intentionally created or modified to include a heritable genetic modification.

In addition, the advisory panels report states that the technology is not ready for human trials.

But it also said using it to edit the precursors of humans embryos, eggs, sperm could soon be a realistic possibility that deserves serious consideration.

For now, someone who is interested in one day benefiting from embryo editing should undergo carrier testing to see if and how much they are at risk of passing on a heritable disease.

Go through your [doctor], not one of those companies where you send off your spit in a vial, said Darnovsky.

She said physicians have the time, training, and resources to make sure youre fully informed about any conditions or decisions youll have to make.

In addition, they can also keep you updated on new technologies and ethical quandaries as they emerge.

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The Multitude of Issues Surrounding Human Embryo Gene Editing - Healthline

One of the earliest widespread applications of precision medicine in cancer care is helping patients and physicians decide whether chemotherapy is needed, a new study finds.

Researchers reviewed a test that assesses the risk of breast cancer recurrence and whether chemotherapy is likely to help lower that risk in women with early stage disease.

The test looks at 21 genes known to increase risk of cancer recurrence. The idea is to avoid chemotherapy in women at such low risk that they arent likely to benefit from it and to ensure chemotherapy is recommended for women with higher risk.

Researchers surveyed 1,527 women with early stage breast cancer, noting whether they received the 21-gene recurrence score assay test and whether they subsequently received chemotherapy.

Currently, cancer care guidelines recommend the test for women with specific tumor features whose cancer has not spread to surrounding lymph nodes.

The study, published in Cancer, showed that most doctors recommended the test in line with these guidelines, though 13 percent of women with cancer in their lymph nodes still received the test.

Current guidelines typically recommend that these women should always receive chemotherapy, and therefore do not need the test. An ongoing clinical trial is looking at the value of the test for this group.

Among patients who had the test, the results aligned with the decision for or against chemotherapy: 87 percent of patients with a high score had chemotherapy.

For patients with the most favorable prognosis and the lowest test scores, only 3 percent received chemotherapy, compared to 13 percent of women who did not have the gene assay test but had a favorable prognosis.

An area of opportunity

Most patients accurately recalled receiving the test the researchers used registry and laboratory data to confirm that.

Nearly two-thirds thought the test was helpful, saying that their results helped shift their opinion for or against chemotherapy. Patients reported high satisfaction with their treatment choice.

Based on the diverse sample of patients, the researchers found that race or ethnicity did not play a role in the use of the recurrence score assay or in chemotherapy recommendations.

Although most examples of precision medicine involve clinical trials, the recurrence gene assay shows how precision medicine can be used in everyday clinical care.

Overall, the study shows use of the test, treatment recommendations and satisfaction all align. But the researchers note one opportunity.

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News source:Michigan Health. The content is edited for length and style purposes. Figure legend: This Knowridge.com image is credited to Michigan Health.

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Precision medicine test for breast cancer helps guide chemotherapy decisions - Knowridge Science Report

Forbes

Sex, Gene Editing, And Electronic Dance Music: How To Teach Entrepreneurship In Biotechnology Part 1 Forbes Next: a recent piece by Derek Lowe on the failure of Merck's BACE inhibitor for Alzheimer's, and last week I told the students to read up on and be prepared to venture pitch Editas Medicine (EDIT). During sessions 5 and 6, none of the assignments was ...

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Sex, Gene Editing, And Electronic Dance Music: How To Teach Entrepreneurship In Biotechnology Part 1 - Forbes

A French teen who underwent a first-of-its-kind procedure 15 months ago to change his DNA shows no signs of the sickle cell disease he had been suffering from. The procedure, which was performed at Necker Childrens Hospital in Paris, may offer hope to millions of patients who suffer from sickle cell disease, BBC News reported.

Sickle cell disease is a severe hereditary form of anemia, which causes patients to develop abnormal hemoglobin in red blood cells. The botched hemoglobin causes the cells to form a crescent or sickle shape, making it difficult to maneuver throughout the body. Sickle-shaped cells are less flexible, and may get stuck to vessel walls causing a blockage, which can stop blood flow to vital tissues.

Before undergoing the procedure, treatment for the unidentified teen included traveling to the hospital each month for a blood transfusion to dilute the defective blood, BBC News reported. According to the report, the excessive amount of treatment caused severe internal damage, and at age 13 he already needed a hip replacement and had his spleen removed.

In a world first, doctors at Necker Childrens Hospital removed his bone marrow and genetically altered it using a virus to compensate for the defect in his DNA responsible for sickle cell disease, BBC News reported. The results published in the New England Journal of Medicine said he no longer uses medication, and has been making normal blood for the past 15 months.

So far the patient has no sign of the disease, no pain, no hospitalization, Philippe Leboulch, professor of medicine at the University of Paris, told BBC News. He no longer requires a transfusion so we are quite pleased with that.

Doctors said the treatment will have to be repeated in other patients as the teen is the trials first, but that it does show powerful potential.

Ive worked in gene therapy for a long time and we make small steps and know theres years more work, Dr. Deborah Gill, of the gene medicine research group at the University of Oxford, told BBC News. But here you have someone who has received gene therapy and has complete clinical remission thats a huge step forward.

It was not clear how much the procedure would cost, or whether there are plans to expand to other countries.

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Doctors reverse teen's sickle cell disease with innovative gene therapy - Fox News

Days after reportedly taking a stake in Bristol-Myers Squibb, Carl C. Icahn signaled an even greater role as an activist investor in biopharma through the hiring of Richard C. Mulligan, Ph.D., as a portfolio manager.

Dr. Mulligan will focus on biotechnology investments for two Icahn limited partnerships, Icahn Partners and Icahn Partners Master Fund, the private investment funds comprising Icahn Enterprises' Investment segment.

"We are very pleased to have Richard join Icahn Capital given the depth and level of experience he brings as we look to enhance our focus on the biotechnology sector," Icahn, the chairman of Icahn Enterprises, said in a statement earlier this week.

Dr. Mulligan is the Mallinckrodt Professor of Genetics, Emeritus at Harvard Medical School (HMS) and visiting scientist at the Koch Institute for Integrative Cancer Research at MIT. He is also a pioneer in the development of new technologies for transferring genes into mammalian cells. A major interest in Dr. Mulligan's laboratory has been the development of genetically engineered animal viruses as gene transfer vectors.

In addition to serving as full Mallinckrodt professor at HMS, he previously served as director of the Harvard Gene Therapy Initiative, a collaboration by basic science and clinical investigators at Harvard University and its affiliated hospitals focused on preclinical and clinical evaluation of novel gene-based therapies for inherited and acquired diseases.

From 2013 to last year, Dr. Mulligan was founding partner and senior managing director of Sarissa Capital Management. Sarissaled by another biopharma-focused activist investor, Alex Dennerspearheaded the successful effort in 2015 to drive Harvey J. Berger, M.D., into retirement from the helm of Ariad Pharmaceuticals, the cancer drug developer that he founded in 1991 and is being acquired by Takeda Pharmaceutical for $5.2 billion.

Dr. Mulligan is a member of Biogens board and has previously served as a director, scientific advisory board member, or officer for numerous public biopharma companies, including Cell Genesys, Cellectis, Enzon, Somatix Therapy, and ImClone. ImClone was acquired by Eli Lilly for $6.5 billion in 2008, 2 years after Icahn acquired a majority of the companys stock.

Dr. Mulligan was also a consultant to Amgen, DuPont, and the Genetics Institute. He previously served on the NIHs Recombinant DNA Advisory Committee, which provides guidance to the agency about experiments involving recombinant DNA, and the FDA Biological Response Modifiers Advisory Committee, which advises the FDA on matters related to cell and gene therapies, including stem cell-based technologies.

He received his B.S. degree from MIT and his Ph.D. from the department of biochemistry at Stanford University School of Medicine, where he studied under Nobel Laureate Paul Berg, Ph.D.

After receiving postdoctoral training at the Center for Cancer Research at MIT with Nobel Laureates David Baltimore, Ph.D., and Phillip Sharp, Ph.D., Dr. Mulligan joined the MIT faculty and was appointed Professor of Molecular Biology and Member of the Whitehead Institute for Biomedical Research before moving to Harvard and Children's Hospital in 1996.

His honors include the MacArthur Foundation "Genius" Prize, the Rhodes Memorial Award of the American Association for Cancer Research, the ASMB-Amgen Award, and the Nagai Foundation International Prize.

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Icahn Names Gene Transfer Pioneer as Portfolio Manager - Genetic Engineering & Biotechnology News

MedCity News

Invitae CEO wants to democratize genetic testing MedCity News We are in the early days of precision medicine but it is on the back of widespread gene testing that promise of this approach of treating diseases stands. And there are plenty of companies offering some kind of gene testing on the tumor DNA ...

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Invitae CEO wants to democratize genetic testing - MedCity News

March 3, 2017

Sanford Health, one of the largest health systems in the country, is partnering with the flagship hospital of the Miami Children's Health System to sequence the genes of nearly 1,000 Latinos and Hispanics in order to better understand the health needs of the populations.

Philanthropist Denny Sanford and Sanford Health have given $7 million to the Nicklaus Children's Hospital initiative in Miami, Florida, to support the research, which uses genetic and genomic information to personalize health carein this case, for children.

Golfing great Jack Nicklaus, for whom the hospital is named, said he recently approached his friend, Denny Sanford, and asked for help with the project.

"When we approached Denny with a plea to assist our important work at Nicklaus Children's Hospital and through our Foundation, he was quick to open his heart and lend a hand," Nicklaus said in a statement.

The sequencing project will make it easier to determine whether a person is predisposed to a certain disease, or how he or she might respond to a particular medicine. The initiative will help build a database of common genomes and identify genetic patterns among Hispanic and Latino populations.

MCHS is South Florida's only health care system exclusively for children and includes the nonprofit Nicklaus Children's Hospital.

Sanford Health, which is the largest employer based in the Dakotas with 28,000 workers, has 45 hospitals and nearly 300 clinics in nine states and four countries. Sanford Health CEO Kelby Krabbenhoft said the partnership will help Sanford diversify its work and research with genomic medicine.

Explore further: Stem cell therapy trial at Sanford first of its kind in US for shoulder injuries

2017 The Associated Press. All rights reserved.

The first FDA-approved clinical trial of its kind in the United States using a person's own fat-derived adult stem cells to treat shoulder injuries is available at Sanford Health.

A 9-day-old baby who suffered a normally fatal stroke was saved after a Sanford Health cerebrovascular neurosurgeon removed the clot by combining mechanical and medicinal therapies. The unique case, completed by Alexander ...

Genetic profiling of cancer tumors provides new avenues for treatment of the disease, according to a study conducted by Sanford Health and recognized by the American Society of Clinical Oncology.

(HealthDay)Sick children from rural areas in the United States have more complex medical problems and cost more to treat than urban or suburban kids, a new hospital study finds.

A drug that blocks neurotransmitters could reduce nausea and vomiting caused by chemotherapy, research co-authored by a Sanford Health physician and published in the New England Journal of Medicine finds.

Snoring can be a normal symptom of a cold or virus in children. But when snoring persists and children have difficulty sleeping, parents should take their children to a doctor to look for signs of more serious conditions.

A condition forcing people to involuntarily mirror movements in opposing limbs has been linked to a common developmental brain disorder.

Common knowledge says that genetic mutations are bad. This is true for most mutations of lipoprotein lipase (LPL), the enzyme in the blood responsible for the breakdown of lipoproteins, which allows tissue to utilize energy ...

A computer method called ZeitZeiger that uses a sample of blood to accurately predict circadian time - the time of day according to a person's body clock - is described in new research published in the open access journal ...

Genetic variants linked to autism spectrum disorders (ASD) may have been positively selected during human evolution because they also contribute to enhanced cognition, a new Yale study suggests.

Australian scientists have discovered the first evidence of genes that cause Macular Telangiectasia type 2 (MacTel), a degenerative eye disease which leads to blindness and is currently incurable and untreatable.

New research has identified sections of DNA associated with altered regulation of gene expression underlying schizophrenia. The implicated loci contribute to schizophrenia risk by affecting alternative splicing, part of the ...

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March 3, 2017 High magnification micrograph of Crohn's disease. Biopsy of esophagus. H&E stain. Credit: Nephron/Wikipedia

A Massachusetts General Hospital (MGH) research team has found how a variant in an important epigenetic enzymepreviously associated by population-based genetic studies with Crohn's disease and other immune disordersinterferes with the action of the innate immune system, potentially upsetting the healthy balance between the microbial population of the gastrointestinal tract and the immune response. In their paper published in Science Immunology the team reports findings that SP140an epigenetic reader protein that plays a critical role in determining whether or not target genes are expressedis essential to suppressing inappropriate gene expression in macrophages, innate immune cells that are critical to maintaining intestinal balance.

"More than 400 enzymes write, read or erase the epigenome, and mutations in these enzymes are some of the most prevalent perturbations in cancers, prompting rigorous efforts to identify compounds that could inhibit their function and reset gene expression," says Kate Jeffrey, PhD of the MGH Gastrointestinal Unit and the Center for the Study of Inflammatory Bowel Disease, corresponding author of the Science Immunology report. "Our knowledge of epigenomic enzyme mutations in immune-mediated disease is lagging well behind the cancer field, and our studythe first to examine the function of SP140 in any detailshows how its loss in Crohn's disease triggers intestinal inflammation."

SP140 is predominantly expressed in immune cells, and a variant form of the gene has been associated with Crohn's disease, multiple sclerosis and chronic lymphocytic leukemia. Prior to this study both the normal function of the SP140 protein and how the gene variant affected the protein and caused disease were unknown. In a series of experiments, Jeffrey's team showed that the unaltered form of SP140 is required to maintain the appropriate expression of genes that define the identity and function of macrophages. The immune disorder variantcharacterized by 17 individual sequence changes - resulted in a loss of SP140 protein that compromised the ability of macrophages to respond to microbial signals.

The researchers also showed that reducing SP140 expression in the immune cells of a mouse model of colitis increased intestinal inflammation. In addition, examining intestinal biopsy samples from a group of Crohn's disease patients revealed that those in whom SP140 expression was reduced responded better to anti-TNF (tumor necrosis factor) therapya treatment for inflammatory conditions that is effective in only about half of Crohn's patients - than did patients with typical SP140 levels.

"Finding this correlation between lower intestinal levels of SP140 and a better response to anti-TNF represents a potential precision medicine strategy for tailoring anti-TNF-like therapies to Crohn's patients carrying the variant form of SP140," says Jeffrey, who is an assistant professor of Medicine at Harvard Medical School. "Our study may also lead to better inflammatory bowel disease therapies by highlighting the critical role of epigenetic mechanisms for intestinal health. Although directly targeting SP140 would not be a good option, since its loss is detrimental to intestinal health, leveraging other epigenetic enzyme inhibitors that promote protective innate immune responses in the intestine could be a real therapeutic option"

Additional research is needed to better understand exactly how SP140 normally limits the expression of inappropriate genes and whether this function is limited to macrophages or also occurs in other SP140-expressing immune cells, Jeffrey notes. Her team also hopes to investigate the role of the Crohn's-associated SP140 variant in multiple sclerosis and chronic lymphocytic leukemia, along with identifying other epigenetic enzymes that may be therapeutically targetable in inflammatory bowel disease and other immune-driven disorders.

Explore further: Crohn's disease risk and prognosis determined by different genes, study finds

More information: "Maintenance of macrophage transcriptional programs and intestinal homeostasis by epigenetic reader SP140," Science Immunology, immunology.sciencemag.org/lookup/doi/10.1126/sciimmunol.aag3160

A Massachusetts General Hospital (MGH) research team has found how a variant in an important epigenetic enzymepreviously associated by population-based genetic studies with Crohn's disease and other immune disordersinterferes ...

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