Category Archives: Transhuman News

Lola Aiken, wife of the late Gov. George Aiken, is accompanied by then-Gov. Peter Shumlin as she waves to supporters during her 100th birthday celebration in June 2012. Aiken would live to age 102. STEFAN HARD / STAFF FILE PHOTO

Will it soon be possible for most of us to live to be 100?

Yes, experts told The Palm Beach Post last week, and genomic medicine will play a crucial role.

What is genomic medicine?

Its an emerging medical discipline that uses a persons gene map to make diagnostic decisions.

Its also the foundation for what former President Obama announced in his 2015 State of the Union address: the Precision Medicine Initiative.

Over the weekend, Dr. Georgia Dunston, founding director of the National Human Genome Center at Howard University and one of the nations leading genome experts, were in Palm Beach County. She spoke at different events connected to the West Palm Beach Alumnae Chapter of Delta Sigma Theta Sorority Inc. Founders Day Weekend.

The theme of the Friday Sunday gathering was Genomics: African ancestry and culture spirit, soul and body.

As Dunston explained of her work with the groundbreaking International Human Genome Project, The genome is the complete set of instructions for building and operating the human body. In 2003, scientists completed the sequence of the human genome, which shows the location of each of the 20,500 genes in the complete map of the human genome.

In lay terms, this means that we all have a vast, unique genetic map that doctors and researchers can now use to customize our health- related decisions.

Which medications work best with which genes.

Which gene sequences are more likely to develop which diseases.

Which environmental and lifestyle factors are most likely to affect given gene sequences.

Genomics is helping researchers discover why some people get sick from certain infections, environmental factors, and behaviors, while others do not. Because genes are inherited and shared among relatives, genomics is also helping researchers discover why certain diseases occur in some families and not others, and are more common in some ethnic groups and natural populations than others, said Dunston.

One of the events organizers, Dr. Eugenia Millender, president of the West Palm Beach Alumnae Chapter of Delta Sigma Theta, also has firsthand knowledge of the importance of genomics especially in African-American and other minority populations, as shes the director of the Florida Atlantic University Community Health Center, where genetic testing is available.

A psychiatric nurse practitioner and assistant professor at Florida Atlantic Universitys Lynn College of Nursing, Millender said, This is the most innovative development in the way we approach health care. We have to educate as many people as possible about the availability of this kind of testing.

She further explained that everything from our mental health to our pain threshold is dictated by our genomic map.

At Friday evenings free town hall meeting, the genetic testing company GeneSight was on hand to provide attendees information on how affordable the testing can be.

Millender noted that for those on Medicaid, GeneSight is offering the testing for free, and for those on insurance plans, the cost can be just a few hundred dollars, depending on their income.

Marian Stubbs, chairwoman for the 2017 Delta Sigma Theta Founders Day Weekend, cant wait for others to hear Dunston explain the potentially transformative benefits of genomic medicine.

Read the original:
The secret to health and long life: It's in your genes - Rutland Herald

February 13, 2017 Four sub-types of pheochromocytoma/paraganglioma. Credit: Penn Medicine

Casting one of the largest genomic nets to date for the rare tumors of the autonomic nervous system known as pheochromocytoma and paraganglioma (PCC/PGL) captured several new mutations driving the disease that could serve as potential drug targets, researchers from Penn Medicine and other institutions reported this week in Cancer Cell.

Analyzing genetic data of 173 patients from The Cancer Genome Atlas, researchers, including senior author Katherine Nathanson, MD, a professor in the division of Translational Medicine and Human Genetics at the Perelman School of Medicine at the University of Pennsylvania and associate director for Population Science at Penn's Abramson Cancer Center, identified CSDE1 and fusion genes in MAML3 as drivers of the disease, both a first for any cancer type. The researchers also classified PCC/PGL into four distinct subtypes, each driven by mutations in distinct biological pathways, two of which are novel.

"What's interesting about these tumors is that while they are astonishingly diverse genetically, with both inherited and somatic drivers influencing tumorigenesis, each has a single driver mutation, not multiple mutations," Nathanson said. "This characteristic makes these tumors ideal candidates for targeted therapy." Other cancer types typically contain anywhere from two to eight of these driver mutations.

The discovery of these single drivers in PCC/PGL provides more opportunities for molecular diagnosis and prognosis in these patients, particularly those with more aggressive cancers, the authors said.

PGLs are rare tumors of nerve ganglia in the body, whereas PCCs form in the center of the adrenal gland, which is responsible for producing adrenaline. The tumor causes the glands to overproduce adrenaline, leading to elevated blood pressure, severe headaches, and heart palpitations. Both are found in about two out of every million people each year. An even smaller percentage of those tumors become malignant - and become very aggressive. For that group, the five-year survival rate is about 50 percent.

Matthew D. Wilkerson, MD, the Bioinformatics Director at the Collaborative Health Initiative Research Program at the Uniformed Services University, is the paper's co-senior author.

To identify and characterize the genetic missteps, researchers analyzed tumor specimens using whole-exome sequencing, mRNA and microRNA sequencing, DNA-methylation arrays, and reverse-phase protein arrays. The four molecularly defined subgroups included: a kinase-signaling subtype, a pseudohypoxia subtype, a cortical admixture subtype, and a Wnt-altered subtype. The last two have been newly classified.

The results also provided clinically actionable information by confirming and identifying several molecular markers associated with an increased risk of aggressive and metastatic disease, including germline mutations in SDBH, somatic mutations in ATRX (previously established in a Penn Medicine study), and new gene fusions - a genetic hybrid, of sorts - in MAML3.

Because the MAML3 fusion gene activates the Wnt-altered subtype, the authors said, existing targeted therapies that inhibit the beta-catenin and STAT3 pathways may also prove effective in certain PCC/PGL tumors.

Other mutations identified in the analysis may also serve as potential targets for drugs currently being investigated in other cancers. For example, glutaminase inhibitors are being tested in SDH-mutant tumors, including breast and lung, and ATR inhibitors are being investigated in blood cancers. Today, there are several U.S. Food and Drug Administration-approved targeted therapies for mutations, such as BRAF and FGFR1, among others, also found in PCC/PGL.

"The study gives us the most comprehensive understanding of this disease to date - which we believe will help researchers design better trials and target mutations that will ultimately help improve treatment for these patients," Nathanson said. "The next step is to focus more on aggressive cancers that metastasize and the drivers behind those tumors."

Explore further: Mutated ATRX gene linked to brain tumors potential biomarker for rare adrenal tumors too

More information: Lauren Fishbein et al, Comprehensive Molecular Characterization of Pheochromocytoma and Paraganglioma, Cancer Cell (2017). DOI: 10.1016/j.ccell.2017.01.001

A somatic mutation in the ATRX gene has recently been shown as a potential molecular marker for aggressive brain tumors, such as gliomas, neuroblastomas and pancreatic neuroendocrine tumors. Now, for the first time, researchers ...

A team of University of South Carolina scientists led by Carolyn Banister and Phillip Buckhaults has identified a new subtype of cervical cancer that, like most cervical cancers, is triggered by human papillomavirus (HPV) ...

In recent years, researchers have identified specific gene mutations linked to gastrointestinal stromal tumors (GIST), which primarily occur in the stomach or small intestine, with 5,000 to 6,000 new cases per year in the ...

Continuing PLOS Medicine's special issue on cancer genomics, Christos Hatzis of Yale University, New Haven, CT, USA and colleagues describe a new subtype of triple negative breast cancer that may be more amenable to treatment ...

A newly defined type of colorectal and endometrial cancer involves at least two somatic mutations in the mismatch repair genes (MMR): MLH1, MSH2, MSH6, PMS2. This double somatic MMR cancer has no germline mutations in the ...

A new comprehensive analysis of thyroid cancer from The Cancer Genome Atlas Research Network has identified markers of aggressive tumors, which could allow for better targeting of appropriate treatments to individual patients.

Taking one-fourth the standard dose of a widely used drug for prostate cancer with a low-fat breakfast can be as effective - and four times less expensive - as taking the standard dose as recommended: on an empty stomach.

Cancer cells rely on the healthy cells that surround them for sustenance. Tumors reroute blood vessels to nourish themselves, secrete chemicals that scramble immune responses, and, according to recent studies, even recruit ...

Immunotherapies have revolutionized cancer treatment, offering hope to those whose malignancies have stubbornly survived other existing treatments. Yet solid tumor cancers are often resistant to these approaches.

Researchers have witnessedfor the first timecancer cells being targeted and destroyed from the inside, by an organo-metal compound discovered by the University of Warwick.

A team of investigators from Cedars-Sinai and UCLA is using a new blood-analysis technique and tiny experimental device to help physicians predict which cancers are likely to spread by identifying and characterizing tumor ...

Researchers at Cold Spring Harbor Laboratory (CSHL) have discovered that a protein called Importin-11 protects the anti-cancer protein PTEN from destruction by transporting it into the cell nucleus. A study they publish today ...

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Continue reading here:
In-depth gene search reveals new mutations, drug targets in rare adrenal tumors - Medical Xpress

February 13, 2017 Credit: CC0 Public Domain

A new study shows how errors in a specific gene can cause growth defects associated with a rare type of dwarfism.

During the study, published today in Nature Genetics, an international team of scientists led by the University of Birmingham looked at genetic information from more than 250 people around the world with microcephalic dwarfism, a group of disorders characterised by short stature and reduced head size.

They found that 29 of the individuals had faulty versions of a gene called DONSON.

Tests on cells growing in the laboratory revealed that this gene plays a crucial role in ensuring DNA is copied correctly when cells divide and grow.

Cells from patients with mutations in the DONSON gene had difficulty in efficiently replicating their DNA and protecting it from uncontrolled damage, ultimately leading to the growth defects typical of microcephalic dwarfism.

This research raises the potential of more accurate diagnoses for patients with genetic microcephaly, in addition to providing an insight into how similar rare hereditary diseases are caused.

Professor Grant Stewart, from the Institute of Cancer and Genomic Sciences at the University of Birmingham, says: 'Despite DNA replication being a process that is fundamental to life, there is still a lot we don't know. This research sheds new light on the mechanisms underlying DNA replication, and the effect on human health when this process goes wrong.'

Professor Andrew Jackson, of the University of Edinburgh's Institute for Genetics and Molecular Medicine, says: 'Identification of DONSON as a microcephaly gene has given us new insights into how the genome is protected during DNA replication, and has only been possible through the close collaboration and contributions of families, clinicians and scientists from many countries around the world.'

Professor Christopher Mathew, from the National Institute for Health Research (NIHR) Biomedical Research Centre at Guy's and St Thomas' and King's College London, adds: 'This is a good example of how unravelling the genetics of rare human disorders can provide profound insight into basic biological processes.'

Professor Fowzan Alkuraya, from the King Faisal Specialist Hospital and Research Center, also adds: 'The DONSON story is a remarkable example of how loss of a very basic cellular function can result in a phenotype that ranges from embryonic lethal to one characterized by growth deficiency of brain and body depending on the severity of the mutation. It is also a reminder of the contribution of tricky deep splicing mutations to human disease.'

Explore further: Gene discovery sheds light on causes of rare type of dwarfism

More information: Reynolds et al. (2017) 'Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism' Nature Genetics DOI: 10.1038/ng.3790

A gene linked to a type of dwarfism has been identified, in a development that will help to provide better diagnoses for those families affected.

A newly discovered mutation in the INPP5K gene, which leads to short stature, muscle weakness, intellectual disability, and cataracts, suggests a new type of congenital muscular dystrophy. The research was published in the ...

Scientists at the University of Birmingham have described a previously-unknown molecular mechanism that could lead to the genetic mutations seen in certain types of aggressive cancer cells, involving a cell's own transcription ...

The largest ever genetic study of children with previously undiagnosed rare developmental disorders has discovered 14 new developmental disorders. Published today in Nature, the research led by scientists at the Wellcome ...

The value of intersecting the sequencing of individuals' exomes (all expressed genes) or full genomes to find rare genetic variantson a large scalewith their detailed electronic health record (EHR) information has "myriad ...

Purdue University and Indiana University School of Medicine scientists were able to force an epigenetic reaction that turns on and off a gene known to determine the fate of the neural stem cells, a finding that could lead ...

Most of us would be lost without Google maps or similar route-guidance technologies. And when those mapping tools include additional data about traffic or weather, we can navigate even more effectively. For scientists who ...

Monash University and Danish researchers have discovered a gene in worms that could help break the cycle of overeating and under-exercising that can lead to obesity.

A new study shows how errors in a specific gene can cause growth defects associated with a rare type of dwarfism.

Specific genetic errors that trigger congenital heart disease (CHD) in humans can be reproduced reliably in Drosophila melanogaster - the common fruit fly - an initial step toward personalized therapies for patients in the ...

Kawasaki disease (KD) is the most common acquired heart disease in children. Untreated, roughly one-quarter of children with KD develop coronary artery aneurysmsballoon-like bulges of heart vesselsthat may ultimately ...

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Originally posted here:
Gene discovery sheds light on growth defects linked to dwarfism - Medical Xpress

February 13, 2017 A depiction of the double helical structure of DNA. Its four coding units (A, T, C, G) are color-coded in pink, orange, purple and yellow. Credit: NHGRI

Why do some people get Type 2 diabetes, while others who live the same lifestyle never do?

For decades, scientists have tried to solve this mystery - and have found more than 80 tiny DNA differences that seem to raise the risk of the disease in some people, or protect others from the damagingly high levels of blood sugar that are its hallmark.

But no one "Type 2 diabetes signature" has emerged from this search.

Now, a team of scientists has reported a discovery that might explain how multiple genetic flaws can lead to the same disease.

They've identified something that some of those diabetes-linked genetic defects have in common: they seem to change the way certain cells in the pancreas "read" their genes.

The discovery could eventually help lead to more personalized treatments for diabetes. But for now, it's the first demonstration that many Type 2 diabetes-linked DNA changes have to do with the same DNA-reading molecule. Called Regulatory Factor X, or RFX, it's a master regulator for a number of genes.

The team reporting the findings in a new paper in the Proceedings of the National Academy of Sciences comes from the University of Michigan, National Institutes of Health, Jackson Laboratory for Genomic Medicine, University of North Carolina, and the University of Southern California.

They report that many diabetes-linked DNA changes affect the ability of RFX to bind to specific locations in the genomes of pancreas cell clusters called islets. And that in turn changes the cells' ability to carry out important functions.

Islets contain the cells that make hormones, including insulin and glucagon, which keep blood sugar balanced in healthy people. In people with diabetes, that regulation goes awry - leading to a range of health problems that can develop over many years.

"We have found that many of the subtle DNA spelling differences that increase risk of Type 2 diabetes appear to disrupt a common regulatory grammar in islet cells," says Stephen C.J. Parker, Ph.D., an assistant professor of computational medicine and bioinformatics, and of human genetics, at the U-M Medical School. "RFX is probably unable to read the misspelled words, and this disruption of regulatory grammar plays a significant role in the genetic risk of Type 2 diabetes."

Parker is one of four co-senior authors on the paper, which also includes Michael Boehnke, Ph.D., of the U-M School of Public Health's Department of Biostatistics, Francis Collins, M.D., Ph.D., director of the National Institutes of Health, and Michael L. Stitzel, Ph.D. of the Jackson Laboratory.

Prior to their current faculty positions Parker and Stitzel worked in Collins' lab at the National Human Genome Research Institute. Parker's graduate student, Arushi Varshney, is one of the paper's co-first authors with Laura Scott, Ph.D., and Ryan Welch, Ph.D., of the U-M School of Public Health's Department of Biostatistics and Michael Erdos, Ph.D., of the National Human Genome Research Institute.

They performed an extensive examination of DNA from islet samples isolated from 112 people. They characterized differences not just in DNA sequences, but also in the way DNA was packaged and modified by epigenetic factors, and the levels of gene expression products that indicated how often the genes had been read and transcribed.

This allowed them to track the "footprints" that RFX and other transcription factors leave on packaged DNA after they have done their job.

RFX and other factors don't bind directly to the part of a gene that encodes a protein that does a cellular job. Rather, they bind to a stretch of DNA near the gene - a runway of sorts.

But when genetic changes linked to Type 2 diabetes are present, that runway gets disrupted, and RFX can't bind as it should.

Each DNA change might alter this binding in a different way, leading to a slightly different effect on Type 2 diabetes risk or blood sugar regulation. But the common factor for many of these changes was its effect on the area where RFX is predicted to bind, in the cells of pancreatic islets.

So, says Parker, this shows how the genome - the actual sequence of DNAcan influence the epigenome, or the factors that influence gene expression.

The researchers note that a deadly form of diabetes seen in a handful of babies born each year may be related to RFX mutations. That condition, called Mitchell-Riley syndrome, involves neonatal diabetes and malformed pancreas, and is known to be caused by a rare autosomal recessive mutation of one form of RFX.

Explore further: Unique mapping of methylome in insulin-producing islets

More information: Genetic regulatory signatures underlying islet gene expression and type 2 diabetes, PNAS, http://www.pnas.org/cgi/doi/10.1073/pnas.1621192114

Throughout our lives, our genes are affected by the way we live. Diet, exercise, age and diseases create imprints that are stored in something called methylome. Now, for the first time, researchers at the Lund University ...

Variations in non-coding sections of the genome might be important contributors to type 2 diabetes risk, according to a new study.

Problems with insulin secretion experienced by people with Type 2 diabetes, parallel similar problems with insulin-secreting beta cells in many individuals with Down syndrome. A new study, published on May 19 in PLOS Genetics ...

Personalized treatment for people with diabetes could be a step closer after researchers discovered how a single gene mutation fundamentally alters pancreatic development.

Doctors have long known that men with low testosterone are at greater risk for developing type 2 diabetes. For the first time, researchers have identified how testosterone helps men regulate blood sugar by triggering key ...

Researchers at Wake Forest Baptist Medical Center's Institute for Regenerative Medicine and colleagues have discovered a new protein that may play a critical role in how the human body regulates blood sugar levels. Reporting ...

Why do some people get Type 2 diabetes, while others who live the same lifestyle never do?

It is now possible to reprogram cells from the liver into the precursor cells that give rise to the pancreas by altering the activity of a single gene. A team of researchers at the Max Delbrck Center for Molecular Medicine ...

Keeping blood sugar levels within a safe range is key to managing both type 1 and type 2 diabetes. In a new finding that could lead to fewer complications for diabetes patients, Yale School of Medicine researchers have found ...

Latino children who live in areas with higher levels of air pollution have a heightened risk of developing Type 2 diabetes, according to a new USC-led study.

Bladder dysfunction is a reality for about half of patients with diabetes and now scientists have evidence that an immune system receptor that's more typically activated by bacteria is a major contributor.

Rat-grown mouse pancreases help reverse diabetes in mice, say researchers at Stanford, University of Tokyo

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

See more here:
Diabetes in your DNA? Scientists zero in on the genetic signature of ... - Medical Xpress

Research consortium led by Brigham and Womens Hospital identifies 13 new genetic regions associated with COPD and shared risk factors for pulmonary fibrosis

Chronic obstructive pulmonary disease (COPD) is the third leading cause of death in the United States, yet there are no effective medicines that improve mortality from the disease. While smoking remains the single most important risk factor for COPD, genetics also play an important role. In a new Research Letter published in Nature Geneticson Feb. 6, 2017, investigators describe 13 new genetic regions associated with COPD, including four that have not previously been associated with any type of lung function. The researchers also found overlap of the genetic risk of COPD with two other lung diseases, asthma and pulmonary fibrosis. These findings create an improved understanding of the genetic basis for this deadly disease.

We are excited about these findings because we have not only uncovered new genetic risk factors for COPD, but also shown overlap of COPD genetic risk with the risk to asthma and pulmonary fibrosis, said lead author Brian Hobbs, MD, MMSc a physician-researcher in the Channing Division of Network Medicineand Pulmonary and Critical Care Divisionof BWH. This is the first step in a longer process in which we hope to better understand the genetic basis for COPD, or what may be several different diseases that present as COPD. Now that we know there are new regions of the genome associated with COPD, we can build on this research by probing new biological pathways with the ultimate goal of improving therapies for our patients with this disease.

Researchers conducted a genome-wide association study of risk for chronic obstructive pulmonary disease (COPD) in a large, multi-ancestry cohort (15,256 cases and 47,936 controls). This type of study allows investigators to look across a comprehensive set of genetic variants in different individuals to see if any variant is associated with disease. Top findings from this study were replicated in a second cohort. The authors also sought to understand more about their findings by examining overlap with other diseases and examining what was known about gene function in these regions. In addition to identifying 13 new genetic regions associated with COPD, they also discovered four genetic regions that were not previously associated with any lung function trait. Nine of the genetic regions have been identified as playing an important role in lung function. Two have previously shown an association with pulmonary fibrosis; however, the specific forms of these genetic variants that increase risk for COPD decrease risk for pulmonary fibrosis. All analyses accounted for the effects of age, gender, and cigarette smoking on disease risk.

While it is extremely important that patients not smoke for many health reasons including the prevention of COPD we know that smoking cessation may not be enough to stave off the disease, said Michael Cho, MD, MPH, one of the senior authors of this manuscript and a physician-researcher in the Channing Division of Network Medicine and Pulmonary and Critical Care Division. Many patients with COPD experience self-blame, but they may be comforted to know that genetics does play a role in who ultimately develops the disease.

The BWH group also co-authored a companion paper in the same issue of Nature Genetics, led by researchers from the University of Leicester and University of Nottingham. In this large study of lung function in the UK population, they almost doubled the number of genetic variants associated with lung function levels, and found a strong association between this combined genetic risk score and COPD.

This research was conducted by the International COPD Genetics Consortium, a collaborative research effort established in 2010 at a conference at BWH. Marike Boezen, PhD, of the University of Groningen, co-led the study with Cho. The consortium now involves more than 20 studies around the world.

This work is representative of the importance of global collaboration and the shared goal of improving care for patients everywhere, said Cho. Were grateful for the efforts of all of the authors, each of whom played a valuable role in this discovery.

These findings would only be possible with the kind of large collaborative efforts that supports this study. Not only do the results build on our knowledge of COPD, but also reveal potential links with other lung diseases, like pulmonary fibrosis and asthma and can form the underpinnings of a precision medicine strategy for the treatment of more than one lung disease, said Dr. James Kiley, Director of the Division of Lung Diseases of the National Heart, Lung, and Blood Institute (NHLBI) of the National Institutes of Health (NIH).

This research was funded by:

NHLBI R01 HL084323, R01 HL113264, R01 HL089856, and P01 HL105339; K08 HL097029 and R01 HL113264, R01 HL089897 and P01 HL114501; the Alpha-1 Foundation and a VA Research Career Scientist award.

The Atherosclerosis Risk in Communities Study is carried out as a collaborative study supported by National Heart, Lung, and Blood Institute contracts (HHSN268201100005C, HHSN268201100006C, HHSN268201100007C, HHSN268201100008C, HHSN268201100009C, HHSN268201100010C, HHSN268201100011C, and HHSN268201100012C), R01HL087641, R01HL59367 and R01HL086694; National Human Genome Research Institute contract U01HG004402; and National Institutes of Health contract HHSN268200625226C. Infrastructure was partly supported by Grant Number UL1RR025005, a component of the National Institutes of Health and NIH Roadmap for Medical Research. Nora Franceschini is supported by R21HL123677-01. This work was also supported in part by the Intramural Research Program of the NIH, National Institute of Environmental Health Sciences.

We acknowledge use of phenotype and genotype data from the British 1958 Birth Cohort DNA collection, funded by the Medical Research Council grant G0000934 and the Wellcome Trust grant 068545/Z/02. Genotyping for the B58C-WTCCC subset was funded by the Wellcome Trust grant 076113/B/04/Z. The B58C-T1DGC genotyping utilized resources provided by the Type 1 Diabetes Genetics Consortium, a collaborative clinical study sponsored by the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), National Institute of Allergy and Infectious Diseases (NIAID), National Human Genome Research Institute (NHGRI), National Institute of Child Health and Human Development (NICHD), and Juvenile Diabetes Research Foundation International (JDRF) and supported by U01 DK062418. B58C-T1DGC GWAS data were deposited by the Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research (CIMR), University of Cambridge, which is funded by Juvenile Diabetes Research Foundation International, the Wellcome Trust and the National Institute for Health Research Cambridge Biomedical Research Centre; the CIMR is in receipt of a Wellcome Trust Strategic Award (079895). The B58C-GABRIEL genotyping was supported by a contract from the European Commission Framework Programme 6 (018996) and grants from the French Ministry of Research.

This CHS research was supported by NHLBI contracts HHSN268201200036C, HHSN268200800007C, HHSN268200960009C, N01HC55222, N01HC85079, N01HC85080, N01HC85081, N01HC85082, N01HC85083, N01HC85086; and NHLBI grants U01HL080295, R01HL087652, R01HL105756, R01HL103612, R01HL085251, and R01HL120393 with additional contribution from the National Institute of Neurological Disorders and Stroke (NINDS). Additional support was provided through R01AG023629 from the National Institute on Aging (NIA). A full list of principal CHS investigators and institutions can be found at CHS-NHLBI.org.

The provision of genotyping data was supported in part by the National Center for Advancing Translational Sciences, CTSI grant UL1TR000124, and the National Institute of Diabetes and Digestive and Kidney Disease Diabetes Research Center (DRC) grant DK063491 to the Southern California Diabetes Endocrinology Research Center.

The COPACETIC study was supported by a European Union FP7 grant (201379, COPACETIC). NELSON was funded by Zorg Onderzoek Nederland-Medische Wetenschappen, KWF Kankerbestrijding, Stichting Centraal Fonds Reserves van Voormalig Vrijwillige Ziekenfondsverzekeringen, Siemens Germany, G. Ph. Verhagen Stichting, Rotterdam Oncologic Thoracic Steering Committee, Erasmus Trust Fund, Stichting tegen Kanker. Kim de Jong is supported by grant number 4.113.007 the Lung Foundation Netherlands.

The COPDGene project (NCT00608764) was supported by Award Number R01HL089897 and Award Number R01HL089856 from the National Heart, Lung, And Blood Institute. The COPDGene project is also supported by the COPD Foundation through contributions made to an Industry Advisory Board comprised of AstraZeneca, Boehringer Ingelheim, Novartis, Pfizer, Siemens, Sunovion, and GlaxoSmithKline.

The ECLIPSE study (NCT00292552; GSK code SCO104960) was funded by GSK.

This work was partially supported by the National Heart, Lung and Blood Institutes Framingham Heart Study (contract number N01-HC-25195) and its contract with Affymetrix, Inc for genotyping services (contract number N02-HL-6-4278). Also supported by NIH P01 AI050516.

KARE was funded by the Consortium for Large Scale Genome Wide Association Study III (2011E7300400), which was supported by the genotyping data (the Korean Genome Analysis Project, 4845-301) and the phenotype data (the Korean Genome Epidemiology Study, 4851-302). This was also supported by the National Project for Personalized Genomic Medicine (A111218-11-GM02), Basic Science Research Program through the National Research Foundation of Korea (NRF) funded by the Ministry of Science, ICT & Future Planning (2013R1A1A1057961) and the Ministry of Education, Science and Technology (NRF-355-2011-1-E00060, NRF-2012R1A6A3A01039450).

The Lung eQTL study at Laval University was supported by the Chaire de pneumologie de la Fondation JD Bgin de lUniversit Laval, the Fondation de lInstitut universitaire de cardiologie et de pneumologie de Qubec, the Respiratory Health Network of the FRQS, the Canadian Institutes of Health Research (MOP 123369), and the Cancer Research Society and Read for the Cure. Y.B. holds a Canada Research Chair in Genomics of Heart and Lung Diseases.

The Norway GenKOLS study (Genetics of Chronic Obstructive Lung Disease, GSK code RES11080) was funded by GSK.

The ICGN study was funded by GSK.

The LifeLines cohort study was supported by the Dutch Ministry of Health, Welfare and Sport, the Ministry of Economic Affairs, Agriculture and Innovation, the province of Groningen, the European Union (regional development fund), the Northern Netherlands Provinces (SNN), the Netherlands Organisation for Scientific Research (NWO), University Medical Center Groningen (UMCG), University of Groningen, de Nierstichting (the Dutch Kidney Foundation), and the Diabetes Fonds (the Diabetic Foundation).

The Lovelace cohort and analysis was primarily supported by National Cancer Institute grant R01 CA097356 (SAB). The State of New Mexico as a direct appropriation from the Tobacco Settlement Fund to SAB. through collaboration with University of New Mexico provided initial support to establish the LSC. Additional support was provided by NIH/NCI P30 CA118100 (SAB), HL68111 (Y.T.), and HL107873-01 (YT and SB).

MESA and the MESA SHARe project are conducted and supported by the National Heart, Lung, and Blood Institute (NHLBI) in collaboration with MESA investigators. Support for MESA is provided by contracts N01-HC-95159, N01-HC-95160, N01-HC-95161, N01-HC-95162, N01-HC-95163, N01-HC-95164, N01-HC-95165, N01-HC-95166, N01-HC-95167, N01-HC-95168, N01-HC-95169, UL1-TR-001079, UL1-TR-000040, and DK063491. MESA Family is conducted and supported by the National Heart, Lung, and Blood Institute (NHLBI) in collaboration with MESA investigators. Support is provided by grants and contracts R01HL071051, R01HL071205, R01HL071250, R01HL071251, R01HL071258, and R01HL071259 by the National Center for Research Resources, Grant UL1RR033176, and the National Center for Advancing Translational Sciences, Grant UL1TR000124. The MESA Lung study was supported by grants R01 HL077612, R01 HL093081 and RC1 HL100543 from the NHLBI. This publication was developed under a STAR research assistance agreement, No. RD831697 (MESA Air), awarded by the U.S Environmental protection Agency. It has not been formally reviewed by the EPA. The views expressed in this document are solely those of the authors and the EPA does not endorse any products or commercial services mentioned in this publication. Funding for SHARe genotyping was provided by NHLBI Contract N02-HL-64278. Genotyping was performed at Affymetrix (Santa Clara, California, USA) and the Broad Institute of Harvard and MIT (Boston, Massachusetts, USA) using the Affymetrix Genome-Wide Human SNP Array 6.0.

The National Emphysema Treatment Trial was supported by the NHLBI N01HR76101, N01HR76102, N01HR76103, N01HR76104, N01HR76105, N01HR76106, N01HR76107, N01HR76108, N01HR76109, N01HR76110, N01HR76111, N01HR76112, N01HR76113, N01HR76114, N01HR76115, N01HR76116, N01HR76118 and N01HR76119, the Centers for Medicare and Medicaid Services and the Agency for Healthcare Research and Quality. The Normative Aging Study is supported by the Cooperative Studies Program/ERIC of the US Department of Veterans Affairs and is a component of the Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC). D.S. is supported by a VA Research Career Scientist award.

The Rotterdam Study is funded by Erasmus Medical Center and Erasmus University, Rotterdam, Netherlands Organization for the Health Research and Development (ZonMw), the Research Institute for Diseases in the Elderly (RIDE), the Ministry of Education, Culture and Science, the Ministry for Health, Welfare and Sports, the European Commission (DG XII), and the Municipality of Rotterdam.

The generation and management of GWAS genotype data for the Rotterdam Study (RS I, RS II, RS III) was executed by the Human Genotyping Facility of the Genetic Laboratory of the Department of Internal Medicine, Erasmus MC, Rotterdam, The Netherlands. The GWAS datasets are supported by the Netherlands Organisation of Scientific Research NWO Investments (nr. 175.010.2005.011, 911-03-012), the Genetic Laboratory of the Department of Internal Medicine, Erasmus MC, the Research Institute for Diseases in the Elderly (014-93-015; RIDE2), the Netherlands Genomics Initiative (NGI)/Netherlands Organisation for Scientific Research (NWO) Netherlands Consortium for Healthy Aging (NCHA), project nr. 050-060-810. The generation and management of spirometric data was supported by FWO project G035014N. Lies Lahousse is a Postdoctoral Fellow of the Fund for Scientific Research Foundation Flanders (FWO).

SPIROMICS was supported by contracts from the NIH/NHLBI (HHSN268200900013C, HHSN268200900014C, HHSN268200900015C, HHSN268200900016C, HHSN268200900017C, HHSN268200900018C HHSN268200900019C, HHSN268200900020C), which were supplemented by contributions made through the Foundation for the NIH from AstraZeneca; Bellerophon Therapeutics; Boehringer-Ingelheim Pharmaceuticals, Inc; Chiesi Farmaceutici SpA; Forest Research Institute, Inc; GSK; Grifols Therapeutics, Inc; Ikaria, Inc; Nycomed GmbH; Takeda Pharmaceutical Company; Novartis Pharmaceuticals Corporation; Regeneron Pharmaceuticals, Inc; and Sanofi.

The UK BiLEVE study was funded by a Medical Research Council (MRC) strategic award to M.D.T., I.P.H., D.P.S. and L.V.W. (MC_PC_12010). The research undertaken by M.D.T., M.S.A., L.V.W. and N.S. was partly funded by the National Institute for Health Research (NIHR). The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR or the Department of Health. M.D.T. holds a Medical Research Council Senior Clinical Fellowship (G0902313). This research used the ALICE High Performance Computing Facility at the University of Leicester. The Universities of Leicester and Nottingham acknowledge receipt of a Collaborative Research and Development grant from the Healthcare and Bioscience iNet, a project funded by the East Midlands Development Agency, part-financed by the European Regional Development Fund and delivered by Medilink East Midlands. I.P.H. holds a Medical Research Council programme grant (G1000861).

This research has been conducted using the UK Biobank Resource under Application Number 648. The research undertaken by M.D.T., M.S.A., L.V.W. and N.S. was partly funded by the National Institute for Health Research (NIHR). The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR or the Department of Health.

Brigham And Womens Hospital

The rest is here:
New Genetic Markers for COPD Discovered - HealthCanal.com (press release) (blog)