Category Archives: Gene Medicine

February 14, 2017 by Brian Wallheimer This stylistic diagram shows a gene in relation to the double helix structure of DNA and to a chromosome (right). The chromosome is X-shaped because it is dividing. Introns are regions often found in eukaryote genes that are removed in the splicing process (after the DNA is transcribed into RNA): Only the exons encode the protein. The diagram labels a region of only 55 or so bases as a gene. In reality, most genes are hundreds of times longer. Credit: Thomas Splettstoesser/Wikipedia/CC BY-SA 4.0

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 to new therapeutics in the fight against select cancers and neural diseases.

Joseph Irudayaraj, a Purdue professor of agricultural and biological engineering, and Feng Zhou, a professor and neuroscientist at the Indiana University School of Medicine, have developed an optogenetic toolbox that brings together proteins and enzymes that methylate or demethylate a gene called Ascl1. Alteration of the methylation pattern in a specific gene with the optogenetic proteins would allow scientists to turn that gene on or off and produce desirable neurons among other cell types.

"If we can alter the epigenetic state at a specific location of a gene, then we can turn that gene on or off for personalized medicine," Irudayaraj said.

The findings, published in the journal Nature Scientific Reports, have implications for a number of diseases and maladies.

"By the ability of determining the fate of stem cells, one day it may be applied to produce neurons in Down syndrome, or reduce malignancy of glioma, a cancer in the brain," Zhou said. "By altering the methylation marks at a specific location of the gene, we have shown that the state of a cell can be altered."

Epigenetics is the study of changes in chemical modifications on top of a gene based on external or environmental factors rather than changes in a DNA sequence. Optogenetics involves the utilization of light-sensitive proteins to alter the genetic or epigenetic profile in a cell or organism.

The researchers' findings detail the ability to modify the methylation profile of the Ascl1 gene in a site-specific manner, thereby controlling gene expression. DNA methylation involves adding a methyl group to the cytosine base of DNA, utilizing a family of enzymes called DNA methyltransferases (DNMTs). DNA demethylation is the removal of a methyl group from the cytosine bases using enzymes called Ten-Eleven Translocation, or TET.

Irudayaraj and his team attached these cytosine-modifying enzymes DNMT3A/TET to light-sensitive protein pairs to demonstrate site-specific methylation/demethylation. Zhou and his team introduced those light-sensitive proteins into neural stem cells and found that when they shined a blue light, the methylation modifying enzyme DNMT3A/TET and the gene target came together, adjusting the methylation of the gene.

"It's almost like putting a worm on a hook, and putting it in the water to catch a fish when it comes along. Once the light goes on, the hook and the fish come together and you catch the fish," Irudayaraj said.

The ability to activate or deactivate a gene, specifically those that suppress or promote a disease condition, could be a valuable tool for cancer therapeutics as well. The team plans to take the findings, done on neural stem cells, to mouse model systems.

"We want to apply this to therapeutics or toxicology," Irudayaraj said. "Essentially the applications are very broad. It can also include nervous system malfunctions, including addiction."

Explore further: Epigenetics and neural cell death

More information: Chiao-Ling Lo et al. Epigenetic Editing of Ascl1 Gene in Neural Stem Cells by Optogenetics, Scientific Reports (2017). DOI: 10.1038/srep42047

Ludwig-Maximilians-Universitaet researchers have demonstrated how deregulation of an epigenetic mechanism that is active only in the early phases of neurogenesis triggers the subsequent death of neural cells.

In normal development, all cells turn off genes they don't need, often by attaching a chemical methyl group to the DNA, a process called methylation. Historically, scientists believed methyl groups could only stick to a particular ...

The fate of stem cells is determined by series of choices that sequentially narrow their available options until stem cells' offspring have found their station and purpose in the body. Their decisions are guided in part by ...

Though the drug levodopa can dramatically improve Parkinson's disease symptoms, within five years one-half of the patients using L-DOPA develop an irreversible conditioninvoluntary repetitive, rapid and jerky movements. ...

A genomic study of baldness identified more than 200 genetic regions involved in this common but potentially embarrassing condition. These genetic variants could be used to predict a man's chance of severe hair loss. The ...

Just before Rare Disease Day 2017, a study from the Monell Center and collaborating institutions provides new insight into the causes of trimethylaminura (TMAU), a genetically-transmitted metabolic disorder that leads to ...

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.

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Optogenetics used to kick start gene that plays role in neural defects - Medical Xpress

CHICAGO Powerful gene editing tools may one day be used on human embryos, eggs and sperm to remove genes that cause inherited diseases, according to a report by U.S. scientists and ethicists released on Tuesday.

The report from the National Academy of Sciences (NAS) and the National Academy of Medicine said scientific advances make gene editing in human reproductive cells "a realistic possibility that deserves serious consideration.

The statement signals a softening in approach over the use of the technology known as CRISPR-Cas9 that has opened up new frontiers in genetic medicine because of its ability to modify genes quickly and efficiently.

In December 2015, scientists and ethicists at an international meeting held at the NAS in Washington said it would be "irresponsible" to use gene editing technology in human embryos for therapeutic purposes, such as to correct genetic diseases, until safety and efficacy issues are resolved.

Though the technology is still not ready, the latest NAS report says clinical trials for genome editing of the human germline could be permitted, "but only for serious conditions under stringent oversight."

Such editing is not legal in the United States, and other countries have signed a convention prohibiting the practice on concerns it could be used to create so-called designer babies.

CRISPR-Cas9 works as a type of molecular scissors that can selectively trim away unwanted parts of the genome, and replace it with new stretches of DNA.

Genome editing is already being planned for use in clinical trials of people to correct diseases caused by a single gene mutation, such as sickle cell disease. But these therapies affect only the patient.

The concern is over use of the technology in human reproductive cells or early embryos because the changes would be passed along to offspring.

Research using the powerful technique is plowing ahead even as researchers from the University of California and the Broad Institute battle for control over the CRISPR patent.

Although gene editing of human reproductive cells to correct inherited diseases "must be approached with caution, caution does not mean prohibition," the committee said in a statement.

Sarah Norcross of the Progress Educational Trust, which advocates for people affected by genetic conditions, called the recommendations "sensible and prudent."

But Marcy Darnovsky of the Center for Genetics and Society said they were "unsettling and disappointing," arguing that they "constitute a green light for proceeding with efforts to modify the human germline" - changes that can be passed to future generations.

(Reporting by Julie Steenhuysen; Editing by Marguerita Choy and Andrew Hay)

BEIJING China plans to launch its first cargo spacecraft in April, state media reported on Tuesday, taking a step toward its goal of establishing a permanently manned space station by 2022.

STOCKHOLM Swedish academic Hans Rosling, a doctor and statistician who captured a worldwide audience with his witty style and original thinking on topics like population growth and development, has died at the age of 68.

CAPE CANAVERAL, Fla. Space Exploration Technologies Corp, better known as SpaceX, plans to launch its Falcon 9 rockets every two to three weeks, its fastest rate since starting launches in 2010, once a new launch pad is put into service in Florida next week, the company's president told Reuters on Monday.

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US experts soften on DNA editing of human eggs, sperm, embryos - Reuters

WASHINGTON, DC--(Marketwired - Feb 14, 2017) - The National Academies of Sciences, Engineering and Medicine today issued a report that examines the scientific, clinical, ethical, legal and social implications of human genome editing. The Alliance for Regenerative Medicine (ARM) believes that genomic medicines, including genome editing, hold great promise for the treatment of a multitude of hereditary and acquired diseases where there is presently no effective treatment available.

ARM issued the following statement:

The Alliance for Regenerative Medicine (ARM) applauds the National Academies of Sciences, Engineering and Medicine for its very thorough and thoughtful report on the current scientific, technical, ethical, and policy issues relating to human genome editing. We support the need for responsible and ethically appropriate approaches to research and clinical use of these technologies following the seven guiding principles outlined in the report, as well as the need for continued public engagement and dialogue. We also commend the Academies for recognizing the profound impact genome editing will have on the development of a new class of medicines for many patients with presently incurable diseases.

We believe the report's recommendations that "existing regulatory infrastructure and processes for reviewing and evaluating somatic gene therapy to treat or prevent disease and disability" are sensible and will help create a safe path toward eventual clinical adoption and regulatory approval of therapeutics based on somatic cell genome editing.

In addition, we note the report's recommendations on heritable germline genome editing and the strict criteria to be met before ever considering clinical study. ARM will continue to monitor developments related to these applications, but until safety is proven and the risks associated with long-term consequences, both intended and unintended, are fully evaluated, we will remain solely focused on realizing the full therapeutic potential of somatic cell genome editing. Further, we must be satisfied that all relevant moral and ethical issues have been addressed and that a broad societal consensus exists as to the benefits and risks associated with editing the germline.

ARM believes that advances in the field of gene therapy, including somatic cell genome editing, have the potential to profoundly and positively impact the practice of medicine for currently incurable genetic diseases, such as muscular dystrophy, sickle cell disease (SCD), cystic fibrosis, hemophilia, adrenoleukodystrophy (ALD), Alpha-1 Antitrypsis Deficiency (AATD), and Transthyretin Amyloidosis (ATTR), as well as acquired diseases such as cancer, certain forms of heart disease, HIV, Hepatitis B virus, and other infectious diseases.

It is estimated that 30 million Americans, or 1 in every 10 people, are afflicted with one of the approximately 7,000 rare diseases. Two thirds of those affected are children. The National Organization for Rare Disorders (NORD) estimates that for 95 percent of these diseases no FDA-approved treatment currently exists,(1) and the few treatments that are available generally address the symptoms and not the underlying genetic cause of the disease. As a result, these treatments must be administered for the duration of a patient's life. In contrast, genome editing offers the very real potential to bring hope to rare disease patients through development of a broad range of new technologies to precisely target and modify the genetic material of a patient's cells. By removing, repairing, or replacing a defective gene or genes, these therapies hold the promise of potentially curing a broad range of diseases with a single treatment.

Similarly, in diseases such as cancer, HIV, and beta-thalessemia, genome editing is being employed to modify T cells and hematopoietic stem cells ex-vivo. The modified cells are then delivered to the patient to treat and potentially cure the underlying disease. These programs build upon early successes and several advanced programs based on somatic cell gene replacement therapies.

According to a recent white paper titled, "Therapeutic Gene Editing," published by the American Society of Gene & Cell Therapy (ASGCT), "the successful development of effective treatments based on genome editing could shift today's approach from a lifetime of symptom management for hereditary diseases to tomorrow's ideal of making a one-time curative repair or change to an individual's affected gene. The goal is a long lasting, perhaps life-long effect that minimizes or even eliminates disease."(2) Diseases involving multiple genes may also be treatable if the therapy can alter specific genes affecting the course of the disease.

ARM represents a number of companies and research institutions that use various gene therapy and genome editing technology platforms, including CRISPR/Cas9, zinc finger nucleases (ZFNs), homing endonucleases, vector-driven homologous recombination, transcription activator-like effector-based nucleases (TALEN) and meganucleases, amongst others to design therapeutics that address a wide range of, hereditary and acquired diseases.

About The Alliance for Regenerative Medicine

The Alliance for Regenerative Medicine (ARM) is an international multi-stakeholder advocacy organization that promotes legislative, regulatory and reimbursement initiatives necessary to facilitate access to life-giving advances in regenerative medicine worldwide. ARM also works to increase public understanding of the field and its potential to transform human healthcare, providing business development and investor outreach services to support the growth of its member companies and research organizations. Prior to the formation of ARM in 2009, there was no advocacy organization operating in Washington, D.C. to specifically represent the interests of the companies, research institutions, investors and patient groups that comprise the entire regenerative medicine community. Today, ARM has more than 250 members and is the leading global advocacy organization in this field. To learn more about ARM or to become a member, visit http://www.alliancerm.org.

1. National Organization for Rare Disorders (2015). NORD developing 20 natural history studies for 20 rare diseases (Press Release). https://rarediseases.org/fda-awards-nord-250000-grant-to-support-the-development-of-20-natural-history-studies-for-rare- disease-research/.

2. American Society of Gene & Cell Therapy (2016). Therapeutic Gene Editing: An American Society of Gene & Cell Therapy White Paper. http://www.asgct.org/UserFiles/file/TherapeuticGeneEditingWP_Nov21_v1.pdf.

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The Alliance for Regenerative Medicine Releases Statement in Response to National Academies Report on Human ... - Benzinga

Researchers have discovered a way to reprogram mouse liver cells into precursor pancreatic cells by changing the expression of a single gene. They suggest that the finding is an important step toward showing that reprogramming liver cells might offer a way forward for the treatment of type 1 diabetes in humans.

The team - led by researchers from the Max Delbrck Center for Molecular Medicine in Berlin, Germany - reports the study in the journal Nature Communications.

Diabetes is a chronic disease that develops either when the body cannot make enough insulin, or when it cannot effectively use the insulin that it does make. Insulin is a hormone that regulates blood sugar, or glucose, and it helps to convert glucose from food into energy for cells.

Uncontrolled diabetes leads to high blood sugar, or hyperglycemia, which over time causes serious damage to many parts of the body, including the heart, blood vessels, nerves, eyes, and kidneys.

In the United States, an estimated 29.1 million people have diabetes, including 8.1 million who are undiagnosed.

The most common type of diabetes is type 2, in which the body cannot use insulin effectively. Type 1 diabetes, in which the body does not make enough insulin, accounts for around 5 percent of diabetes cases in adults.

The new study is likely to interest researchers developing treatments for type 1 diabetes. In people with type 1 diabetes, the immune system attacks the insulin-producing beta cells of the pancreas.

Researchers in regenerative medicine are exploring ways to generate new populations of pancreatic beta cells as a possible avenue for the treatment of type 1 diabetes.

Fast facts about type 1 diabetes

Learn more about type 1 diabetes

The new study concerns a method called cell reprogramming, in which it is possible to convert one type of cell into another type of cell, by tweaking genes.

An obvious source of cells for reprogramming into insulin-producing beta cells might be other types of cell in the pancreas.

In their study paper, the researchers mention other research that shows such pancreatic cells display a high degree of the necessary "cellular plasticity."

However, the researchers chose to focus on liver cells because, from a clinical perspective, they offer important advantages over pancreatic cells; for example, they are more accessible and abundant.

They also cite studies that have partially corrected hyperglycemia in diabetic mice by reprogramming liver cells into pancreatic beta cells.

The new study shows how just by changing the expression of a single gene called TGIF2, the team was able to coax mouse liver cells to take on a less specialized state and then stimulate them to develop into cells with pancreatic features.

When the researchers transplanted the modified cells into diabetic mice, the animals' blood sugar levels improved, suggesting the cells were behaving in a way similar to pancreatic beta cells.

The researchers identified TGIF2 (Three-Amino-acid-Loop-Extension homeobox TG-interacting factor 2) by running gene expression profiling tests on immature liver and pancreas cells isolated from mouse embryos as the cells differentiated toward their particular cell fates.

They found that at a particular differentiation branchpoint, the expression of TGIF2 changes in opposite directions as the cells commit to either liver or pancreatic fates.

The authors note that their study shows that "TGIF2 is a developmental regulator of pancreas versus liver fate decision," and when expressed in adult mouse liver cells, it suppresses the transcription program for liver cells and induces a subset of pancreatic genes.

There is still a lot of work to do to investigate whether the results with mice translate to humans. The team has already started working on human liver cells.

"There are differences between mice and humans, which we still have to overcome. But we are well on the path to developing a 'proof of concept' for future therapies."

Senior author Dr. Francesca M. Spagnoli, Max Delbrck Center

Learn how type 1 diabetes kills some insulin-producing cells but not others.

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Type 1 diabetes: Reprogramming liver cells may lead to new treatments - Medical News Today

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 ...

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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 ...

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

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.

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

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 ...

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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

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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)

SOUTHPORT Thad Wester, Lumbertons first pediatrician and among the initial waves of doctors who helped establish what is today Southeastern Health, died Sunday in Southport.

Born on Christmas Day 1926, Thaddeus Bryan Wester, who had been in declining health, was 90 years old.

Wester came to Lumberton in 1954 and practiced medicine here for 30 years. In addition to being a physician, Wester was an outdoorsman, accomplished sailor, pilot, conservationist and a driving force behind the development of Bald Head Island into a resort community, where he was its first mayor, serving for two years.

Arthur Gene Douglas, a psychiatrist who practiced medicine in Lumberton for 32 years, called Wester his mentor, and followed him to live at Bald Head Island.

When I moved to Lumberton in 1965 he was my senior by eight years and was my mentor, said Douglas, who retired in 1997. He helped me transition from military medicine to civilian medicine. He was always helpful and supportive, particularly with my efforts to establish mental health services in Lumberton and Robeson County.

Wester, a native of Henderson, earned an undergraduate degree from Duke University in 1946 and his medical degree from Duke in 1950. A World War II veteran, he served two and a half years in the Navy, being discharged as a lieutenant.

He was recruited to Lumberton by Dr. D.E. Ward, a retired surgeon who is now 96.

He was a great doctor, a dedicated community man, and a great church man, said Ward, who hunted, fished and played golf with Wester.

Wester and his wife Lee, who survives him, moved into a home on 28th Street near Southeastern General Hospital and then to their long-time home on 30th Street, where they raised four children, Ellen, Bryan, Ginny and Amanda.

He founded the Lumberton Childrens Clinic, which continues operating today.

Wester served at various times as chief of staff at the hospital, president of Robeson County Medical Association, president of the North Carolina Medical Association, was Robeson Countys health director for three and half years, and was deputy state health director for eight years.

He was also instrumental in the recruitment of physicians as the hospital became Southeastern Medical Center, then Southeastern Regional Medical Center, and is today Southeastern Health.

Douglas was among those doctors, but their friendship of 50 years was not confined to the halls of the hospital.

Douglas family used to vacation at the Westers home, the first built at Bald Head, in 1973, behind the 12th green of the Bald Head Island golf course.

Thad and I shared a love for the outdoors and camped, hunted, fished and gardened together frequently, Douglas said. Thad was a sailor and we had many wonderful times sailing. We also shared a love of golf and Thad was an excellent player.

If I had a dime for every beer we consumed surf fishing I would be a millionaire.

Wester spent the late fall and winter of his life at Bald Head. He was profiled in a story in Our State Magazine in 2013 called the Generator Society of Bald Head Island about how folks who went to the island before it had electricity lived off generators.

Without Thad, Bald Head Island would not be the best place in the world to live, Douglas said.

Wester established the Bald Head Island Conservancy, which worked to protect sea turtles that nested in the island, and served as its president. He was accomplished fisherman, establishing and serving as dean of the Bald Head Island Conservancy Fishing School.

Perhaps Thads greatest skill was his ability to take a very diverse group of individuals with very diverse views, allow each to express their views, and then bring the group to consensus, with all happy with the consensus, Douglas said.

He was always an advocate for preserving the beauty of the Island, Douglas said. He is a major loss to our community.

The Westers were longtime members of Trinity Episcopal Church in Lumberton, where he served at various times as senior warden, vestryman, superintendent of Sunday School and lay reader.

Among the organizations he served and honors he picked up: Duke University trustee for 12 years; president of the North Carolina Health Directors Association, 1987; founder and president of the Bald Head Island Property Owners Association; Distinguished Alumni Award, Duke University Medical Center, 2001; Alpha Omega Alpha Honor Medical Society, 1978; Outstanding North Carolina Health Director, 1986; Order of Long Leaf Pine, 1994; U.S. Public Health Service Medal, 1993.

Funeral arrangements are incomplete, but plans are for memorial services in Lumberton and at Bald Head Island.

Thad Wester

http://robesonian.com/wp-content/uploads/2017/02/web1_Wester-Thad-001-3.jpgThad Wester

Editor Donnie Douglas can be reached at 910-416-5649.

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Wester, city's first pediatrician, dies at age 90 - The Robesonian