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Tiny versions of human organs smaller than a pea are making a big splash around the world and for a good reason. Though the clusters of cells of brain, kidney, or liver arent much to look at, experts say these so-called organoids and organs-on-a-chip are poised to remake the way new drugs are brought to market.

Right now, drug development is notoriously slow and costly; bringing a new drug to market can take a dozen years and cost upward of $2 billion. Even after all that time and money have been spent, new drug candidates often prove to be ineffective or to have dangerous side effects.

A huge percentage of drugs fail even after hundreds of millions or billions of dollars of investment, says Dr. Donald Ingber, director of Harvard Universitys Wyss Institute for Biologically Inspired Engineering and a leader in organ-on-a-chip technology. In fact, only about one in 10 drugs that make it to human tests (after testing in the lab and in animals) wind up getting FDA approval.

Growing whole organs in the lab for drug testing is a long way off. But organoids promise to change the equation because they so closely mimic their fully formed counterparts inside living human bodies. They can be used to imitate diseased as well as healthy tissue and can even be linked together to create tiny bodies-on-a-chip.

This is not building a human bodythis is not Frankenstein science, Ingber says. This is really a sophisticated, minimalist approach to building models that can actually replace the use of animals and be much more accurate in terms of predicting how drugs or toxins would affect the human body.

In addition to making it possible to create better medicines at significantly lower cost, experts say organoids will help doctors customize medical treatments to individual patients and pinpoint the cause of genetic illness. With organoids, drug development should be speedier a particular benefit if new drugs are needed urgently to curb a pandemic or treat people affected by nuclear accidents or chemical or biological warfare.

And then theres this: experts say organoids for drug testing should reduce our reliance on animal testing.

Organoids are typically grown from cells taken from human skin and reprogrammed into a primitive state. With a little coaching to mimic the conditions found in an actual body, these jack-of-all-trades stem cells self-organize into the three-dimensional clumps.

The first organoids of brain and intestinal cells arrived in the mid-2000s. Since then, scientists have created organoids of many other tissues, including kidney, lung, and breast.

Though organoid science is in its infancy, its already helping patients.

Scientists in the Netherlands are using intestine organoids to help children suffering from cystic fibrosis. Scientists elsewhere are growing mini-livers with the hope that it might someday be possible to cure liver disease not by transplanting an entire liver (which, of course, must come from a donor) but instead by implanting thousands of tiny liver organoids grown from the patients own cells.

And then there are brain organoids, which might lead someday to new treatments for serious mental and neurological conditions. Still, Its a really far, far cry from an actual human brain, says Dr. Madeline Lancaster, a developmental biologist at the Medical Research Council Laboratory of Molecular Biology in Cambridge, England.

As with all organoids, brain organoids lack certain key features of their inside-the-body counterparts, including blood vessels.

It would be wonderful if you had a three-dimensional brain tissue that was organized just like a real brain, and you could put in drugs and you could try to find something that would treat schizophrenia, Lancaster says, adding that is still a bit premature.

If organoids hold enormous promise for drug development, scientists say a mash-up of organoids and microchip technology commonly known as organs-on-a-chip, or simply organ chips, might be even better.

The chips are plastic wafers, typically about the size of a AA battery, that are laced with channels containing human organ and blood vessel cells. The devices make it possible for scientists to use electrical current, flowing air, and other physical phenomena to make, say, heart cells beat and lung cells respire.

These cues prompt the tissues to behave normally or respond realistically to disease. And scientists can use their microscopes to watch these physiological processes as they occur.

Its like a living cross-section to a part of an organ, Ingber says. We can see immune cells going back and forth, we can see tumor cells invadingits just visually quite amazing.

Ingber and other researchers have started to link multiple organ chips to form what theyre calling human-bodies-on-a-chip. By showing how a new drug might affect the whole body rather than just a particular organ, body chips could do even more to speed drug development.

Emulate, a Wyss Institute spinoff, plans to begin selling organs-on-chips and the tech to run them within the next six months. The FDA recently started evaluating how well Emulates liver chips mimic human reactions to food and foodborne illnesses. The company is also working with Johnson & Johnson, the Michael J. Fox Foundation, and Merck to use organ chips to advance treatments for blood clots, Parkinsons disease, and asthma.

Meanwhile, German competitor TissUse plans to offer humans-on-a-chip packed with more than 10 organs next year, CNBC reported.

Someday you might even be able to safeguard your health with the help of bodies-on-a-chip created from your own cells: doctors could scrape off a few skin cells and use them to create body chips that theyd use to determine which drugs would be most effective should you be stricken by cancer or another serious illness.

Meanwhile, Ingber and other researchers are using their bodies-on-chips to examine how body tissue is affected by nuclear radiation, chemical weapons, and deadly germs.

There are a lot of things out there that we just dont know how to treat becauseyou cant test them in humans, says Dr. Anthony Atala, director of the Wake Forest Institute for Regenerative Medicine in Winston-Salem, North Carolina, who is also developing bodies-on-a-chip. But, of course, these deadly forces can be tested on body chips.

The FDA has awarded a contract to Ingber and his team to use their technology to investigate possible treatments for radiation sickness. Eventually, the chips could help us be better prepared for accidents similar to Japans 2011 Fukushima nuclear disaster.

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Tiny 'Organoids' Promise Big Boost to Medical Care - NBCNews.com

James N. Jarvis, MD, is conducting a study of the gene-environment paradigm for juvenile idiopathic arthritis pathogenesis.

Published August 14, 2017

JamesN. Jarvis, MD, clinical professor of pediatrics, will usean Arthritis Foundationgrant to study how genes and environment work together to influencethe immune dysfunction in juvenile arthritis.

After asthma, juvenile idiopathic arthritis (JIA) is the mostcommon chronic disease condition in children. While genetics play asmall role in the disease, environmental factors are also known tobe important.

Study Focuses on Influence of Epigenome

The study, titled Interplay Between Genetics andEpigenetics in Polyarticular JIA, builds upon previous workby Jarvis and his fellow researchers.

The epigenome refers to the features of DNA and the proteinsthat DNA is wrapped around that do not control the genetic makeupof a person but do influence how cells respond to the environment,says Jarvis, principal investigator on the grant.

Specifically, the epigenome determines what genes a cellwill turn on or turn off in response to environmental cues,he notes.

New Paradigm of Pathogenesis Informs Research

Like most complex traits, genetic risk for JIA is principallylocated within non-coding regions of the genome.

Our preliminary studies present the hope that we canfinally understand the gene-environment paradigm forJIA pathogenesis, Jarvis says.

Rather than regarding JIA as an autoimmunedisease, triggered by inappropriate recognition of aself protein by the adaptive immune system, Jarvishypothesizes that JIA emerges because leukocytes suffer geneticallyand epigenetically mediated perturbations that blunt their capacityto regulate and coordinate transcriptions across the genome.

This loss of coordinate regulation leads to inappropriateexpression of inflammatory mediators in the absence of the normalexternal signals typically required to initiate or sustain aninflammatory response, he says.

Our field has been dominated by a single hypothesis forJIA pathogenesis for 30 years, Jarvis notes. However,as the field of functional genomics becomes increasingly wedded tothe field of therapeutics, our work carries the promise ofcompletely new approaches to therapy based on a completelydifferent paradigm of pathogenesis.

Newly Diagnosed Children Tested in Study

The researchers are recruiting 30 children with newly diagnosedpolyarticular JIA for its study to survey the epigenome and CD4+ Tcells in them and compare the results with findings in 30 healthychildren.

We plan to build a multidimensional genomic map thatsurveys the functional epigenome, examines underlying geneticvariation and examines the effects of genetic and epigeneticvariation on gene expression, Jarvis says.

He notes the work will focus on CD4+ T cells because theresearchers have already identified interesting interactionsbetween their epigenome and transcriptome in the context oftherapeutic response in JIA.

Taking Novel Approach to Understanding Disease

Because the epigenome is the medium through which theenvironment exerts its effects on cells, Jarvis believes thatcharacterizing the epigenome in pathologically relevant cells,ascertaining where epigenetic change is linked to genetic variationand determining how genetic and epigenetic features of the genomeregulate or alter transcription is the key to truly understandingthis disease.

This project addresses a question that parents alwaysask, which I never thought wed begin to answer in mylifetime: What causes JIA? This study wontprovide the whole answer, but it will go a long way toward takingus there, he says.

The project has three specific aims:

Arthritis Patients Help Determine Funded Projects

The two-year, $730,998 grant is part of the ArthritisFoundations 2016 Delivering on Discovery awards. It was oneof only six projects out of 159 proposals chosen for funding. Forthe first time, arthritis patients helped the foundation selectprojects.

Including patient input as part of the selection processwas a new milestone in patient engagement for the ArthritisFoundation and allowed us to select projects that hold the mostpromise from an arthritis patients point of view,says Guy Eakin, senior vice president, scientific strategy.

Partners from JSMBS, Philadelphia Hospital

Collaborators from the JacobsSchool of Medicine and Biomedical Sciences are:

Other collaborators include researchers from theChildrens Hospital of Philadelphia.

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Studying How Genes, Environment Contribute to Juvenile Arthritis - UB School of Medicine and Biomedical Sciences News

Catherine Coombs, MD, is an associate member at UNC Lineberger and assistant professor in the UNC School of Medicine.

In a study of nearly 9,000 people treated for solid tumor cancers, researchers found that radiation treatment and tobacco use were linked to higher rates of blood-based DNA mutations that could lead to higher risk for blood cancers like leukemia.

The study, published in the journal Cell Stem Cell, revealed new risk factors for "clonal hematopoiesis," a medical phenomenon in which genetic mutations are found in the blood cells of patients who do not have an existing blood cancer. Twenty-five percent of the patients in the study had clonal hematopoiesis. Of the subset of patients they actively followed, those with clonal hematopoiesis had a small 1 percent but increased, estimated incidence of developing blood cancer later on.

"The presence of clonal hematopoiesis can lead to an increased risk for subsequent blood cancers," said UNC Lineberger's Catherine Coombs, MD. "We wouldn't recommend forgoing treatment that is medically indicated because the risk of a secondary cancer is relatively low, but it is important to closely watch those patients who are high-risk."

Coombs was first author of the study at the Memorial Sloan Kettering Cancer Center in New York, where she completed a fellowship in oncology before coming to UNC Lineberger. The study analyzed genetic changes from 8,810 MSK cancer patients. The researchers found clonal hematopoiesis in 25 percent of patients, with the highest incidence in patients with thyroid cancer, and the lowest in patients with germ cell tumors. Mutations were more common in older people, with the odds of clonal hematopoiesis increasing 6 percent for each decade above age 30. Clonal hematopoiesis was also strongly associated with current or former tobacco use.

"A major risk factor for developing clonal hematopoiesis that can be modified or changed is tobacco use," Coombs said.

They also found a higher frequency of patients with clonal hematopoiesis who had received radiation therapy. Forty-one percent of patients with clonal hematopoiesis received radiation, compared to 35 percent of patients who did not have clonal hematopoiesis, and had received radiation.

Risk for developing a secondary blood cancer was very small in the patient population overall. Only 19 out of the 5,394 patients the researchers actively followed developed a new blood cancer within 18 months. However, for patients who did get a blood cancer, the risk was higher for patients who had clonal hematopoiesis. One percent of patients with clonal hematopoiesis were estimated to develop a secondary cancer, which was three times higher than the estimated 0.3 percent for patients who developed blood cancer and did not have clonal hematopoiesis.

"This has been borne out by other groups: if you have these clonal hematopoiesis mutations, you have a greater risk for developing hematologic cancer than do patients who don't have them," she said.

Coombs said more research is needed to determine the cause of these increases.

Explore further: Biomarker may predict which formerly treated cancer patients will develop highly fatal form of leukemia

More information: Catherine C. Coombs et al. Therapy-Related Clonal Hematopoiesis in Patients with Non-hematologic Cancers Is Common and Associated with Adverse Clinical Outcomes, Cell Stem Cell (2017). DOI: 10.1016/j.stem.2017.07.010

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Researchers find genetic precursors of leukemia in patients treated for non-blood cancers - Medical Xpress

The researchers discovered that the genetic activity of mouse skeletal muscles is particularly intense during the first two weeks after birth; a number of genes alter the amount of proteins produced, while other genes go through alternative splicing and produce different proteins.

Among the genes going through alternative splicing, those involved in calcium-handling functions predominated. Calcium is very important for skeletal and heart muscle because the influx of calcium into the cell stimulates contraction and other functions.

First author Dr. Amy Brinegar, who was a graduate student in the Cooper lab while she was working on this project and recently graduated from the doctoral program in molecular and cellular biology at Baylor, selected three calcineurin A genes, which are involved in calcium-handling functions, and reversed their natural process of alternative splicing in adult mouse muscles. Then, Dr. George Rodney, associate professor of molecular physiology at Baylor, and a graduate student in his lab, James Loehr, who are co-authors on this paper, determined the effect of switching back alternative splicing on functions of isolated adult mouse skeletal muscle in the lab.

They discovered that muscles in which the adult forms of the calcineurin A genes had been switched back to the newborn forms showed a change in calcium flow and were less strong than muscles that retained the adult forms of calcineurin A.

We showed that just by changing three of about 11,000 genes that are estimated to be expressed in adult mouse muscle, we were able to change physiological parameters of those muscles, said Brinegar. This work supports the growing evidence in favor of a physiological role of alternative splicing.

Importantly, about 50 percent of the genes we discovered to undergo alternative splicing are conserved, meaning that the genes go through the same changes both in mice and humans, which opens the possibility of modeling human muscle disorders in the mouse, Cooper said.

Other contributors top this work include Zheng Xia and Wei Li, both from Baylor.

Financial support was provided by National Institutes of Health grants R01AR045653, R01HL045565, R01AR060733, T32 HL007676, R01HG007538, R01CA193466 and R01AR061370. Further support was provided by the Muscular Dystrophy Association grant RG4205.

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Change in protein production essential to muscle function - Baylor College of Medicine News (press release)

Researchers from Portland, Ore. genetically modified human embryos for the first time on American soil, but this is not a new feat. The process has already been done in China. To date, no genetically modified embryo has been inserted into a womb.

The lead researcher, Shoukhrat Mitalipov of Oregon Health and Science University, has a history of embryo work and demonstrated this round that its possible to safely remove inherited diseases by changing defective genes. This is called germline engineering. However, none of the embryos were allowed to last longer than a few days and the results are still pending publication.

Germline engineering typically uses CRISPR-Cas9, technology which precisely alters DNA. CRISPR stands for Clustered Regularly Interspaced Short Palindromic Repeats.

At its roots, CRISPR is comprised of a small piece of RNA and a protein called Cas9. The RNA is preprogrammed to match a specific genetic code to then subsequently alter a specific strand of DNA once injected. The RNA guides the injection, and Cas9 tags along because, as an enzyme, it is able to break the DNA at an exact spot.

The challenge is that DNA tends to repair itself pretty fast. To avoid this, some CRISPR injections carry another strand of DNA the cell can use to fix the break thats created, therefore allowing genetic alterations.

The implications are very large, Dr. Charles Murry, Director of the UW Medicines Institute for Stem Cell and Regenerative Medicine, said. It gives us the ability to permanently eradicate a genetic disease from a familys pedigree. And as a physician, thats something thats extremely exciting to me.

Genetic modifications have been around for decades, and CRISPR has applied since early 2013. The possibilities for CRISPR were first realized through a natural bacterial process that defends against invasive viruses also known as this all started with yogurt, surprise.

However, the real breakthrough happened in 2015 with Junjiu Huangs first human embryo edits in China. Scientists are also looking at this system to eliminate pests and the diseases they carry.

Theres another side to it of course, Murry contended. When humans begin to rewrite our own genetic code, and there are all kinds of chances to not only make corrections as we edit but to make new mistakes as we edit we may inadvertently create problems in the attempt to solve others.

UW Health Sciences and Medicine public information editor Leila Gray said UW Medicine researchers are using CRISPR on specific somatic cells, which are the ones that make up your body. These cells were collected from patients with their approval. One team, for example, is trying to edit cells with kidney disease, studying certain conditions in petri dishes. But no UW researcher is reporting work to remove genetic diseases from human embryos.

Currently, the National Institutes of Health wont federally fund this research. However, the National Academy of Sciences and the National Academy of Medicine are recommending cautious reconsideration.

Murry predicts that before any of this would apply to a human being, a large animal would have to successfully carry to term a genetically modified embryo. Scientists would also likely have to monitor the newborns life afterward.

There are ethical conundrums with this new technology. Its so concerning that upon its first big embryonic debut, there was a three-day summit in December 2015 for hundreds of local and global scientists, policymakers, and the US presidential science adviser.

Some worry genetic engineering could lead to a dark future where humans are pre-edited for appearance, physical strength, or intelligence.

George Church, a Harvard Medical School geneticist, first told the Washington Post two years ago that there were nearly 2,000 genetic therapy trials already underway that didnt use CRISPR. The difference between those and the few that have is cost.

Its about 1,000 times cheaper for an ordinary academic to do, Church is quoted in the article. It could be a game-changer.

Reach reporter Kelsey Hamlin at news@dailyuw.com. Twitter: @ItsKelseyHamlin

Excerpt from:
First human embryo genetically modified in the US - Dailyuw

Melinda Godsey was enjoying a normal day visiting her family in Little Rock when she started to feel sick. I thought I had a stomach virus, she said. Not wanting to infect her grandchildren, she got up the next morning and started the drive back to her home in El Dorado.

Feeling weaker and weaker as the two-hour trip progressed, Godsey, an interior designer and artist, recalls the frightening moment when she passed out behind the wheel. It was quick. I just faded in and out. Thankfully I didnt cross any lanes of traffic, she said.

Her weakness continued to progress over the next three days, getting to the point where she could not shower or speak. After being admitted to the hospital, doctors found what looked to be the cause of her weakness: Severe bleeding ulcers in her stomach had resulted in a significant loss of blood.

However, that wasnt the only thing they found. Tests also revealed that the ulcers were merely a symptom of a much larger problem that had likely been growing for months. Godsey was living with linitis plastica, a rare stomach cancer that spreads to the muscles of the stomach wall, causing it to harden and become rigid. While this aggressive cancer starts in the stomach, it quickly spreads to other organs, making treatment options limited and complex.

While this diagnosis was about to change Godseys life, she did not yet know the impact it would have on her loved ones as well.

Linitis plastic represents from 5 percent to 10 percent of all gastric cancers, and a slight increase in cases has been observed over the past few years. This may be attributed to improved diagnostic tools, says Luidmila Schafer, M.D., a medical oncologist and assistant professor in the UAMS College of Medicine Department of Internal Medicine.

Our knowledge and ability to diagnose rare cancers has improved significantly in recent years, so conditions such as linitis plastica may not have been diagnosed with such precision in the past, she explains.

Godsey was referred by her physician in El Dorado to a cancer center out of state, where she immediately went for evaluation. After confirming her diagnosis, she was given the news that the cancer had already spread to her abdomen and the preferred surgical treatment was no longer an option. However, she was a candidate for aggressive chemotherapy.

Because her out-of-state physician received his fellowship training in the UAMS Hematology/Oncology Fellowship program, he was aware of the UAMS Winthrop P. Rockefeller Cancer Institute and its comprehensive treatment programs. He told Godsey that she could return to Arkansas and receive chemo at the Cancer Institute close to home.

Referrals were made and Godsey arrived for her first appointment at UAMS in June, about one month after her diagnosis. Unfortunately, good news did not await her. Godsey had developed sepsis as the result of an infection, resulting in a week-long hospitalization and postponement of the start of chemotherapy.

It was a tough start, said Godseys daughter, Courtney Cassinelli, adding that after the infection cleared, her mom was able to begin two types of chemo given simultaneously under Schafers supervision.

While the treatment has been tough, Godsey is thankful for her good days and the time shes been given.

I could have lived for only a short time, but Ive made it two years thanks to Dr. Schafers care. What she has done for me has been remarkable, she said.

A Family Connection

At about the same time that Godsey was coming to terms with her diagnosis of stage 4 stomach cancer in 2015, her first cousin, Anita Meek, was getting the news that she had been diagnosed with lobular breast cancer. This form of breast cancer makes up only about 10 percent of invasive breast cancers and typically doesnt form a lump, making it less likely to be detected on a mammogram.

Having lost a young son to cancer, Meek, who lives in Harrison, decided to undergo genetic testing to see if there might be an inherited genetic component to their conditions. Schafer also recommended that Godsey undergo genetic testing at the UAMS Cancer Genetics Clinic due to the rarity of her cancer and the known link between linitis plastica and the CDH1 gene mutation.

As the only cancer genetics clinic in Arkansas, we see people with rare cancers, early-onset cancers or unusual presentations of cancer from across the state and region, said Kent McKelvey, M.D., director of Cancer and Adult Genetic Services and associate professor of family medicine and genetics in the UAMS College of Medicine.

UAMS has the only board-certified geneticists who diagnose, manage and treat complex cancer syndromes, of which there are more than 50. Cancer genetics counselors work with the geneticist and are a vital part of the team to help families understand their genome and its implications in cancer prevention.

Although any doctor can order genetic testing which is conducted using a blood or saliva sample the process can be daunting. Abnormal results must be put into context for a specific patient and family in this rapidly changing field and no two cases are the same.

When both Godsey and Meek were found to have the CDH1 gene mutation it only took minutes for McKelvey to conclude it was passed to them by their fathers, who were brothers.

A person doesnt inherit cancer from their parents. However, they can inherit the predisposition to cancer. Thats what happened in this family. The CDH1 gene mutation that Mrs. Godsey and Mrs. Meek have increases their risk of developing linitis plastica by about 80 percent and lobular breast cancer by about 40 percent, McKelvey said.

There also is, to a lesser extent, an increased risk of colon cancer associated with CDH1.

Moving Forward

Armed with this information, Meek underwent a double mastectomy at a hospital near her Northwest Arkansas home and continues to be followed twice yearly at Highlands Oncology Group (HOG). The UAMS Cancer Institute and HOG formed a partnership in 2013 that provides expanded access to clinical trials and advanced treatment options to residents of Northwest Arkansas.

Because Godsey and Meek now knew they carried the CDH1 mutation, they also knew their adult children could choose to undergo genetic testing to determine if they had inherited it as well. When someone carries a gene mutation, they have a 50-50 chance of passing that mutation along to each of their children.

My sister and I were both tested at UAMS. My test came back negative, but hers was positive, said Cassinelli. Because Cassinelli does not carry the gene mutation, there is no need to test her children. Once the line is broken, it does not reappear in subsequent generations.

As for Kelly Cameron, Godseys eldest daughter, the positive result set in motion a series of completely unexpected and life-changing decisions.

Because there is no screening method for stomach cancer, it is often found in its late stages after it has already spread to other organs, which was the case with Godsey. The only way to prevent a person with the CDH1 gene mutation from developing stomach cancer is to undergo a procedure called total gastrectomy, which involves removing the stomach and extending the small intestine up to meet the esophagus. With time, the small intestine makes a small pouch mimicking the stomach.

Because food now passes directly into the small intestine when it is consumed, side effects such as bloating, nausea, vomiting, cramps and diarrhea following total gastrectomy are common in the first few months.

Although it is possible to adjust to the new diet and small meals required following total gastrectomy, the surgery also has an impact on a persons physical, social and emotional health, Schafer said.

Due to her young age and the high likelihood that she would develop this rare cancer in her lifetime, the 41-year-old Cameron decided that, regardless of the side effects, total gastrectomy was her best option.

While it has been a challenging transition since her surgery in February 2016, each month becomes a little bit easier for Cameron. The first year is traumatic to your body. Your stomach is a major player and suddenly its gone. You cant fully understand what thats like unless you experience it yourself, she said.

Ultimately, however, the body adapts to its new situation and the symptoms subside. Its a new normal, Cameron said, adding that she has essentially relearned how and what to eat, in addition to taking vitamin supplements that ensure she meets her daily nutritional needs.

Although Meek also is at risk of developing linitis plastica, she elected to forego total gastrectomy for now. If I were younger, I may have chosen that path as well. Instead, Im seeing my doctor regularly and hoping that any signs of cancer will be found early, she said.

Additional Prevention

While still adjusting to her total gastrectomy, Cameron also decided in December 2016 to undergo a bilateral prophylactic mastectomy by having both breasts removed before there was any evidence of cancer.

According to the National Cancer Institute, this surgery will reduce her risk of developing breast cancer by at least 95 percent. The surgery was performed in December 2016 by V. Suzanne Klimberg, M.D., who was then director of the UAMS Breast Cancer Program.

She will soon finish the breast reconstruction process led by plastic surgeon Eric Wright, M.D., associate professor in the UAMS College of Medicine Division of Plastic and Reconstructive Surgery.

Cameron is thankful the surgical options were presented to her by McKelvey after completing her genetic test.

He was a straight shooter. He told me exactly what I needed to do if I wanted to eliminate the chance of developing these cancers, she said.

She also is thankful to have gone ahead with the surgeries at a young age, as the total gastrectomy revealed stage 1 cancer already formed in the lining of her stomach, as well as precancerous cells in one breast.

If not for that genetic test and Dr. McKelveys guidance, I would have had a much earlier onset of disease than my mom did. Knowing my genetic makeup saved my life, she said.

Next Steps

Now that her surgeries are complete, next on Camerons list is yearly colonoscopies at UAMS to screen for early signs of colon cancer. Thankfully there is a successful screening method for colon cancer, so no preventative surgery is needed there, she said.

Then, after her son turns 18, he will have the opportunity to undergo genetic testing at UAMS for the CDH1 gene mutation and make his own decisions based on those findings. Some of Godseys siblings and other relatives also have agreed to undergo testing to see if they carry the gene and may have passed it to their children.

In addition to providing individuals with knowledge about their personal health risks, genetic tests also assist researchers in better understanding cancer syndromes in the future.

Our ability to diagnose and understand cancer and other genetic syndromes is changing on a weekly basis. Because of this, we need the ability to bank and store individual genomes and tumor samples that can be compared and analyzed for a better understanding of how these syndromes work. As more samples are documented, our knowledge will continue to grow, says McKelvey.

Godsey and Cameron agree they found the right place to address their complex medical needs.

The Cancer Institute at UAMS has been wonderful. Theyve treated me not only like a patient, but more like a friend. Members of the staff have even called to check on me at home. I would never go anywhere but UAMS, Cameron said.

The University of Arkansas for Medical Sciences is the home of our states only academic health sciences center. With clinics covering nearly every medical specialty, our research and educational programs inspire new knowledge that results in better diagnosis and more advanced patient care. To learn more about UAMS or schedule an appointment with one of our physicians, visit uamshealth.com.

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Family with Cancer Syndrome Finds Hope at University of Arkansas for Medical Sciences - KATV