Category Archives: Genetic Medicine

Netherton syndrome, a rare skin disease caused by a single genetic mutation, is exacerbated by the presence of two common Staphylococcal bacteria living on human skin, one of which was previously thought to only offer protective properties, report University of California San Diego School of Medicine researchers.

Our study shows how closely tied the human genome is to the genetic information in our skin microbiome. This rare disease is due to a mutation in a human gene. But, in adults, the symptoms of the disease are driven by the skin microbiome, said senior author Richard Gallo, MD, PhD, Irma Gigli Distinguished Professor and chair of the Department of Dermatology at UC San Diego School of Medicine.

The two genomes work closely together. When one is off, even by a single gene, the other genome reacts.

In a multi-institutional study published online in Cell Reports on March 3, 2020, Gallo and collaborators identified how Staphylococcus aureus and Staphylococcus epidermidis can act as a catalyst for skin inflammation and barrier damage in mouse models.

S. aureus is a pathogenic bacteria known to aggravate skin conditions, such as atopic dermatitis. When it becomes resistant to antibiotics, it is known as methicillin-resistant Staphylococcus aureus or MRSA. It is a leading cause of death resulting from infection in the United States.

Conversely, S. epidermidis is common on healthy human skin and presumed benign. In a previous study, Gallo reported that a specific strain of this bacterium seemed to hold a protective property by secreting a chemical that kills several types of cancer cells but does not appear to be toxic to normal cells. S. epidermidis was also known to promote wound repair, skin immunity and limit pathogen infections. It was not known that, in some cases, S. epidermidis can have pathogenic effects.

Netherton syndrome is a result of a mutation in the SPINK5 gene, which normally provides instructions for making a protein called LEKT1. This protein is a type of protease inhibitor.

With the loss of LEKT1, excess proteases are stimulated by Staphylococcal bacteria on people with Netherton syndrome. This protease activity leads to a breakdown of proteins and skin inflammation.

This is a major breakthrough for these patients as it describes how we can treat a human genetic mutation by targeting the microbiome, said Gallo, who is also a faculty member in the Center for Microbiome Innovation at UC San Diego. Altering bacterial gene expression is much easier than trying to fix a mutation in humans.

Researchers swabbed the skin of 10 people with Netherton syndrome and found that their skin microbiome had an abundance of certain strains of S. aureus and S. epidermidis. However, unlike the skin of normal subjects, the excess bacteria produced genes that could not be controlled due to the gene mutation in Netherton syndrome.

According to the National Institutes of Health, most people with this recessive inherited genetic disorder have immune system-related problems, such as food allergies, hay fever, asthma, or an inflammatory skin disorder called eczema. It is estimated that 1 in 200,000 newborns are affected.

In addition to demonstrating how an abnormal skin microbiome promotes inflammation in Netherton syndrome, this study provides one of the most detailed genomic descriptions to date of the skin microbiome, said Gallo.

Co-authors include: Michael R. Williams, James A. Sanford, Livia S. Zaramela, Anna M. Butcher and Karsten Zengler of UC San Diego; Laura Cau, of UC San Diego and SILAB; Shadi Khalil, of UC San Diego and University of Virginia School of Medicine; Yichen Wang and Alain Hovnanian of Imagine Institute and Universit Paris Descartes-Sorbonne Paris Cit; Drishti Kaul and Christopher L. Dupont of J. Craig Venter Institute; and Alexander R. Horswill of Department of Veterans Affairs Denver Health Care System and University of Colorado Anschutz Medical Campus.

Funding for this research came, in part, from the National Institutes of Health (R37AI052453, R01AR076082, R01AR074302 and R01AR069653) and the Atopic Dermatitis Research Network (U19 AI117673).

Disclosure: Gallo is a co-founder, scientific advisor, consultant, and has equity in MatriSys Biosciences and is a consultant, receives income, and has equity in Sente. All other authors declare no competing interests.

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Presence of Staph Bacteria in Skin Microbiome Promotes Netherton Syndrome Inflammation - UC San Diego Health

U.S. government officials say a million promised tests for diagnosing coronavirus infections will soon be in the mail. But that still leaves many state and local laboratories without the ability to test for the virus, crucial for curbing its spread around the country.

Some states have developed their owntests. Clinical testing companies are now joining the ranks. LabCorpannounced March 5 that physicians or other authorized health careproviders could already order its test. QuestDiagnostics announced the same day that the company will also offercommercial tests as soon as March 9, pending U.S. Food and Drug Administrationreviews. Participation of those two commercial laboratories could greatlyexpand testing capacity in the United States.

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But for now, we still find ourselves asa country with pretty limited capacity to test, says Michael Mina, anepidemiologist at the Harvard T.H. Chan School of Public Health in Boston.

Heres what you need to know aboutcoronavirus testing in the country.

As of March 6, at least 45 states arenow doing testing for SARS-CoV-2, the virus that causes the disease. Wyoming,Oklahoma, Ohio, West Virginia and Maine as well as Guam, Puerto Rico and theVirgin Islands are listed as in progress of having labs certified to dotesting, according to the U.S. Centers for Disease Control and Prevention. Evenstates that have tests may have only a single kit, containing enough materialto test just 700 people, Mina says.

As of March 5, 1,583 people had beentested at CDC. That figure doesnt include tests now going on in many state orcommercial laboratories, which began this week. Contrast that with the UnitedKingdom, where 20,388 people have been tested as of March 6. Only 163 cases ofCOVID-19 have been detected there. Switzerland, which had 181 cases and onedeath as of March 6, has tested more than 3,500 people.

In the United States, more than 250people in at least 23 states had confirmed cases of the coronavirus diseaseknown as COVID-19, and 14 had died, as of March 6. More cases can be expectedas testing ramps up, experts say.

As more cases are found, healthofficials will need to test contacts of people who carry the virus, and otherill people in affected communities may demand tests, all escalating the needfor more tests.

Vice President Mike Pence told reporters March 5, We dont have enough tests today to meet what we anticipate will be the demand going forward, according to CNN. But having companies tests in the mix could help testing ramp up relatively quickly.

To get a more complete picture of howwidespread the virus is in the United States, were going to needmillions and millions and millions of tests, said Anthony Fauci, directorof the National Institute of Allergy and Infectious Diseases in Bethesda, Md.,during a CNN town hall on March 5.

Health professionals will swab apersons nose or throat, collect phlegm coughed up from the lungs, or squirtliquid into the nose, throat or lungs and collect the liquid again for testing.Neither Quest nor LabCorp will collect such specimens, but doctors or otherhealth providers may send samples to the labs for testing.

Then, those samples are analyzed in a laboratory, where technicians must extract and purify the viruss genetic material from the mucus, cell debris and other stuff in the samples.That sample preparation process is usually the biggest bottleneck [in testing], says Brent C. Satterfield, founder and chief scientific officer of Co-Diagnostics, a company based in Salt Lake City and Gujarat, India, that has developed its own coronavirus test. That test can be used clinically in Europe, but has not yet been approved for use in the United States, although other labs can use components of the companys test to build their own diagnostic tests.

All of the coronavirus tests being usedby public health agencies and private labs around the world start with atechnique called polymerase chain reaction, or PCR, which can detect tinyamounts of a viruss genetic material. SARS-CoV-2, the virus that causesCOVID-19, has RNA as its genetic material. That RNA must first be copied intoDNA. Thats a lengthy part of the process, too, says Satterfield, adding 15to 30 minutes to the test.

After that, the PCR can begin. Theprocess makes millions to billions of copies of selected segments of DNA. Inthe case of the coronavirus, the CDCs original test scanned for three of theviruss genes, but now tests for two. The World Health Organizations test,developed by infectious disease researcher Christian Drosten at the Charit UniversittsmedizinBerlin and colleagues, tests for three genes but is a bit different than theCDC tests. The PCR step typically takes 45 minutes to an hour, Satterfieldsays.

Some assays give instant yes or noreadings, but others may also take time to analyze. All together, it may takeabout three hours to complete a test, Satterfield estimates.

PCR tests are not simple enough to do ina doctors office.

In the United States, a doctor is nowallowed to decide if a test is warranted and collect the sample, but then mustship the sample off for other trained professionals to prepare and test.

Testing was initially limited to onlythose people with symptoms and a travel history to an affected area or contactwith a known case. On March 4, the CDCrelaxed some restrictions on who can get tested. People still haveto be sufficiently sick and have failed a flu test in order to qualify forcoronavirus testing, Mina says.

In some states, the positive test results arecalled presumptive positives until the CDC can confirm them. In those cases,the final official result may take days. LabCorp estimates that it will takethree to four days to return results to physicians.

Many doctors offices can do a rapid influenzatest. But those flu tests dont use PCR, Satterfield says. Instead, they detectproteins on the surface of the influenza virus. While the test is quick andcheap, its also not nearly as sensitive as PCR in picking up infections,especially early on before the virus has a chance to replicate, he says. By theCDCs estimates, rapid influenza tests may miss 50 percent to 70 percent ofcases that PCR can detect. The low sensitivity can lead to many false negativetest results.

Flu tests also arent as specific for aparticular virus strain as PCR is. About 5 percent to 10 percent of the time,flu tests may mistake a different virus for the flu, creating a false positiveresult. Specificity is a big deal when youre testing large numbers of peoplewho arent expected to be positive, Satterfield says. If youre going to testin one of the states that doesnt have a coronavirus outbreak right now, with aspecificity of 90 percent, 10 out of every 100 people are going to show uppositive even though the coronavirus isnt there yet.

Accurate diagnosis is a very highimperative for this [coronavirus], Satterfield says.

An additional benefit of a PCR test isthat it may be able to detect viruses earlier in an infection than a flu-style testcan, he says, perhaps not in the first day, but a couple of days into aninfection when the virus is replicating strongly, but the bodys immune systemhasnt yet begun to fight and produce symptoms. In every infectious disease Iknow of, that is the most contagious period for a person; the point in timewhen the virus has multiplied to its maximum capacity and the body has not yetstarted to rein in on it, Satterfield says. Being able to identify people inthat period and isolate them from others could help curb the spread of thedisease.

Delays started with a manufacturing flawin the CDCs original PCR test, which caused components that detect one of the threetargeted viral genes to not work properly, the health agency says.

Those woes sound like user error to Co-DiagnosticsSatterfield. A lot of what they are seeing is probably due to inconsistent usein the field, he says. Tests that work phenomenally well in the lab, whenthey are sent to the field, sometimes just dont work the same, he says.

Co-Diagnostics test also uses PCR buttests for only one gene versus three. Sometimes the more complexity you havein a test, the more things you have that can go wrong, Satterfield says.

Some delays in getting testing off theground came from emergency measures enacted by the FDA, Satterfield says. Normally,big medical testing labs, such as state health labs and companies like LabCorpand Quest Diagnostics, are allowed to develop and validate their own tests. Butwhen the coronavirus was declareda public health emergency on January 31, labs needed emergencyuse authorization before using their tests to diagnose cases. Eventhe CDC had to get permission to use its test. But on February 29, FDAannounced that labs could devise their own tests and use them clinically whilewaiting for the agency to review their applications. FDA does not intend toobject to the use of these tests for clinical testing while the laboratoriesare pursuing an EUA, the agency saidin a statement.

It looks like there were some prettylarge blunders that led to some serious delays, says Mina, the epidemiologistat Harvard. Instead of reducing the amount of testing at the start of anepidemic we should have been expanding it as quickly as possible and callingfor all hands on deck, he says.

Those delays and the initial limitationson who could be tested may have allowed some cases to slip through the cracksand start community outbreaks in Washington and California.

It will vary from place to place. If you have symptoms of COVID-19 fever, dry cough and often fatigue contact your doctor or local or state health department for more information. Do not go to the emergency room for testing, officials say.

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What you need to know about coronavirus testing in the U.S. - Science News

An emergency room physician, initially unable to diagnose a disoriented patient, finds on the patient a wallet-sized card providing access to his genome, or all his DNA. The physician quickly searches the genome, diagnoses the problem and sends the patient off for a gene-therapy cure. Thats what a Pulitzer prize-winning journalist imagined 2020 would look like when she reported on the Human Genome Project back in 1996.

The Human Genome Project was an international scientific collaboration that successfully mapped, sequenced and made publicly available the genetic content of human chromosomes or all human DNA. Taking place between 1990 and 2003, the project caused many to speculate about the future of medicine.

In 1996, Walter Gilbert, a Nobel laureate, said, The results of the Human Genome Project will produce a tremendous shift in the way we can do medicine and attack problems of human disease. In 2000, Francis Collins, then head of the HGP at the National Institutes of Health, predicted, Perhaps in another 15 or 20 years, you will see a complete transformation in therapeutic medicine. The same year, President Bill Clinton stated the Human Genome Project would revolutionize the diagnosis, prevention and treatment of most, if not all, human diseases.

It is now 2020 and no one carries a genome card. Physicians typically do not examine your DNA to diagnose or treat you. Why not? As I explain in a recent article in the Journal of Neurogenetics, the causes of common debilitating diseases are complex, so they typically are not amenable to simple genetic treatments, despite the hope and hype to the contrary.

The idea that a single gene can cause common diseases has been around for several decades. In the late 1980s and early 1990s, high-profile scientific journals, including Nature and JAMA, announced single-gene causation of bipolar disorder, schizophrenia and alcoholism, among other conditions and behaviors. These articles drew massive attention in the popular media, but were soon retracted or failed attempts at replication. These reevaluations completely undermined the initial conclusions, which often had relied on misguided statistical tests. Biologists were generally aware of these developments, though the follow-up studies received little attention in popular media.

There are indeed individual gene mutations that cause devastating disorders, such as Huntingtons disease. But most common debilitating diseases are not caused by a mutation of a single gene. This is because people who have a debilitating genetic disease, on average, do not survive long enough to have numerous healthy children. In other words, there is strong evolutionary pressure against such mutations. Huntingtons disease is an exception that endures because it typically does not produce symptoms until a patient is beyond their reproductive years. Although new mutations for many other disabling conditions occur by chance, they dont become frequent in the population.

Instead, most common debilitating diseases are caused by combinations of mutations in many genes, each having a very small effect. They interact with one another and with environmental factors, modifying the production of proteins from genes. The many kinds of microbes that live within the human body can play a role, too.

Since common serious diseases are rarely caused by single-gene mutations, they cannot be cured by replacing the mutated gene with a normal copy, the premise for gene therapy. Gene therapy has gradually progressed in research along a very bumpy path, which has included accidentally causing leukemia and at least one death, but doctors recently have been successful treating some rare diseases in which a single-gene mutation has had a large effect. Gene therapy for rare single-gene disorders is likely to succeed, but must be tailored to each individual condition. The enormous cost and the relatively small number of patients who can be helped by such a treatment may create insurmountable financial barriers in these cases. For many diseases, gene therapy may never be useful.

The Human Genome Project has had an enormous impact on almost every field of biological research, by spurring technical advances that facilitate fast, precise and relatively inexpensive sequencing and manipulation of DNA. But these advances in research methods have not led to dramatic improvements in treatment of common debilitating diseases.

Although you cannot bring your genome card to your next doctors appointment, perhaps you can bring a more nuanced understanding of the relationship between genes and disease. A more accurate understanding of disease causation may insulate patients against unrealistic stories and false promises.This article is republished from The Conversation under a Creative Commons license. Read the original article.

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Why Sequencing the Human Genome Failed to Produce Big Breakthroughs in Disease - Discover Magazine

The Stanford Medicine Clinical Virology Laboratory launched a new diagnostic test for detecting coronavirus on Wednesday. The new test, which can deliver results within 12 to 24 hours, will rapidly identify infected people and could help limit the spread of the virus.

The test is currently in use only on patients at Stanford Health Care and Stanford Childrens Health suspected of having the SARS-CoV-2 virus. The test was validated by the Food and Drug Administration (FDA) and Clinical Laboratory Improvement Amendments (CLIA) for testing involving human subjects.

The lab that developed the test is led by Benjamin Pinsky, associate professor of pathology and infectious diseases at the Stanford School of Medicine.

Testing is essential because it helps to identify both asymptomatic carriers and infected people, Pinsky told The Daily. These results then inform treatment, quarantine and the allocation of vital medical resources.

The sooner we know a patient is positive, the sooner we can take the right action to provide care and take steps to ensure the safety of people they came into contact with, whether thats health care providers or the patients loved ones, Pinsky wrote in an email to The Daily.

According to the Stanford Medicine News Center, it is not yet clear how long a patient needs to be infected before testing positive and whether someone not yet showing symptoms could test positive.

While the situation continues to evolve, rapid identification of infected people could help limit the spread of the virus, Pinsky wrote. Public health experts have indicated that prompt identification and quarantine of infected people is critical to limiting the spread of the virus.

Pinsky and his team began developing the test in late January, as they worked to optimize previous coronavirus tests for current U.S. testing guidelines.

The test uses a technique called real-time RT-PCR to detect the presence of genetic material in samples obtained from nasal swabs of potentially infected people, Pinsky wrote.

He added that the test screens for two viral genes.

The first encodes a protein called an envelope protein, which is found in the membrane that surrounds the virus, Pinsky wrote. It then confirms the positive result by testing for a gene encoding a second protein called RNA-dependent RNA polymerase.

The release of this test comes on the heels of an announcement from the Federal Drug Administration (FDA) that now allows in-house diagnostic testing without FDA approval. Previously, all nasal swabs had to be sent to public health agencies for further testing.

The release also came one day before Stanford President Marc Tessier-Lavigne confirmed that Stanford Medicine is currently caring for a few patients who have tested positive for COVID-19 in a statement to the University community on Thursday.

Our hospitals and clinics on campus provide essential health care for the people of our region, Tessier-Lavigne wrote.

This article has been corrected to reflect the correct technique used by the test to detect genetic material. The Daily regrets this error.

Contact Emma Talley at emmat332 at stanford.edu and Ujwal Srivastava at ujwal at stanford.edu.

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Stanford-developed coronavirus test to be used at Stanford Hospital - The Stanford Daily

Struggling with dementia (Clara Margais/Dreamstime/TNS)

Do I know Im at risk for developing dementia? You bet.

My father died of Alzheimers disease at age 72; my sister was felled by frontotemporal dementia at 58.

And thats not all: Two maternal uncles had Alzheimers, and my maternal grandfather may have had vascular dementia. (In his generation, it was called senility.)

So what happens when I misplace a pair of eyeglasses or cant remember the name of a movie I saw a week ago? Now comes my turn with dementia, I think.

Then I talk myself down from that emotional cliff.

Am I alone in this? Hardly. Many people, like me, whove watched this cruel illness destroy a family member, dread the prospect that they, too, might become demented.

The lack of a cure or effective treatments only adds to the anxiety. Just last week, news emerged that another study trying to stop Alzheimers in people at extremely high genetic risk had failed.

How do we cope as we face our fears and peer into our future?

Andrea Kline, whose mother, as well as her mothers sister and uncle, had Alzheimers disease, just turned 71 and lives in Boynton Beach, Fla. Shes a retired registered nurse who teaches yoga to seniors at community centers and assisted-living facilities.

I worry about dementia incessantly. Every little thing that goes wrong, Im convinced its the beginning, she told me.

Because Kline has had multiple family members with Alzheimers, shes more likely to have a genetic vulnerability than someone with a single occurrence in their family. But that doesnt mean this condition lies in her future. A risk is just that: Its not a guarantee.

The age of onset is also important. People with close relatives struck by dementia early before age 65 are more likely to be susceptible genetically.

Kline was the primary caregiver for her mother, Charlotte Kline, who received an Alzheimers diagnosis in 1999 and passed away in 2007 at age 80. I try to eat very healthy. I exercise. I have an advance directive and Ive discussed what I want (in the way of care) with my son, she said.

Lately, Ive been thinking I should probably get a test for APOE4 (a gene variant that can raise the risk of developing Alzheimers), although Im not really sure if it would help, Kline added. Maybe it would add some intensity to my planning for the future.

I spoke to a half-dozen experts for this column. None was in favor of genetic testing, except in unusual circumstances.

Having the APOE4 allele (gene variant) does not mean youll get Alzheimers disease. Plenty of people with Alzheimers dont have the allele, said Mark Mapstone, a professor of neurology at the University of California, Irvine. And conversely, plenty of people with the allele never develop Alzheimers.

Tamar Gefen, an assistant professor of psychiatry and behavioral sciences at Northwestern Universitys Feinberg School of Medicine, strongly suggests having an in-depth discussion with a genetic counselor if youre considering a test.

Before you say I have to know, really understand what youre dealing with, how your life might be affected, and what these tests can and cannot tell you, she advised.

Karen Larsen, 55, is a social worker in the Boston area. Her father, George Larsen, was diagnosed with vascular dementia and Alzheimers at age 84 and died within a year in 2014.

Larsen is firm: She doesnt want to investigate her risk of having memory or thinking problems.

Ive already planned for the future. I have a health care proxy and a living will and long-term care insurance. Ive assigned powers of attorney and Ive saved my money, she said. Eating a healthy diet, getting exercise, remaining socially engaged I already do all that, and I plan to as long as I can.

What would I do if I learned some negative from a test sit around and worry? Larsen said.

Currently, the gold standard in cognitive testing consists of a comprehensive neuropsychological exam. Among the domains examined over three to four hours: memory, attention, language, intellectual functioning, problem-solving, visual-spatial orientation, perception and more.

Brain scans are another diagnostic tool. CT and MRI scans can show whether parts of the brain have structural abnormalities or arent functioning optimally. PET scans (not covered by Medicare) can demonstrate the buildup of amyloid proteins a marker of Alzheimers. Also, spinal taps can show whether amyloid and tau proteins are present in cerebrospinal fluid.

A note of caution: While amyloid and tau proteins in the brain are a signature characteristic of Alzheimers, not all people with these proteins develop cognitive impairment.

Several experts recommend that people concerned about their Alzheimers risk get a baseline set of neuropsychological tests, followed by repeat tests if and when they start experiencing worrisome symptoms.

When it comes to thinking and memory, everyone is different, said Frederick Schmitt, a neurology professor at the University of Kentucky. Having baseline results is very helpful and allows us to more carefully measure whether, in fact, significant changes have occurred over time, he said.

Nora Super, senior director of the Milken Institute Center for the Future of Aging, watched her father, Bill Super, and all three of his siblings succumb to Alzheimers disease over the course of several years falling, she said, like a row of dominoes.

One of her sisters was tested for the APOE4 genetic variant; results were negative. This is no guarantee of a dementia-free future, however, since hundreds of genes are implicated in Alzheimers, Lewy body dementia, frontotemporal dementia and vascular dementia.

Rather than get genetic or neuropsychological tests, Super has focused on learning as much as she can about how to protect her brain. At the top of the list: managing her depression as well as stress. Both have been linked to dementia.

Also, Super exercises routinely and eats a MIND-style diet, rich in vegetables, berries, whole grains, nuts, fish and beans. She is learning French (a form of cognitive stimulation), meditates regularly and is socially and intellectually active.

According to a growing body of research, physical inactivity, hearing loss, depression, obesity, hypertension, smoking, social isolation, diabetes and low education levels raise the risk of dementia. All of these factors are modifiable.

What if Super started having memory problems? I fear I would get really depressed, she admitted. Alzheimers is such a horrible disease: To see what people you love go through, especially in the early stages, when theyre aware of whats happening but cant do anything about it, is excruciating. Im not sure I want to go through that.

Gefen of Northwestern said she tells patients that if (cognitive testing) is something thats going to stress you out, then dont do it.

Nigel Smith, 49, had a change of heart after caring for his mother, Nancy Smith, 81, whos in hospice care in the Boston area with Alzheimers. When he brought his mother in for a neuropsychological exam in early 2017 and she received a diagnosis of moderate Alzheimers, she was furious. At that point, Nancy was still living in the familys large home in Brookline, Mass., which she refused to leave.

Eventually, after his mother ended up in the hospital, Smith was given legal authority over her affairs and he moved her to a memory care unit.

Now, shes deteriorated to the point where she has about 5% of her previous verbal skills, Nigel said. She smiles but she doesnt recognize me.

Does he want to know if something like this might lie in his future?

A couple of years ago, Smith said he was too afraid of Alzheimers to contemplate this question. Now hes determined to know as much as possible, not so much because Im curious but so I can help prepare myself and my family. I see the burden of what Im doing for my mother, and I want to do everything I can to ease that burden for them.

Kim Hall, 54, of Plymouth, Minn., feels a similar need for a plan. Her mother, Kathleen Peterson, 89, a registered nurse for over 50 years, was diagnosed with vascular dementia five years ago. Today, she resides in assisted living and doesnt recognize most of her large family, including dozens of nieces and nephews who grew up with Hall.

Hall knows her mother had medical issues that may have harmed her brain: a traumatic brain injury as a young adult, uncontrolled high blood pressure for many years, several operations with general anesthesia and an addiction to prescription painkillers. I dont share these, and that may work in my favor, she said.

Still, Hall is concerned. I guess I want to know if Im at risk for dementia and if there is anything I can do to slow it down, she said. I dont want what happened to my mother to happen to me. Probably, Hall speculated, shell arrange to take a neuropsychological exam at some point.

Several years ago, when I was grieving my sisters death from frontotemporal dementia, my doctor suggested that a baseline exam of this sort might be a good idea.

I knew then I wouldnt take him up on the offer. If and when my time with dementia comes, Ill have to deal with it. Until then, Id rather not know.

Kaiser Health News is a national health policy news service. It is an editorially independent program of the Henry J. Kaiser Family Foundation.

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Stalked by the fear that dementia is stalking you - Waterbury Republican American

Copy Cat was born Dec. 22, 2001.

Texas A&M College of Veterinary Medicine & Biological Sciences

CC, the worlds first cloned cat, has passed away at the age of 18 after being diagnosed with kidney failure.

CC, short for Copy Cat, passed away on March 3 in College Station, the same place where her life began as a result of groundbreaking cloning work done by Texas A&M University College of Veterinary Medicine & Biomedical Sciences (CVM) researchers.

CC was born Dec. 22, 2001, and was adopted by Dr. Duane Kraemer, a senior professor in the colleges Reproduction Sciences Laboratory, and his wife, Shirley, six months after her birth.

We in the CVM are saddened by the passing of CC. As the first cloned cat, CC advanced science by helping all in the scientific community understand that cloning can be effective in producing a healthy animal, said Dr. Eleanor M. Green, the Carl B. King dean of veterinary medicine at Texas A&M.

While she lived a long, normal, and happy life, CC was extraordinary in what she represented to the Kraemers, the CVM, and science as a whole, Green said. The entire CVM community mourns her loss, as all at Texas A&M cared deeply about her as a member of the Aggie family, and especially for the Kraemers, for whom CC was a beloved pet for 18 years.

CCs story began with Dr. Mark Westhusin, a CVM professor and the principal investigator of the Missyplicity Project, a $3.7 million effort to clone a mixed-breed dog named Missy that was owned by John Sperling, founder of the University of Phoenix.

When the news of the project spread, people around the country became interested in saving pets tissues that could possibly be used for cloning in the future. This demand resulted in the establishment of Genetic Savings and Clone (GSC), Inc., led by Sperlings colleagues Lou Hawthorne and Dr. Charles Long.

While GSC became a bank for these tissues, Westhusin and his team at Texas A&M began to explore the cloning of other pet species, specifically cats.

CC was produced using nuclear transfer of DNA from cells that were derived from a female domestic shorthair named Rainbow.

Copy Cat was adopted at six months old by Dr. Duane Kraemer, a senior professor in Reproduction Sciences Laboratory, and his wife, Shirley, six months after her birth.

Texas A&M College of Veterinary Medicine & Biological Sciences

Once it was clear the nuclear transfer was successful, Kraemer and other scientists transferred the embryos into a surrogate mother, who gave birth to a healthy kitten about two months later.

Though the cats were identical on a genetic level, developmental factors led them to have slightly different coat patterns and color distributions.

CCs passing makes me reflect on my own life as much as hers, Westhusin said. Cloning now is becoming so common, but it was incredible when it was beginning. Our work with CC was an important seed to plant to keep the science and the ideas and imagination moving forward.

CC also became one of the first cloned cats to become a mother. When CC was five years old, she gave birth to three kittens that lived with her for the rest of her life in a custom, two-story cat house in the Kraemers backyard.

CC was the biggest story out of A&M ever and still is, as far as international reach is concerned, Kraemer said. Every paper and magazine had pictures of her in it. She was one of the biggest accomplishments of my career.

While CC represented a great advancement in genetic research, to the Kraemers, she was also a beloved pet. She will be missed by them especially, but also by those at the CVM, Texas A&M and beyond who have followed her story since birth.

CC was a great cat and a real joy, Kraemer said. She was part of the family and very special to us. We will miss her every day.

Throughout her lifetime, CC regularly made news for her birth, pregnancy and each birthday. She proved to the world that cloned animals can live the same full, healthy lives as non-cloned animals, including being able to produce healthy offspring.

Before CC, no pet had ever been successfully cloned with 100 percent genetic identity.

The research that led to CCs birth kickstarted a global pet cloning industry led by ViaGen Pets, which today clones cats for $35,000 and dogs for $50,000.

Though CC was the first successfully cloned pet, Texas A&M has gone on to clone more species than any other institution in the world, including horses, pigs, goats, cattle and deer.

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