Category Archives: Genetic medicine

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

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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World's First Cloned Cat Dies - Texas A&M University Today

Maggie L. Shaw

Evolution. Disruption. Innovation. Telemedicine. A virtual exchange of information. Healthcare has lagged behind in these aspects, but its necessary to transcend time and distance, according to Susan Dentzer, senior policy fellow at the Duke-Margolis Center for Health Policy.

Dentzer spoke passionately about elevating the quality of cancer care delivery by changing the system and asking these questions:

Her biggest question of all: for healthcare that mainly involves exchanges of information, not the laying of hands, why isnt more of it done virtually today? Especially when study results show high levels of patient satisfaction, higher quality of life, less depression, and less stress with telehealth and tele-oncology.

According to Dentzer, its time to think outside the box, incorporating data and technology to elevate cancer care delivery. And she provided a telling question from her friend A. Mark Fendrick, MD, co-editor in chief of The American Journal of Managed Care, that illustrates how despite advancements in cancer care, obstacles to optimizing its delivery remain: Why do we have Star Wars medicine on a Flintstones delivery platform. Shouldnt we at least advance to The Jetsons?

What many dont realize is that telemedicine, at least the idea of it, has been around for decades. Since the late 1960s. During her presentation, Dentzer told of how Kenneth D. Bird, MD, a former internist and pulmonary specialist at Massachusetts General Hospital, developed the first telemedicine system between Logan Airport and Mass General in 1968, with a second link in 1970. However, the system was abandoned in the 1970s.

A common theme that ran throughout her presentation was that its time for healthcare and cancer care to move outside the conventional walls of practices. To not be afraid of innovation. To move closer to patients where they are in their homes and communities. To elevate the quality of cancer care to such a level that it minimizes the amount of time people have to be in the hospital. But doing so first means addressing several important challenges:

So, what can we do? What are some examples of where opportunities to innovate in medicine lie?

Tele-oncology. This has already been shown to improve access to care and decrease costs, Dentzer noted. And with oral cancer drugs and immunotherapies being delivered on an outpatient basis in some instance, tele-oncology can help in this space by providing remote supervision of chemotherapy, thereby preventing unnecessary trips to the hospital or doctors office.

For example, Boston Universitys Biomedical Optical Technologies Lab (BOTLab) has developed a wearable probe, now in clinical trials, that uses near-infrared spectroscopy to measure hemoglobin, metabolism, water, and fat levels in tumors. The University of Arizona created its telemedicine program in 1996 and introduced tele-mammography between rural locations and the university in the early 2000s; womens images from a remote location are analyzed within 45 minutes at the university. Lastly, in 1995, Kansas University Medical Center instituted its first tele-oncology program with a multidisciplinary team that is 250 miles from a rural medical center, which itself has nurses.

Tele-genetics. Abramson Cancer Center in Philadelphia, Pennsylvania, offers genetic counseling in real-time, which can be accessed over the phone or through video conference. As this is a service that is not easy to always access, especially when patients are hundreds of miles away, making the counseling more portable can only serve to increase access to care.

Symptom management. Because not all patients need to be seen in the clinic, Seattle Cancer Care Alliance provides a web portal through which they can enter symptoms, and this will send an alert to their care team. And that alert leads to a phone call.

Provider education in immuno-oncology. This is especially needed foremergency medicine physicians. Telemedicine can increase engagement and communication between experienced oncologists and emergency medicine physicians who may have limited knowledge of immunotherapies and their adverse effects. It also provides opportunities for online learning and 24/7 access to critical care information.

Access to clinical trials. Denzler pointed out that almost 8 of 10 clinical trials can be delayed, even closed, because recruitment takes too long. Telemedicine can remedy this by expediting patients access to clinical trials through automated platforms.

I would argue that the status quo is not an option. You need to take advantage of these capabilities really fast, Dentzer noted.

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Thinking Outside the Box to Elevate, Increase Access to Cancer Care - AJMC.com Managed Markets Network

Jeff Boyd will be serving as vice president and chief scientific officer and director of the Center for Genomic Medicine at Northwell Health Systems Cancer Institute in Lake Success. He will also hold an appointment as professor and member of the Cold Spring Harbor Laboratory Cancer Center.

Boyd, who began in his position on Feb. 10, was working at the Miami Cancer Institute when he received the offer from Northwell.

It sounded like a great opportunity, Boyd said. Part of it involved being director of the Center for Genomic Medicine, being chief of science for the Cancer Institute, working at the Cold Spring Harbor lab, strengthening that relationship, providing them access to oncologists here, as well as tissue specimens and such that they need in a cancer research lab.

Part of the doctors job will involve the creation of a clinical laboratory and molecular diagnostic lab certified by the Department of Health, where researchers can obtain tumor specimens from cancer patients, isolate DNA and use a state-of-the-art technology known as next-generation DNA sequencing to define genetic architecture of a specific tumor in an individual.

Every breast cancer is different, liver cancer is different, colon cancer is different by the person, Boyd said.

The institute is also looking into the mutations that cause normal cells to turn cancerous, matching certain mutations to specific drugs in a way that Boyd likens to a lock and key.

Were at a point now in our understanding of cancer genetics in drugs being developed that we can match specific drugs precision cancer medicine match a drug to a mutation in that patients tumor, and it stops what its doing to make a normal cell a cancer cell, Boyd said. Thats whats looking to replace chemotherapy. Most of the therapy is nontoxic, it would describe mutations in tumor and any drugs available for that mutation, and thats the future of cancer treatment.

Another operational unit has to do with banking cancer specimens and fluids like blood and urine from cancer patients, where a state-of-the-art specimen vial depository that will take samples ranging from tumor tissue, blood, and urine, all connected to electronic med record.

The days of taking small bits of tumor or vials of blood and putting them in freezer are gone, Dr. Boyd said.

These specimens will be available to any researchers in the Northwell system, as well as those in the Cold Spring Harbor laboratory.

Our colleagues at Cold Spring Harbor are important to the success of our work, Dr. Boyd said.

Dr. Richard Barakat, physician-in-chief and director of the Northwell Health Cancer Institute and senior vice president of cancer services at Northwell Health, had worked with Dr. Boyd at Memorial Sloan Kettering Cancer Center.

Genomics has become an important piece to helping us understand the genetic roots of the various forms of cancer, which is why it has become an important area of investment for Northwell Health, Barakat said. We are extremely fortunate to have such an esteemed cancer researcher and internationally-known genomics expert such as Boyd to join the Cancer Institutes leadership team.

Boyd has over 30 years of cancer research experience, most recently serving on the executive leadership team of the Miami Cancer Institute at Baptist Health South Florida as associate deputy director of translational research and genomic medicine.

He also served as a professor and chair of the department of human and molecular genetics, professor of obstetrics and gynecology, and associate dean for basic research and graduate programs at the Herbert Wertheim College of Medicine at Florida International University.

Prior to joining the Miami Cancer Institute in 2015, Dr. Boyd held senior leadership positions at prominent cancer centers across the country, serving as the first executive officer of the Cancer Genome Institute at the Fox Chase Center in Philadelphia, Penn.

He also held numerous senior positions at Memorial Sloan-Kettering Cancer Center and served as a faculty member at the University of Pennsylvania and the National Institutes of Health.

Boyd says he and his wife are in the process of moving and hope to live in Lloyd Harbor, close to the Cold Spring Harbor laboratories.

I like to build things, Dr. Boyd said. Ive been in this cancer research and clinical care space for decades, and there is unparalleled opportunity here.

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Boyd named chief scientific officer at Cancer Institute - News - The Island Now

For Immediate Release: February 21, 2020

The U.S. Food and Drug Administration today authorized marketing of the first test to detect a genetic condition known as Fragile X Syndrome (FXS), the most common known cause of inherited developmental delay and intellectual disability. The test is intended as an aid in diagnosing FXS and is to be used along with the evaluation of a patients family history and clinical signs and symptoms of FXS. Additionally, this test is intended for use in adults who may be carriers of genetic alterations in the gene associated with FXS, called the FMR1 gene.

This novel diagnostic provides doctors and their patients the first FDA authorized genetic test to aid in diagnosing Fragile X Syndrome, as well as helping parents know their risk of having a child with Fragile X Syndrome, said Wendy Rubinstein, M.D., Ph.D., director of personalized medicine in the Office of In Vitro Diagnostics and Radiological Health at the FDAs Center for Devices and Radiological Health. Early diagnosis is key to helping children affected with Fragile X Syndrome through early intervention.

According to the Centers for Disease Control and Prevention, approximately 1 in 4,000 males and 1 in 8,000 females in the U.S. have FXS, which is a genetic disorder caused by changes in the FMR1 gene located on the X chromosome. A segment of the DNA in the gene, known as a CGG trinucleotide repeat, is repeated in excess on the X chromosome in individuals with this disorder. While some repetition of the CGG repeat is normal, a high number of repeats may indicate potential health risks. The AmplideX Fragile X Dx and Carrier Screen Kit uses blood specimens from patients to measure the number of repeats of the CGG segment in the FMR1 gene. The test can determine whether a patient has a number of CGG repeats that is considered either normal, intermediate, premutation or full mutation.

Individuals with a full mutation typically have FXS, which is associated with developmental delays, learning disabilities, social and behavioral issues, intellectual disabilities and autism spectrum disorder. Women with a premutation have an increased risk of having a child with FXS as compared to women without a premutation. The number of women who have the Fragile X premutation is believed to be approximately 1 in 150 women. Men with a premutation will pass the premutation to their daughters only. Individuals with normal or intermediate levels of repeated CGG segments are currently thought to be asymptomatic for FXS or other fragile X-associated disorders.

In addition to aiding in the diagnosis of FXS and for carrier testing, this test can be used as an aid in the diagnosis of fragile X-associated disorders, including fragile X-associated tremor/ataxia syndrome, which is a movement and cognitive disorder that typically occurs in adults over age 50, and fragile X-associated primary ovarian insufficiency, a condition that is characterized by reduced function of the ovaries. The AmplideX Fragile X Dx and Carrier Screen Kit is not intended for use in fetal diagnostic testing, the screening of eggs obtained for in-vitro fertilization prior to implantation, or standalone diagnoses of FXS.

The FDA reviewed data for this test through the de novo classification process, a regulatory pathway for low- to moderate-risk devices of a new type. During this process, the FDA evaluated data from specimens collected at three clinical sites to assess the accuracy of the test. The data demonstrated that the diagnostic accuracy of the test is greater than 95%.

Along with this authorization, the FDA is establishing criteria, called special controls, that test developers must meet for tests of this type, including requirements relating to labeling and performance testing. These special controls, when met along with general controls, provide a reasonable assurance of safety and effectiveness for tests of this type. This action also creates a new regulatory classification, which means that subsequent devices of the same type with the same intended use may go through the FDAs 510(k) pathway, whereby devices can obtain clearance by demonstrating substantial equivalence to a predicate device.

The FDA granted marketing authorization of the AmplideX Fragile X Dx and Carrier Screen Kit to Asuragen Inc.

The FDA, an agency within the U.S. Department of Health and Human Services, protects the public health by assuring the safety, effectiveness, and security of human and veterinary drugs, vaccines and other biological products for human use, and medical devices. The agency also is responsible for the safety and security of our nations food supply, cosmetics, dietary supplements, products that give off electronic radiation, and for regulating tobacco products.

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FDA Authorizes Marketing of the First Genetic Test to Aid in the Diagnosis of Fragile X Syndrome - FDA.gov

Waldron has already lived considerably longer she turns 19 on March 1. She credits lonafarnib, an experimental medication shes taken since 2007 in clinical trials at Boston Childrens Hospital. A California drug firm plans to complete its application for approval by March 31, with the hope of a favorable ruling from the Food and Drug Administration by years end. It would be the first approved drug for the ultra-rare disease.

Its been proven that it helps in extending life, Waldron, a Deerfield native, said recently over hot chocolate at Caffe Nero near Emerson. Im almost 19. The life span is technically 14. A winsome smile brightened her face. Looks like its doing a good job.

Since 2007, Childrens Hospital has run four clinical trial of lonafarnib. Waldron has participated in all four, and researchers say the results are encouraging.

In perhaps the most compelling finding, a study published by the Journal of the American Medical Association in 2018 reported that children with progeria who took lonafarnib capsules twice a day had a dramatically lower mortality rate than those who didnt.

After slightly more than two years, one in 27 children who took lonafarnib, or 3.7 percent, had died compared with nine in 27 who didnt get it, or 33 percent, according to the article by a team of researchers from the Progeria Research Foundation, Brown University, and Childrens Hospital. Lonafarnib appeared to slow the progression of cardiovascular disease, although it had little or no effect on other symptoms, including stiff joints, stunted growth, wrinkled skin, and loss of body fat and hair.

The data looks fantastic, said Dr. Leslie Gordon, lead author of the JAMA study and medical director and cofounder of the Progeria Research Foundation, the Peabody-based nonprofit that funded the trials. Youve got a fatal childhood disease with no treatment, and youve shown a survival benefit.

For Gordon, a professor of pediatric medicine at Browns medical school who practices at Boston Childrens Hospital and Hasbro Childrens Hospital in Providence, the quest to treat progeria is profoundly personal.

Her son, Sam Berns, a Foxborough High School junior, died of progeria in 2014 at age 17. Like Waldron, he began taking lonafarnib in 2007 in the clinical trials. An avid sports fan who played the snare drum in the Foxborough High School marching band, he was the subject of the 2013 HBO documentary Life According to Sam.

Gordon had never heard of progeria when Sam, her only child, was diagnosed with it at 22 months. She has since become an authority. In 2003, she was on the research team led by Dr. Francis S. Collins, director of the National Institutes of Health, that discovered the defective gene that causes the disease. She cofounded the progeria foundation with her husband and sister.

The genetic mutation that causes progeria results in an overabundance of the protein progerin. A buildup of progerin occurs within a cell in normal aging, but the rate of accumulation is dramatically accelerated in children with the disease. Progeria has no effect on a childs intellect, as anyone who meets Waldron who took an Advanced Placement class in European history in high school and rhapsodizes about Michelangelo can tell in an instant.

Lonafarnib was originally developed by the pharmaceutical giant Merck as a potential treatment for cancer. But researchers found that it can reverse an abnormality in cells of laboratory mice with progeria. Merck has licensed it to Eiger BioPharmaceuticals, a small drug maker in Palo Alto, Calif. David Cory, chief executive of Eiger, says the company has hired a chief commercial officer and a vice president of medical affair in anticipation of FDA approval.

Researchers are working on other potential treatments, including one that targets the genetic root of the disease. David Liu, a chemistry professor affiliated with the Broad Institute, Harvard University, and the Howard Hughes Medical Institute, recently announced that he and a team of scientists had used a new form of genome editing to correct the DNA mutation that caused the disorder in mice, extending their lives.

Waldron, who serves as an ambassador for the progeria foundation, said she was diagnosed with the disease when she was about 2. Her mother, a housekeeper at an assisted living facility, and her father, a solar energy contractor, were worried because she wasnt growing or gaining weight, and her hair was falling out.

Waldron realized she had progeria as an adolescent when she went on the foundations website and saw pictures of kids who looked like her, she said.

Obviously, I knew that I was different before that, she said. But it wasnt an awareness I-have-progeria thing until at a certain point.

The disease has hardly stopped her. She ran for the cross-country and track teams at the public Frontier Regional High School in Deerfield. She played violin in the middle school orchestra and cello in the high school orchestra.

She has met about a dozen other children with progeria from around the country at family weekends at the nonprofit Hole in the Wall Gang Camp in Connecticut for seriously ill children and their families.

When she started considering colleges, Waldron said, she had no interest in going to school in Boston. But she fell in love with the city on a visit to Emerson.

You can walk down the street or hop on a train and go anywhere, she said, citing the North End as one of her favorites places.

I have great friends," she added. "I always have.

Emerson has made several accommodations for her. For example, the college provides a stool for her to rest her feet on when she sits at a desk in her four classes. The handle on her wardrobe in her dorm room was lowered so she could reach it more easily.

Waldron says she generally feels fine despite problems with her joints. She has dislocated her right shoulder four times doing ordinary tasks, such as reaching for a light switch.

None of this has dimmed her spirit for adventure.

Meghan has a very strong personality. Shes driven, her father, Bill Waldron, said in a video posted last year on the progeria foundations Facebook page. I dont think she pays attention to the fact that she has progeria.

Indeed, after graduating from high school in June, she traveled in Europe alone for a month. The initial attraction was seeing Anne-Marie, a singer and occasional Ed Sheeran collaborator, perform in London. But Waldron decided she also wanted to experience Renaissance art. She visited Milan, Florence, Rome, Paris, and Dublin, staying in youth hostels along the way.

Waldrons parents were nervous, she said. She was, too, but only briefly.

There was a point of about five minutes when my parents said goodbye and I was getting on the plane where I started freaking out, she said, laughing. But then I was like, Oh, well. And then I was fine.

Jonathan Saltzman can be reached at jonathan.saltzman@globe.com

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Emerson student with one of the worlds rarest diseases is heartened that the first drug to treat it could be approved soon - The Boston Globe

Scientists around the world are scrambling to develop a vaccine to stop the spread of the new coronavirus, but the best candidate might be an experimental one stored in a Houston freezer.

The vaccine, developed by researchers at Baylor College of Medicine and University of Texas Medical Branch at Galveston researchers, effectively protected mice against SARS, or severe acute respiratory syndrome, the virus from the same family that spread in the early 2000s. The vaccine never progressed to human testing because manufacturing of it wasnt completed until 2016, long after SARS had burned out.

It generated zero interest from pharmaceutical companies, said Peter Hotez, a Baylor vaccine researcher and infectious disease specialist. Because the virus was no longer circulating, their response was essentially, thanks, but no thanks.

Hotez thinks the vaccine-in-storage can provide cross-protection against the new coronavirus, now officially named COVID-19, whose spread through China and, increasingly, to other countries has the world on edge. The virus, first detected in Wuhan, China, has now infected more than 75,000 people and killed more than 2,200, more than the 774 deaths from SARS. Although the bulk of the cases and deaths have occurred in China, COVID-19 now has been confirmed in 28 countries, the U.S. among them.

On HoustonChronicle.com: Coronavirus fears weigh on Houston economy as oil prices fall, businesses lose customers

The 34 cases in the United States 21 repatriated individuals and 13 travelers who fell ill after returning include three in Texas, an American citizen who was part of a group evacuated from China on a State Department-chartered flight, and two citizens on the Diamond Princess cruise ship. All three were taken to Lackland Air Force Base in San Antonio.

The Baylor-UTMB vaccine looks promising for COVID-19 because the virus so resembles SARS Hotez calls it SARS-2 which circulated between November 2002 and July 2003, mostly in mainland China and Hong Kong but also in Toronto, whose economy was so badly wrought by the outbreak that it needed a boost from a benefit concert featuring the Rolling Stones, Justin Timberlake and others to help shake the effects.

COVID-19 shares 82 percent of its genes with SARS and infects people through the same cell receptor, one of the spike-like proteins that stud the surface of coronaviruses and gives the family their name. The viruses originally jump from animals to people.

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The two viruses, which have mostly resulted in deaths in the elderly and people with serious underlying conditions, both can cause a severe form of viral pneumonia characterized by fever, cough and breathing difficulties. The early thinking is that COVID-19 is less lethal than SARS but more contagious.

There is no licensed treatment or vaccine for either, just supportive care focused on the symptoms.

The hope that the Baylor-UTMB vaccine should provide at least some, if not full, protection has had Hotez working the telephone the last few weeks, pleading with pharmaceutical companies and federal scientific agencies to pony up the funding needed to move the vaccine into clinical testing. The vaccine is still a candidate for such testing because the team has tested its continuing usefulness every six months, when it removes a sample from the freezer.

It may require some tweaking, but its stable, said Dr. James LeDuc, director of the Galveston National Laboratory on the UTMB Galveston campus. Every virus is different, features some adaptations.

The laboratory, a high-security biocontainment facility for the study of exotic disease, recently received the live COVID-19, which it will use to test the vaccine in mice, to see whether the SARS vaccine protects against it too. The labs researchers created mice engineered to replicate the human disease.

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Funding for clinical trials remains the big hurdle. Even with the new coronavirus circulating, Hotez has found few nibbles from pharmaceutical companies beyond the request to keep them informed and the suggestion their interest would pick up if the new coronavirus becomes a seasonal infection, like the flu.

Instead, Hotez is pinning his hopes for clinical trial funding on two grant proposals one to the British government; and another to the Coalition for Epidemic Preparedness Innovations, an Oslo-based coalition of charities (the Bill and Melinda Gates Foundation is a sponsor) and governments that aims to derail epidemics by speeding up the development of vaccines.

The Baylor-UTMB venture is just one of the many ongoing efforts to halt the coronavirus epidemic. About 300 scientists dialed in remotely to a World Health Organization meeting last week to fast-track tests, drugs and vaccines to help slow the outbreak. UT-Austin scientists published a paper in Science on their creation of the first 3D atomic-scale map of the spike protein the part of the virus that attaches to and infects human cells that should provide a road map for better vaccine development.

At least eight initiatives to develop new vaccines have been announced, most of which use new technology, such as a type sometimes called genetic immunization, that is considered highly promising but has not yet led to licensure. One Houston firm, Greffex, said it has used genetic engineering to create a COVID-19 vaccine it will now take to animal testing.

Hotez said he thinks the Baylor-UTMB vaccine has an advantage because its already been successfully tested in animals and because its based on classic vaccine technology, the same technology used, for instance, in approved vaccines for Hepatitis B and the human papillomavirus. He said the less-than-perfect match should provide protection in the same way flu vaccines provide protection even though theyre not perfect matches.

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In addition to repurposing the SARS vaccine, the Baylor-UTMB team is working to develop a new vaccine targeting COVID-19. But Hotez acknowledged that work will take longer than the SARS vaccine. He said hes surprised Chinese officials havent reached out to him about testing the vaccine in China.

Baylors work is conducted through its Texas Childrens Hospital Center for Vaccine Development, whose mission involves fighting public health threats that affect people who live in poverty such as neglected tropical diseases and coronaviruses. It has made vaccines for neglected tropical diseases Chagas disease, schistosomiasis and hookworm, and the coronavirus MERS, or Middle East respiratory syndrome, the camel flu that originated in Saudi Arabia in 2012 and later was confirmed in South Korea. Unlike SARS, MERS does not resemble COVID-19.

On HoustonChronicle.com: Why Houston is uniquely situated to be better prepared for the coronavirus threat

But the question is, can any vaccine make it through clinical testing in time to make a difference in the fight against an emerging epidemic or pandemic?

LeDuc noted that there are no shortcuts to the testing required to prove vaccines are safe and effective in people, a process he acknowledges could take a year, during which time the disease may burn out.

Hotez said the only thing that might expedite testing is if the spread of the disease becomes dire, a sobering thought that some public health officials think is looking more and more likely as COVID-19 is diagnosed in more countries.

It is why Hotez laments the missed opportunities to develop and stockpile vaccines for SARS, MERS and even Zika, the mosquito-borne infection that emerged in 2014-2017 but then burned out.

Its like little kids soccer games where everyone just follows the ball, said Hotez. They all run to the ball when its one spot, then to the next spot where it goes and then the one after that. No one stays at the goal to play defense.

todd.ackerman@chron.com

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Is the vaccine to thwart the new coronavirus stored in a Houston freezer? - Houston Chronicle

By Jonny Lupsha, News Writer

According to NPR, trained alert dogs for diabetic owners sell for up to tens of thousands of dollars, and business is booming. The diabetic alert dog industry is unstandardized and largely unregulated, and the science on a dogs ability to reliably sniff out blood sugar changes is, at best, inconclusive, the article said. Several [dog training companies] have faced lawsuits or complaints recently from consumers who bought diabetic alert dogs that they say dont work. In Texas, a group of more than a dozen dog buyers sued a trainer for fraud and won a judgment for $800,000.

The article also cited a 2017 study that found that only three of 14 diabetic alert dogs tested better than random chance at detecting a change in a humans blood sugar levels. While diabetes affects more than 30 million Americans, many diabetics would benefit from learning more about the basic fundamentals of the disease, its treatment, and the serious consequences of not taking care of their health.

There are three types of diabetes mellitus: insulin-dependent type 1 diabetes can develop at any age, though it used to be considered juvenile diabetes presenting in children; non-insulin-dependent, or adult-onset, type 2 diabetes is the most common and usually presents in adults; and gestational diabetes occurs during pregnancy, and may or may not go away after childbirth. Professor Roberta H. Anding, Director of Sports Nutrition and a clinical dietitian at Baylor College of Medicine and Texas Childrens Hospital, said that 80 percent to 90 percent of diabetics suffer from type 2 diabetes. But what is type 2 diabetes?

In this case, the body makes insulin, but its not being effectively used by the body, Professor Anding said. This is diagnosed by having a fasting blood sugar of greater than 126 milliliters per deciliter, or an oral glucose tolerance test of greater than 200.

Studies of identical twins overwhelmingly show that type 2 diabetes is genetic. If one twin gets diabetes, the chance that the other twin gets diabetes is three out of four, Professor Anding said. We have now identified multiple different genes, or loci on genes, that will suggest that yes, there are some higher risk individuals. The Human Genome Project has identified over 17 genetic loci strongly associated with type 2 diabetes.

Despite genetics playing a major part in contracting type 2 diabetes, our environment also comes into play. One prevention study called the Diabetes Prevention Program did research into how effective diabetes prevention could be when properly applied, and the results were stunning.

They assigned people with blood sugars that were just below the level of pre-diabetes to one of three groups: placebo, standard care; metformin, which is a medication that is used to control diabetes; or lifestyle intervention, Professor Anding said. The lifestyle intervention included two and a half hours per week of physical activity and a healthier, low-fat, low-calorie diet.

Lifestyle intervention reduced the incidence of diabetes by 58 percent, where traditional pharmacology that is used for the same kind of circumstance reduced it by 31 percent.

Cutting calories is a good start, Professor Anding said, but controlling which fats you eat helps as well. She cited a high intake of omega-3 and omega-6 polyunsaturated fats as leading to lower risks of diabetes, as do diets with a lot of whole grains and cereal fiber.

Following diabetes prevention steps through healthy living has plenty of scientific backing, unlike the trend in using diabetic alert dogs to detect low sugars in diabetics.

Professor Roberta H. Anding contributed to this article. Professor Anding is a registered dietitian and Director of Sports Nutrition and a clinical dietitian at Baylor College of Medicine and Texas Childrens Hospital. She received her bachelors degree in Dietetics and her masters degree in Nutrition from Louisiana State University.

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Lawsuits Mount as Alert Dogs for Diabetics Fail to Live Up to Expectations - The Great Courses Daily News

Indiana University trustees have approved the appointment of 15 faculty members as distinguished professors, IU's highest academic title for its most outstanding and renowned scholars and researchers. This is the largest number of new distinguished professors to be appointed in the university's history.

The record number is being recognized in honor of IU's Bicentennial Year and to highlight the remarkable research, scholarship and creative accomplishments of IU's past and present faculty as well as their public impact over the past 200 years.

"Faculty honored with the title of distinguished professor -- a title reserved for only the most highly acclaimed and accomplished IU faculty -- truly are among the finest scholars and researchers in the world," IU President Michael A. McRobbie said. "This prestigious appointment celebrates those who have earned national and international recognition and who have strengthened and transformed their fields of study through their research, scholarship, innovation and creative contributions to the world. They were chosen from the largest and best pool of candidates in IU's history.

"Our students and our campuses benefit enormously from the superb academic achievements, engagement and academic integrity of the faculty who have earned appointment as IU distinguished professor and who have been central to the reputation for excellence that IU enjoys as it begins its third century."

Distinguished Professor Symposia in Bloomington and Indianapolis to honor the 15 new distinguished professors will be announced in the coming weeks. Below are brief biographies of the appointees:

Lisa Blomgren Amsler is the Keller-Runden Professor of Public Service in the O'Neill School of Public and Environmental Affairs. Her research examines dispute systems design and the legal infrastructure for collaboration, dispute resolution and public participation in governance. She has co-edited three books and authored more than 120 articles, monographs and book chapters. She joined the IU faculty in 1989 after practicing labor and employment law.

Lynda Bonewald is a professor of anatomy and cell biology and of orthopedic surgery in the School of Medicine. She is the founding director of the Indiana Center for Musculoskeletal Health, which has more than 100 members from 36 departments on four campuses. She has been continually funded by National Institutes of Health for more than 30 years and is responsible for tools used by researchers globally to determine osteocyte biology and function.

Ann Elsner is a professor in the School of Optometry. Her research led to the discovery that infrared light can image the retina, and she has studied a range of retinal pathologies with a focus on diabetic retinopathy, age-related macular degeneration and normal aging of the eye.

Loren Field is a professor of medicine, of physiology and biophysics, and of pediatrics in the School of Medicine. Field and his IU colleagues were the first to show that relatively simple genetic modifications can induce mammalian heart cells to regenerate. His current research is focused on identifying genes and molecules that promote heart muscle regeneration by coaxing healthy cells to proliferate. The success of this research would offer the potential for seriously ill patients whose tissue has been damaged by heart attack to "re-grow" their own hearts.

Charles Geyh is the John F. Kimberling Chair and professor in the Maurer School of Law. His scholarship focuses on the operation of state and federal courts in relation to the political branches of government and the legal profession. His work on judicial independence, accountability, administration and ethics has appeared in more than 80 books, articles, book chapters, reports and other publications.

David Giedroc is a Lilly Chemistry Alumni Professor and director of the Graduate Training Program in Quantitative and Chemical Biology in the College of Arts and Sciences' Department of Biology. His research interests include the biophysical chemistry of infectious disease. Giedroc is a fellow of the American Association for the Advancement of Science and the Royal Society of Chemistry.

Jeffrey Gould is a Rudy Professor of History in the College of Arts and Sciences' Department of History. He is a groundbreaking historian, writer and filmmaker whose work has transformed scholarship on social movements in Nicaragua and El Salvador. He helped build the Center for Latin American and Caribbean Studies into one of the leading research centers of its kind. He's authored several books and articles, and several have been published in Spanish.

Roger Innes is a Class of 1954 Professor of Biology in the College of Arts and Sciences' Department of Biology. His lab work primarily focuses on understanding the genetic and biochemical basis of disease resistance in plants. He's investigating how plants are able to recognize pathogens and actively respond. The research is funded by two grants from the NIH and has recently been featured in the European journal International Innovation.

Filippo Menczer is a professor of informatics and computer science in the Luddy School of Informatics, Computing and Engineering. His research, supported by the National Science Foundation, Department of Defense, McDonnell Foundation and Democracy Fund, focuses on web and data science, social network analysis, social computation, web mining and modeling of complex information networks. His work on the spread of information and misinformation on social media has been covered by many national and international news outlets.

Mark Messier is a Rudy Professor of Physics in the College of Arts and Sciences' Department of Physics. His research focuses on the experimental study of neutrinos, which are among the most abundant particles in the universe. He is a member of the Deep Underground Neutrino Experiment, which is made up of more than 1,000 collaborators from 190 institutions in over 30 countries. DUNE advances work in each of the key areas of physics research.

Osamu James Nakagawa is the Ruth N. Halls Professor and professor of photography and studio art in the Eskenazi School of Art, Architecture + Design. His photography has been published, reviewed and exhibited internationally. He has permanent collections on display at several museums, including the Metropolitan Museum of Art in New York, the International Museum of Photography at the George Eastman House, the Tokyo Metropolitan Museum of Photography and the Museum of Contemporary Photography in Chicago.

G. David Roodman is the Kenneth Wiseman Professor of Medicine in the School of Medicine. His research focuses on osteoclasts and osteoblast activity in both normal and pathological states, including Paget's disease and multiple myeloma. Roodman's lab pioneered the development of long-term marrow culture techniques to study osteoclast differentiation and activity.

Chandan Sen is the J. Stanley Battersby Chair and professor of surgery at the School of Medicine. He and a team of more than 30 scientists study how to tap into the power of regenerative medicine and engineering to heal burns, develop new therapies for diabetic complications, treat injured soldiers and even regrow damaged and diseased tissue. Sen has published more than 300 articles and is cited more than 900 times a year in literature.

Marietta Simpson is a Rudy Professor of Music in the Jacobs School of Music. She is one of the most sought-after mezzo-sopranos and is greatly admired for the rich beauty of her deeply expressive voice. Simpson has performed with many of the world's great conductors and has performed with all the major orchestras in the U.S. and most of those in Europe.

David Williams is the Harry G. Day Chair and Professor of Chemistry in the College of Arts and Sciences' Department of Chemistry. He is an internationally recognized scientist in the field of organic chemistry. His research is focused on the synthesis of biologically active natural products and the development of new reaction methods. He serves on a number of advisory boards, including for the NI H. Williams is a fellow of the American Association for the Advancement of Science.

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Record number of faculty appointed as distinguished professors in honor of IU's Bicentennial Year - IU Newsroom