Category Archives: Gene Medicine

After a super-fast DNA test developed by scientists at Imperial College, Helen Rumbelow trialled their new gadget it lets people choose food to suit their genes

The Times,November 12 2019, 12:01am

Will it be my grandmothers cancer, or the family weakness for Alzheimers that will get me in the end? Our genes contain instructions for our death as well as our life, but they have always played dumb. Until now.

Now I can wear a wristband with my genetic vulnerability for fatal diseases coded into it. Which is by turns futuristic and kind of terrifying. For me, its like shaking hands with my heart attack scheduled for 2050: Nice to get to know you at last!

Weird, but I soon get used to it when I take the wristband shopping. Its the opposite experience to taking a toddler, endlessly pestering for sweeties, to the supermarket. When I aim the tiny scanner of the DNA Nudge wristband

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DNA Nudge app review: can this wristband tell you the best diet for your genes? - The Times

New York, Nov. 12, 2019 (GLOBE NEWSWIRE) -- Reportlinker.com announces the release of the report "Europe Next Generation Sequencing Market to 2025 - Regional Analysis and Forecasts by Product; Service; Application; & End User, and Country" - https://www.reportlinker.com/p05794719/?utm_source=GNW However, nonexistence of skilled professionals and high risks associated with genetic data.

On the other hand, an extensive use of genomics for medical applications is likely to have a positive impact on the growth of the Europe next generation sequencing market in the coming years.The genomics is comprised of various technologies such next generation sequencing (NGS), genome editing, gene synthesis and more.These technologies have been utilized for achieving various discoveries for the betterment of the health conditions across the living organisms.

The next generation sequencing is widely used in the field of the medical to understand the genetic composition of the patients.The use of NGS has been utilized for the alteration of plants and animals for the desired physical and genetic changes.

The technology is used to produce biomarkers.The biomarkers are widely used in clinical research and clinical practice.

NGS is among the important developments in genomic technologies, the technology is used for the discovery of oncogenic biomarker and diagnostics. NGS enables in discovery of biomarker and identifying the genetic diseases. In addition, the NGS is used for the developing precision medicine for individuals genomic information to offer targeted treatment to the individual. NGS have capability of sequencing large sections of a persons genome in very short period of time and can also aid in formulation of precision medicine. Next generation sequencing technology is among the major driver of precision medicine and has improved its accuracy, speed, and cost. Developments in whole genome sequencing has enabled the identification of genes required in the large number of diseases, and biomarkers that indicate disease severity to treatment are gradually being characterized. Therefore, the use of the NGS for the discovery of biomarker have benefited for the early diagnosis and differentiating in disease types. Likewise, precision medicine enables in treatment of the diseases NGS plays significant role for both the application by creating an array of opportunities in future.In 2017, the consumables segment held a largest market share of 64.0% of the next generation sequencing market, by product. The segment is growing due to the consumables offered by various companies are widely accepted by the consumers and it provides accuracy and precision in the preparation of the NGS. Furthermore, the similar segment is anticipated to witness the fastest growth rate during the forecast period, 2018 to 2025.In 2017, the resequencing segment held a largest market share of 66.0% of the next generation sequencing market, by technology. This segment is also expected to dominate the market in 2025 as the rising funding by various government bodies and usage of NGS in the resequencing and targeted sequencing. Furthermore, the genome sequencing segment is anticipated to witness the fastest growth rate during the forecast period, 2018 to 2025.Diagnostics segment is anticipated to grow at a CAGR of 22.0% during the forecast period owing to the growth of the technological advancements such as sequencing machines in the developed and developing regions. Moreover, the similar segment held the largest market share of 34.0% for the application segment in the next generation sequencing market and is likely to dominate the market in coming forecast period.In 2017, the academic & research institutes segment held a largest market share of 45.2% of the next generation sequencing market, by end user. This segment is also expected to dominate the market in 2025. Moreover, the similar segment is anticipated to witness the fastest growth rate of 21.9% during the forecast period, 2017 to 2025. This higher growth rate of the segment owing to the providing the references for further researches are likely to propel the growth of the research centers segment in the coming future.Some of the major primary and secondary sources for next generation sequencing included in the report are, Non-Invasive Prenatal Testing (NIPT), Food and Drug Administration (FDA), Developing an European - American NGS Network (DEANN), Foreign Direct Investment (FDI) and among others.Read the full report: https://www.reportlinker.com/p05794719/?utm_source=GNW

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The Europe next generation sequencing market is expected to reach US$ 7,685.4 Mn in 2025 from US$ 1,633.4 Mn in 2017 - GlobeNewswire

A woman with a genetic mutation thought to inevitably cause Alzheimers disease in peoples 50s escaped that fate, living into her 70s before she developed mild dementia and researchers think they know why.

In addition to the Alzheimers mutation, they reported on Monday, she has a rare form of a gene best known for producing molecules that help carry cholesterol through the bloodstream. Somehow, the second gene prevented the devastating consequences of the first, a finding that might one day open up new approaches to treating or preventing Alzheimers.

This is an excellent and thought-provoking study, said Dr. Michael Greicius of Stanford University School of Medicine, an expert in Alzheimers genetics who was not involved in the research. He emphasized, however, that because the patients combination of genes is exceedingly uncommon and possibly unique, the study published in Nature Medicine is hypothesis-generating but far from definitive.

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He and five other Alzheimers researchers cautioned that this is a single case report, not a large study, and the rarity of the womans genetics may well make it impossible to prove that the supposedly protective gene really did keep her from developing early-onset Alzheimers.

The woman (unnamed, to protect her privacy) belongs to a large extended Colombian family. Descended from a Basque couple who migrated to Colombia 300 years ago, roughly 1,200 of its 6,000 living members carry a mutation in a gene called PSEN1, discovered in 1987. The mutation (known as E280A) causes the brain to overproduce the protein fragment beta-amyloid, which forms sticky plaques between neurons and is a diagnostic hallmark (though not necessarily the cause) of Alzheimers.

Because the Colombian family is the largest single group with mutations that cause early-onset Alzheimers half of those with the gene develop mild cognitive impairment by age 44 and dementia by 49 they have been a key part of studies of the disease.

Through one such study, the woman came to the attention of neuropsychologist Yakeel Quiroz of Massachusetts General Hospital. The womans memory and thinking had been basically fine well into her 50s and 60s, her family said. Although brain imaging revealed extremely high levels of amyloid as is expected with PSEN1 only in her 70s did she develop mild cognitive impairment, three decades after relatives who also have the amyloid-superproducing PSEN1 mutation.

In fact, she has more amyloid plaques than relatives whose cognition began crashing in their 40s. She also has relatively low brain levels of tau, also a protein fragment but one that accumulates inside (and kills) neurons. She also has little neurodegeneration.

To figure out how the woman avoided early-onset Alzheimers, Quiroz and her colleagues sequenced her genome. One of her genes, APOE3, was extremely unusual: Both copies (one from her mother and one from her father) carried the rare Christchurch mutation, named for the New Zealand city where it was discovered in 1987. Despite that history, it is found almost exclusively in Latinos; Stanfords Grecius estimates that only about 1 in 100 million people have two copies.

Like every other human, the woman has thousands of other unusual genetic variants. But Quiroz zeroed in on the Christchurch mutation based on an algorithm that ranks variants for their role in particular diseases. Different forms of APOE have long been associated with Alzheimers: APOE4 raises the risk of developing the disease, APOE2 lowers the risk, and APOE3 is neutral (there is no APOE1). We felt confident the Christchurch variant of APOE3 was of interest, Quiroz said.

To test that hunch, she and her team studied how the Christchurch form of the APOE3 molecule interacts with other molecules that play a role in Alzheimers. In lab dishes, the Christchurch form didnt bind as well as ordinary APOE3 to sugar molecules (called heparan sulphate proteoglycans). Those sugars, previous studies showed, are critical enablers of tau, the neuron-killing Alzheimers-related molecule: Bound to APOE, the sugars allow tau to spread from one neuron to another, jumping around the brain in a dance as lethal as glowing embers in a wildfire.

The Christchurch mutation, Quiroz and her team concluded, dampens tau formation and neuronal death even when the brain is awash in amyloid.

If theyre right, it might be possible to prevent or treat Alzheimers through a route very different from removing brain amyloid, as most experimental drugs have (in virtually every case, without success). Instead, antibodies or other molecules that keep APOE from binding to the tau-spreading sugars could reproduce [the] potentially protective effect of the Christchurch mutation, including in people with ordinary genes, Quiroz and her colleagues wrote. That could have a profound impact on the treatment and prevention of Alzheimers disease.

Other scientists werent so sure. The main doubt: This patient, like everyone, has tens of thousands of other rare variants, any one of which might be why she did not develop early-onset Alzheimers as her PSEN1 mutation should have caused.

There are thousands of variants in our genome, said Nikolaos Robakis of the Icahn School of Medicine at Mount Sinai, who discovered one of the first mutations for early-onset Alzheimers. So, from the get-go, its unlikely that this is the one that let the woman escape what would have otherwise been her genetic fate.

One reason for doubt: Having one copy of the Christchurch variant (as seven of 117 members of the patients extended family do) rather than two (as she does) has apparently no benefit, Stanfords Greicius pointed out. All of the seven developed early-onset Alzheimers.

It would have been most convincing to show that while two copies of the Christchurch variant move the age of onset from early 40s to early 70s, one copy had a middling effect, moving the age to the early 50s, he said. But there was no dose effect. That, agreed Robakis, is evidence against the claim that this rare form of APOE3 acts as an anti-Alzheimers talisman.

But even skeptics agreed on one thing: The role of APOE in Alzheimers is vastly understudied. Remedying that could be the Colombian womans most valuable contribution to Alzheimers research.

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She was destined to get early Alzheimer's, but didn't. Did a rare mutation protect her - STAT

Could one woman's rare genetic mutation one day have a global impact on dementia risk?

It's possible, say investigators who report on a potentially groundbreaking case of a woman whose genetic mutation staved off dementia for decades, even though her brain hadalreadybeen damaged by Alzheimer's disease.

While most Alzheimer's cases are not driven by genetic predisposition, one woman in Colombia is among about 1,200 in her country who do face a genetically higher risk for early-onset Alzheimer's.

Why? They all carry the E280A mutation of a gene called Presenilin 1 (PSEN1), which is known to increase the chances for Alzheimer's at a far younger age than usual.

"We identified an individual that was predisposed to develop Alzheimer's in her 40s," noted study author Dr. Joseph Arboleda-Velasquez. He's an assistant professor of ophthalmology with the Schepens Eye Research Institute of Mass Eye and Ear at Harvard Medical School, in Boston.

But, strangely, the woman "remained unimpaired until her 70s," Arboleda-Velasquez added.

The twist: the woman had, in fact, developed clear telltale signs of Alzheimer's in her brain. She just hadn't developed dementia.

For example, while she had fewer neural "tangles" in her brain than is typical for Alzheimer's patients, by the time she hit her 40s she did have the same unusually high level of brain amyloid-beta deposits as her E280A peers. Such deposits are a key signature of Alzheimer's.

So why didn't she develop middle-aged dementia like her peers?

To unravel the mystery, Arboleda-Velasquez and his colleagues ran an in-depth genetic analysis on the woman. And what they found is that she had not just one mutation, but two.

In addition to the E280A mutation, she also carried the so-called "Christchurch" mutation in the APOE3 gene.

But there's more. Not only did she carry the Christchurch mutation, but she hadtwoof them. Some of her E280A peers (about 6%) also carried a single copy of Christchurch. But she was the only one who carried two, the investigators found.

"It is ultra-rare, with an approximate prevalence of less than one in every 200,000 individuals," Arboleda-Velasquez said.

And having one such rare mutation did not appear to be enough. No protection against dementia was linked to only one Christchurch mutation. But as this woman's case suggests, having two such mutations did seem to throw up a shield against Alzheimer's, preserving her ability to remember things and think clearly for a few decades, long after her E280A peers had started experiencing cognitive decline.

"This is the first time a specific patient who carries the [double] mutation has been linked to such a protective benefit," Arboleda-Velasquez noted.

How does it work? It seems that "the mutation puts a block on the cascade of events linking amyloid accumulation to neural [brain cell] death," he explained.

The team did acknowledge that more research will be needed to definitively confirm the Christchurch mutation's impact, and to further explore how this mutation/dementia delay connection truly works.

But, in theory, the incredibly rare experience of this one woman in Colombia could ultimately have profound ramifications for Alzheimer's patients around the world, if "new drugs that mimic the effect of [the] mutation" could be developed, said Arboleda-Velasquez. Rather than stopping Alzheimer's from developing, such drugs would prevent Alzheimer's from causing dementia.

The study was published Nov. 4 in the journalNature Medicine, and was partly funded by the U.S. National Institutes of Health and the Alzheimer's Association.

Heather Snyder, vice president of medical and scientific relations at the Alzheimer's Association, characterized the findings as "an important discovery."

The insights gleaned from a look at this particular patient's experience are "full of possibilities for increasing our understanding of Alzheimer's disease and all dementia, and advancing potential avenues for treatment," Snyder suggested.

"Understanding what is happening in the brains of people when there appears to be a delay or stopping of the disease progression because of this gene form or otherwise gives rise to many possibilities for investigating new treatment and risk-reduction opportunities," she added.

At the same time, Snyder cautioned that "more research is needed to understand more thoroughly how genetics impacts Alzheimer's/dementia risk, and to expand and confirm these findings in a larger number of people."

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Alzheimer's disease: Rare genetic mutation might hold clues to preventing or treating dementia - CBS News

BARCELONA Researchers have obtained the first signs of clinical benefit in an early-stage gene therapy trial for Tay-Sachs disease, according to a presentation at the European Society of Gene & Cell Therapy (ESGCT) annual conference last week.

Terence R. Flotte, MD, executive deputy chancellor, provost, and dean of the University of Massachusetts (UMass) School of Medicine, presented the results in Barcelona. Flotte is also the editor-in-chief of Human Gene Therapy (a sister journal of GEN).

Buckle your seatbelts, commented Fyodor Urnov, PhD, a gene therapy expert at the Innovative Genomics Institute, UC Berkeley, on Twitter. A gene therapy early-stage success for Tay-Sachs!!!

Urnov said: Flotte has long been an inspiration and a leader for the field, and this is just MAGNIFICENT. Tay-Sachs is devastatingbut perhaps for not much longer?

Tay-Sachs is an incurable recessively inherited pediatric genetic disease, a member of a group of lysosomal storage diseases, which is particularly common in individuals of Ashkenazi Jewish descent. Patients have a median life expectancy of approximately three to four years.

Flotte presented preliminary data on two infants in the Phase I trial, which is designed to ascertain safety rather than efficacy. But Flotte said there are early signs that the therapy, which in 2018 was licensed to Axovant Gene Therapies, has the potential to modify the rate of disease progression.

Flotte said that the adeno-associated virus (AAV) gene therapyAXO-AAV-GM2had been successfully administered in both children and has been well tolerated so far, with no serious adverse events or clinical abnormalities related to the therapy. The route of therapy is significant: it involves bilateral intrathalamic and intrathecal injection of the virus in an effort to deliver widespread distribution of the replacement enzymehexosaminidase A (HexA) throughout the brain and central nervous system.

This innovative delivery could overcome one of the primary challenges for developing treatments for Tay-Sachs, Sandhoff, and many other severe pediatric genetic disorders, providing much needed hope for these families, Flotte said.

Flotte said there had been a very modest increase in HexA bioactivity in both patients (less than two percent). More encouragingly, the second patient treated showed signs of increased myelination and a plateau in disease development.

The data presented by Flotte marked the first reported evidence for potential disease modification in Tay-Sachs disease, and suggest an opportunity for gene replacement therapy to improve outcomes for children with this devastating condition, said Gavin Corcoran, MD, Axovants chief research and development officer, in a statement.

Myelination is an important component of healthy brain development in infants and is often abnormal in children with Tay-Sachs disease. We were encouraged to see MRI evidence of preserved brain architecture and improved myelination in the early symptomatic child treated at 10 months of age, Corcoran said.

Flotte presented the preliminary trial findings on behalf of his UMass colleagues including Miguel Sena-Esteves, PhD, associate professor of neurology; Heather Gray-Edwards, PhD, DVM, assistant professor of radiology; and Douglas Martin, PhD, professor of anatomy, physiology, and pharmacology in the College of Veterinary Medicine at Auburn University.

A Phase II trial is being planned.

Flottes report was one of several highlights delivered at the ESGCT annual congress, which attracted a record attendance of more than 2,000 scientists last week. Flotte was one of many leading plenary speakers, including Carl June, MD (University of Pennsylvania) and Michel Sadelain, MD (Memorial Sloan Kettering) on CAR-T therapy; David Williams, MD (Boston Childrens Hospital), Matthew Porteus, MD (Stanford University), and Donald Kohn, MD (UCLA) on gene therapy for sickle-cell disease and beta-thalassemia; Fulvio Mulvilio, MD (Audentes Therapeutics) on X-linked myotubular myopathy; and James Wilson, MD (University of Pennsylvania) on safety of gene-editing nucleases.

The conference also marked the third public presentation of prime editing, the novel genome editing technology developed by David Liu, PhD (Broad Institute/HHMI) and colleagues, which was published last week in Nature. The method offers the possibility of engineering any base substitution by using an RNA intermediate.

Despite recent protests in Barcelona, the conference proceeded without incident. The 2020 ESGCT congress will be held in Edinburgh, Scotland, on October 20-23, in collaboration with the British Society for Gene and Cell Therapy.

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Promising Results Reported in Tay-Sachs Gene Therapy Trial - Genetic Engineering & Biotechnology News

Ilana Yurkiewicz, a physician and medical journalist at Stanford University, explains why CAR-T is only used in patients with certain cancers and tries to answer why they havent yet been shown to work against solid tumors in an UnDark article. Public health news is on breast cancer tests, fecal matter transplants, Zantac recalls, white male life expectancy, skin rashes, growing up with HIV, a retracted HIV study, live-streaming a mammogram, and how to get a good night's sleep, as well.

The Washington Post:Science Author Digs Into The Story About A Revolutionary Cancer Treatment Used In ImmunotherapyIn 2017, CAR-T therapy made waves as the first gene therapy to be approved by the Food and Drug Administration. In a fascinating article for Undark, Ilana Yurkiewicz, a physician at Stanford University, plunges into the fraught history and future of a cancer treatment thats as radical as it is risky. Unlike chemotherapy or radiation, which attack cancer directly, CAR-T engineers patients immune cells so they can do it themselves. (Blakemore, 11/2)

Bloomberg:Blood Test To Detect Breast Cancer Could Be Five Years AwayA blood test that may be able to detect breast cancer up to five years before symptoms develop could be available by 2025 if development is fully funded, U.K. researchers said. Doctors at the Centre of Excellence for Autoimmunity in Cancer at the University of Nottingham compared blood samples from 90 patients being treated for breast cancer with the same number from a control group without the disease to measure the bodys immune response to substances produced by tumor cells. Theyre now testing samples from 800 patients for nine markers and they expect the accuracy of the test to improve. (Marley, 11/3)

Stat:FDA To Consider New Evidence, Risks Behind Fecal Matter TransplantsOn Monday, the Food and Drug Administration will host its first formal discussion about fecal microbiome transplants in years less than a week after a paper in the New England Journal of Medicine disclosed new details about the first death ever conclusively linked to the procedure, often abbreviated to FMT. The Monday meeting, which will be happening at the FDAs headquarters in White Oak, Md., will cover the safety and effectiveness of FMT as a treatment for repeated (and potentially fatal infections) of Clostridium difficile bacteria. (Sheridan, 11/1)

Stat:FDA: Zantac Does Not Form A Carcinogen, But Some Pills Should Be RecalledAfter running simulated testing, the Food and Drug Administration says it has not found evidence that Zantac and similar heartburn medicines form a possible carcinogen in patient stomachs or small intestines. Nonetheless, the agency also indicated some of the medicines contain higher than acceptable levels of NDMA, and asked manufacturers to voluntarily withdraw those pills. The move marks the first time the FDA has suggested drug makers should recall their heartburn medicines, which are called ranitidines, after opening a probe several weeks ago. (Silverman, 11/1)

CBS News:Life Expectancy For American Men Drops For A Third YearLife expectancy for American men dropped for a third consecutive year, with the National Center for Health Statistics citing an increase in so-called "deaths of despair," such as the rise in drug overdose deaths.The average lifespan of men in the U.S. dipped to 76.1 years in 2017 (the latest data available), amounting to a four-month decline in life expectancy since 2014. The findings shed additional light on economic research into the sharp increase in recent years in deaths from overdoses and suicides among white men with less education. (Picchi, 10/31)

NPR:Rashes Can Look Very Different On Different Shades Of SkinWhen Ellen Buchanan Weiss' son was about a year old, he broke out in a rash little bumps that appeared to be hives. So Buchanan Weiss did what a lot of new parents do: She turned to the Internet to find images that matched the rash she was seeing on her little boy. "I'm trying to figure out would I be paranoid if I went to the doctor at this point? Is that a reasonable thing to do? So I started googling it," says Buchanan Weiss, who lives with her family in Raleigh, N.C. (Prichep, 11/4)

The New York Times:Armed With A New Laptop, He Is On A Path To A DegreeWhen he was growing up, Warren Williams wanted nothing more than to play baseball and watch Scooby-Doo. I just wanted to be normal, like other kids, he said. But his health often took the joy out of his childhood. Mr. Williams, 26, was born with H.I.V. One of his earliest memories is from when he was 4: A mass had developed in his chest and he was rushed to a hospital to have open-heart surgery. The doctors gave him a stuffed Barney the dinosaur to keep by his side on the operating table. (Aridi, 11/3)

The Associated Press:Scientists Retract Study Suggesting Mutation Shortens LifeScientists have retracted a study that appeared to show people may live shortened lives if they carry a DNA mutation that reduces their chance of HIV infection. The study focused on people who carry a specific mutation in both copies of a gene called CCR5. It was published in June in the journal Nature Medicine and covered by news outlets including The Associated Press. (11/1)

The Washington Post:Ali Meyer Records Breast Cancer Diagnosis Live On Facebook For KFOR NewsAli Meyer live-streamed her first mammogram with other women in mind. The veteran journalist was wary of making herself the center of the story, she remembers, but she wanted to remind people to schedule their own appointments so they could catch breast cancer early. Then a nurse came in to say the radiologist would prefer to see Meyer with the camera off. In private, the doctor told Meyer she would need more imaging. At 40 years old, she realized, she might have cancer. (Knowles, 11/2)

NPR:How To Fall Asleep: These Daytime Habits Will HelpIf turning back the clock an hour for the end of daylight saving time leaves you feeling jangly, imagine the toll that chronic sleep loss can take on your health. The evidence has piled up. We all need good sleep. And our bodies crave regular routine. Without it, we set up ourselves for increased risk of anxiety, depression, weight gain, even dementia. (Aubrey, 11/3)

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Physician Goes Behind The Scenes To Write Compelling Story About Treating Patients With New Cancer Gene Therapy - Kaiser Health News