Category Archives: Genetic medicine

Forty-two new genes related to Alzheimers disease (AD) have been discovered, reports the European Alzheimer & Dementia Biobank consortium in a study published on April 4 in Nature Genetics. As the largest study of genetic risk for AD, its findings will be the foundation for new research ideas and treatments. It certainly has raised the interest of MUSC researchers.

There is still so much we dont know about Alzheimers disease, said Lori L. McMahon, Ph.D., vice president for Research at MUSC. As researchers, were working to find the causes of this disease, and identifying genetic risk factors is an essential discovery and could lead to improving lives of those dealing with its effects.

Several leading AD researchers in the Department of Pathology and Laboratory Medicine at MUSC were asked to offer insights into what these findings means for the future of AD research and treatment. Steven Carroll, M.D., Ph.D., chairs the department and heads up the Carroll A. Campbell Jr. Neuropathology Laboratory, a brain bank that serves as an important resource for researchers studying AD and other dementias. In his own research, Carroll has identified chemical tracers that concentrate in regions of the brain affected by AD, allowing them to be visualized by a scan. This visualization provides a potential means to detect AD early and monitor its progression.

Hongkuan Fan, Ph.D., an associate professor in the Department of Pathology and Laboratory Medicine, collaborates with Perry Halushka, M.D., Ph.D., Distinguished University Professor of Cell and Molecular Pharmacology, to study the role leaky blood vessels caused by inflammation could play in the development of AD. They have recently identified a potential therapeutic target.

Eric Hamlett, Ph.D., an assistant professor in the Department of Pathology and Laboratory Medicine, studies the aging brain and has shown in an animal model that a certain type of fat cell can help to resolve inflammation and could potentially help to prevent memory loss caused by long-term inflammation in patients with AD and Down syndrome.

Q. Before these findings, what were the limitations in AD research, and how have they addressed those limitations?

A.(Carroll) One of the big limitations has been that we didnt have a complete understanding of what causes the disease. These findings are really helping us in a couple of ways. First, it confirms the importance of key players in AD development that we had already identified such as amyloid and tau. Second, it drives home the message that other cell types, such as microglia, play a very important role in the inflammatory process that is essential for the development of the disease. Our understanding is evolving. We once thought of AD as a disease of neurons. Its now becoming clear that AD is a disease that involves complex interactions between numerous cell types in the brain and not just neurons alone.

You know, this is about 42 new genes that had not been previously implicated in causing the disease. And now this means that there are a whole host of new pathways that can be studied to treat people with AD and other dementias.

A. (Fan) Recently, people have realized that if we only target amyloid or tau, that will not be sufficient to cure AD. Therefore, a broader picture is needed to improve our understanding of the underlying mechanisms. The study identified 42 new genes involved in AD development, broadening our understanding of AD pathology. This will encourage people in this field to study these genes and understand how they are involved in AD development. This research could lead to a novel treatment for AD.

Q. How will this finding affect patient treatment?

A.(Carroll) There has been some speculation that AD may not be just one disease. There may be several different types of it. Now that we've got a much broader handle on a large number of genes involved in causing AD, we can begin looking at whether some of these genes are involved in some cases of AD and others are involved in other cases. So, if that turns out to be the case, then it means there may not be a one-size-fits-all therapeutic approach for AD. We may need to sort out whether there are subtypes of AD so that treatment can be personalized based on a patients subtype.

The authors of this paper developed a scoring method that could be used to measure how many of these potentially causative variants an individual with Alzheimers has. That raises the possibility that we might be able to identify individuals who are at higher risk and prioritize them for early treatment with some of the currently available medications.

A. (Hamlett) What we really want to do is to treat something like AD extremely early, when people are in their 50s and 60s and not yet showing symptoms because thats when treatments are most likely to be effective. This paper provides a more extensive road map into the pathways involved in the development of AD. We have to know all the factors that are in play so that we can try to find a biomarker that can predict disease onset.

Q. What does this paper teach us about the role of inflammation in the development of AD?

A.(Hamlett) I study factors that affect inflammation. I'm excited that this articles findings support our approach and provide more rationale for studying inflammatory responses. I was also excited to see that Im not currently studying some of the genes identified by the paper as important to inflammation. I need to fold these discoveries into how I look at inflammation. Im sure there are many other researchers who are thinking the same thing. Inflammation is clearly playing at least some sort of temporal role in the development of the disease.

A.(Fan) This paper highlights the immune response and inflammation in AD development. We recently discovered that a transcription factor named Fli-1 plays a critical role in AD development and that it may be a therapeutic target for AD. If we suppress Fli-1, we can dramatically suppress inflammation levels. The focus of my research will be on limiting neural inflammation and trying to develop a treatment strategy for AD.

Q. What do you think is the most important takeaway from this research?

A.(Carroll) I think the most important takeaway is that AD is a lot more complicated than we realized. However, an understanding of it is within our grasp, and these findings provide much-needed clarity as to who the players are and what the critical pathways are that are involved in this disease. This is going to give us a very strong foundation for a lot of hypothesis-driven studies moving forward that are going to clarify whats causing the disease and how we can intervene to treat it.

Q. How might the studys findings of a genetic basis for AD be misinterpreted by the public? Do you have words of caution to offer?

A. (Hamlett) If you read this paper, you may come from it and think Oh my goodness, my dad or my brother has got Alzheimers. Im going to get it now. Thats not the case. Lifestyle also matters. This study does not address your risk for AD if you're eating a good diet or you have a healthy lifestyle. Theres no way to understand accurately how each of these mutations interfaces with lifestyle, and thats the part thats missing. The discovery of genetic fingerprints can be awfully scary. But what do we do about that? We continue to maintain a good lifestyle until researchers can find drug targets using this new information to decrease our chance of getting AD.

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Forty-two steps in the right direction for Alzheimer's research - Medical University of South Carolina

Newly published insights into the causes of foveal hypoplasia may allow clinicians to make quicker and more accurate diagnoses of the underlying conditions, in some cases preventing complications.

Using genetic tests and optical coherence tomography (OCT), ophthalmologists may be the first to identify a genetic disorder, such as albinism, said Mervyn Thomas, FRCOphth, PhD, an academic clinical lecturer in ophthalmology and genetic medicine at the University of Leicester, United Kingdom.

"Often the first presenting sign in these children is the nystagmus, or wobbly eyes," he told Medscape Medical News.

In Ophthalmology, Thomas and his colleagues published an analysis of how genetic variants relate to the structure and function of foveal hypoplasia.

Because foveal hypoplasia is rare, a collaboration of 12 centers in nine countries pooled their data, and researchers drew other cases from published literature, to create a database of 907 cases.

Each of those patients had both a molecular diagnosis and OCT scans of the fovea. Their average age was 22.7 years.

The advent of handheld OCT scanners has facilitated the research and diagnosis of foveal disorders in children who can't easily hold their chins steady on a chinrest for a standard OCT scan, Thomas said. "In Leicester, we've been one of the pioneers to use a handheld device, which looks like a hairdryer. We can take images in children and even in infants really looking at the structure of the fovea," he explained.

The researchers used the Leicester Grading System, which Thomas and colleagues developed. The system divides foveal hypoplasia into two types: typical and atypical. Typical foveal hypoplasia is characterized by the progressive loss of inner retinal layers posterior to the fovea. Atypical foveal hypoplasia is associated with photoreceptor degeneration.

The grading system itself can help predict the future visual acuity of preverbal children with nystagmus, Thomas said. And by linking the grading system to genetic variants, the researchers can make a prognosis based on genetic testing.

"Let's say, in some center they can't actually have access to specialized optical coherence tomography," said Thomas. "In reality, you don't need that. You can actually just do a saliva swab or a buccal swab. And from the saliva sample itself, we can sequence the known genes that we've characterized in this study."

This approach can spare children from more invasive testing such as MRI, which may require general anesthesia.

Although no treatment is yet available, a better prognosis can still help the patient. For example, if a child's visual acuity is worse than predicted, clinicians know to look for some other causes, such as a refractive error. Correcting such an error early on can prevent amblyopia, Thomas said.

Other diagnoses can lead to concerns outside the eye. "As soon as someone's diagnosed with albinism, they get referred not only to the ophthalmologist, but in addition to that to a dermatologist to ensure that they have adequate skin protection," Thomas said.

People with Hermansky-Pudlak syndrome may also benefit from care of other specialists, he added.

Furthermore, the findings open up the possibility for more practical research, Thomas said. "This lays the foundation that allows us to think about treatments and start moving forward in that direction," he noted.

Raj K. Maturi, MD, an associate professor of ophthalmology at Indiana University in Indianapolis, who was not involved in the study, said it will help diagnose diseases that can appear very similar. "You have a symphony of data that puts together information, starting from the molecule all the way to the phenotype, in a completely logical, understandable, stepwise fashion," said Maturi, a spokesperson for the American Academy of Ophthalmology, in an interview with Medscape Medical News.

In this study, the most common genetic etiology for typical foveal hypoplasia was albinism (affecting 67.5%), followed by PAX6 (21.8%), SLC38A8 (6.8%), and FRMD7 (3.5%) variants. AHR variants were rare (0.4%). In 67.4% of achromatopsia cases, the researchers found atypical foveal hypoplasia.

Patients with atypical foveal hypoplasia had significantly worse visual acuity compared to typical foveal hypoplasia (P < .0001).

The FRMD7 cohort had the best visual acuity. This variant was associated with grade 1 (normal) morphology, and was suggestive of developmental arrest at a later time point.

Albinism, SLC38A8, and PAX6 gene variants were associated with worse visual acuity, possibly because they mostly fell into grades 3 and 4 of foveal hypoplasia.

Within albinism, the researchers categorized the ocular albinism and Hermansky-Pudlak syndrome as grades 3 and 4, and the oculocutaneous albinism as across a spectrum of grades.

They identified a narrow spectrum of foveal hypoplasia in SLC38A8 variants (grade 3-4).

The study was funded by the UK Medical Research Council, Fight for Sight, Nystagmus Network, Ulverscroft Foundation, Wellcome Trust, Korea Centers for Diseases Control and Prevention, and the National Research Foundation of Korea. Neither Thomas nor Maturi reported any relevant financial interests.

Ophthalmology. Published online February 11, 2022. Full text

Laird Harrison writes about science, health, and culture. His work has appeared in national magazines, in newspapers, on public radio, and on websites. He is at work on a novel about alternate realities in physics. Harrison teaches writing at the Writers Grotto.Visit him at http://www.lairdharrison.com or follow him onTwitter: @LairdH

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Researchers Pinpoint Causes of Foveal Hypoplasia - Medscape

The partnership will address some critical issues in pharmacogenetic assay through sequencing workflows improvement

SINGAPORE, April 19, 2022 /PRNewswire/ -- MGI, a company committed to being a world-leading life science innovator, today announced a partnership with Nalagenetics (NALA) to co-develop low coverage whole genome sequencing for risk prediction and population genomics through optimizing Next Generation Sequencing (NGS) workflow based on MGI sequencing devices and products*.

The collaboration aims to use NALA'sClinical Decision Support, a software medical device, to be able to analyze whole genome sequencing data sets generated by MGI's DNBSEQ sequencing platform* and generate clinical-grade reports for pharmacogenomics and polygenic risk scores. Although NGS has been known to be an effective way to capture a large amount of genomic information to guide and tailor clinical management and treatment[1], NGS workflows are complicated and not trivial to adopt in clinical settings. NALA is dedicated itself to helping implement clinical genetic testing in Southeast Asia. It has strong expertise in pharmacogenetics, population genomics, assay development, and AI-linked genetics analysis for pharmacological phenotypes and risk prediction.

"Genetic testing adoption in Southeast Asia is still low despite interest from customers, as Next Generation Sequencing is a multi-step process that can be complex and difficult to implement in existing settings. The partnership with Nalagenetics will merge both our expertise and bring about a simplified Next Generation Sequencing workflow with automation, sequencing primer design and process QC within current healthcare framework," said Dr. Roy Tan, General Manager, MGI Asia Pacific.

"We see more and more hospitals adopting sequencing for personalization of medicine in oncology, cardiovascular conditions, and others. One of the biggest challenges is recommending follow up action that makes sense for the local market, for example, list of alternative therapies and screening procedures that lead to cost-effectiveness. We are glad to work with MGI to co-develop products and offer services to answer local needs," said Levana Sani, CEO of Nalagenetics.

About MGI

MGI Tech Co., Ltd. (MGI), an affiliate of BGI Group, is committed to building core tools and technology to lead life science through intelligent innovation. Based on its proprietary technology, MGI focuses on research & development, production and sales of sequencing instruments*, reagents*, and related products to support life science research, agriculture, precision medicine and healthcare. MGI's mission is to develop and promote advanced life science tools for future healthcare. As of December 2020, MGI has a footprint that spans across more than 70 countries and regions, serves over 1,000 international users and employs more than 1,700 professionals globally, around 33% of which are R&D personnel. For more information, please visit the MGI websiteor connect on Twitter, LinkedInor YouTube.

*Unless otherwise informed, StandardMPS and CoolMPS sequencing reagents, and sequencers for use with such reagents are not available in Germany, USA, Spain, UK, Hong Kong SAR, Sweden, Belgium, Italy, Finland, Czech Republic, Switzerland and Portugal.

About Nalagenetics

Nalagenetics is a biotechnology technology company focusing on personalized screening and intervention. Nalagenetics aims to provide affordable and actionable end-to-end genetic testing that is relevant to local populations by working with hospitals and labs. The company's main product, Clinical Decision Support, allows providers to generate clinical-grade genetic reports from raw genetic data files and clinical input. Nalagenetics has presence in Southeast Asia and Europe. For more information, please visit http://www.nalagenetics.com.

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MGI announces partnership with Nalagenetics to advance personalized medicine - The Korea Herald

MONDAY, April 18, 2022 (HealthDay News) -- COVID-19 is mainly known as a respiratory ailment, but a new study suggests the coronavirus can infect your intestinal tract for weeks and months after you've cleared the bug from your lungs.

In the study about 1 out of 7 COVID patients continued to shed the virus' genetic remnants in their feces at least four months after their initial diagnosis, long after they've stopped shedding the virus from their respiratory tract, researchers found.

This could explain why some COVID patients develop GI symptoms like abdominal pain, nausea, vomiting and diarrhea, said senior researcher Dr. Ami Bhatt, an associate professor of medicine and genetics at Stanford University.

"We found that people who had cleared their respiratory infection -- meaning they were no longer testing positive for SARS-CoV-2 in their respiratory tract -- were continuing to shed SARS-CoV-2 RNA in their feces," Bhatt said. "And those people in particular had a high incidence of GI symptoms."

A long-term infection of the gut also might contribute to long COVID symptoms in some people, Bhatt and her colleagues theorized.

"Long COVID could be the consequence of ongoing immune reaction to SARS-CoV-2, but it also could be that we have people who have persistent infections that are hiding out in niches other than the respiratory tract, like the GI tract," Bhatt said.

For this study, the research team took advantage of an early clinical trial launched in May 2020 at Stanford to test a possible treatment for mild COVID infection. More than 110 patients were monitored to follow the evolution of their symptoms, and regular fecal samples were collected as part of an effort to track their viral shedding.

Many other studies have focused on viral shedding in patients with severe cases of COVID, but this is the first to assess the presence of viral RNA in fecal samples collected from people with mild to moderate COVID, researchers said.

About half of the patients (49%) had COVID RNA remnants in their stool within the first week after diagnosis, researchers found.

But at four months following diagnosis, when no more COVID remained in their lungs, nearly 13% of patients continued to shed viral RNA in their feces.

About 4% still were shedding viral RNA in their feces seven months out from their initial diagnosis, researchers found.

Bhatt was quick to note that the RNA constituted genetic remnants of the coronavirus, and not actual live virus -- so it's unlikely a person's poop could be contagious.

"While there have been isolated reports of people being able to isolate live SARS-CoV-2 virus from stool, I think that that's probably much less common than being able to isolate live virus from the respiratory tract," Bhatt said. "I don't think that our study suggests that there's lots of fecal-oral transmission."

But the lingering presence of COVID in the gut does suggest one potential influence for long-haul disease, she said.

"SARS-CoV-2 might be hanging out at the gut or even other tissues for a longer period of time than it sticks around in the respiratory tract, and there it can basically continue to kind of tickle our immune system and induce some of these long-term consequences," Bhatt said.

Long COVID has become such an established problem that many major medical centers have established their own long COVID clinics to try to suss out symptoms and potential treatments, said Dr. William Schaffner, medical director of the National Foundation for Infectious Diseases.

"A very substantial proportion of individuals who recover from COVID acutely nonetheless have lingering symptoms, and they can involve an array of different organ systems," Schaffner said.

"These data add to the notion that the cells in the intestine may themselves be involved with COVID viral infection, and they could potentially be contributors to some of the symptoms -- abdominal pain, nausea, kind of just intestinal distress -- that can be one aspect of long COVID," he said.

Bhatt said the findings also have implications for public health efforts to predict emerging COVID outbreaks by testing a community's wastewater for evidence of the virus, and Schaffner agrees.

"If, as they say, about 4% of people seven or eight months later are still excreting viral remnants in their stool, it complicates the assessment of the density of new infections in a community," Schaffner said. "It's another thing we have to take into consideration and start looking at going forward."

But Dr. Amesh Adalja, a senior scholar with the Johns Hopkins Center for Health Security, doesn't agree that such long-term shedding in stool should affect the accuracy of wastewater COVID surveillance.

"I dont think that these findings change the value of wastewater surveillance, as weve already seen its value in real life," Adalja said. "Whats valuable about wastewater surveillance is the trend if it is increasing or decreasing, which isnt really impacted by this phenomenon."

The new study appears in the online journal Med.

More information

The U.S. Centers for Disease Control and Prevention has more about wastewater surveillance for COVID-19.

SOURCES: Ami Bhatt, MD, PhD, associate professor, medicine and genetics, Stanford University, Stanford, Calif.; William Schaffner, MD, medical director, National Foundation for Infectious Diseases; Amesh Adalja, MD, senior scholar, Johns Hopkins Center for Health Security; Med, April 12, 2022

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Coronavirus Found in Human Feces Up to 7 Months After Infection - HealthDay News

The UAB Cardiogenomics Clinic provides genetic testing and counseling for a gene variant associated with a risk of heart failure and death.

Researchers believe that the presence of the Val122Ile genetic variant in African Americans is believed to predispose them to the development of transthyretin amyloidosis, which can lead to higher risk of heart failure.A new study published in the Journal of the American Medical Association led by researchers from the University of Alabama at Birmingham Marnix E. Heersink School of Medicine found that being a carrier of a genetic variation known as Val122Ile in the transthyretin, or TTR gene, was significantly associated with an increased risk of heart failure and death. Research shows that this Val122Ile variation is more commonly seen among individuals of African ancestry.

Transthyretin protein is produced by the liver and helps circulate vitamin A and thyroxine through the body. This genetic variation causes misfolding of the transthyretin protein leading to hereditary transthyretin amyloidosis, a condition characterized by the buildup of abnormal deposits of a protein in the bodys organs and tissues. As buildup increases over time, the heart may become stiff, leading to cardiomyopathy, a disease of the heart muscle that makes it difficult to pump blood through the heart.

For this study, UAB researchers Vibhu Parcha, M.D., and Pankaj Arora, M.D., looked at this genetic variation in a cohort of 7,500 Black individuals living in the United States.

The TTR Val122Ile genetic variant is unfortunately more common among those of African ancestry with nearly three out of 100 individuals carrying the genetic variation, said Parcha, a clinical research fellow in the UAB Cardiogenomics Clinic and the UAB Division of Cardiovascular Disease.

Parcha says the presence of the Val122Ile genetic variant in African Americans is believed to predispose them to the development of transthyretin amyloidosis.

We wanted to examine whether carrying this genetic variant will lead to a higher risk of new-onset heart failure, death due to heart failure, cardiovascular causes or any other causes, Parcha said.

(Left) Vibhu Parcha, M.D., clinical research fellow in the UAB Cardiogenomics Clinic and the UAB Division of Cardiovascular Disease. (Right) Pankaj Arora, M.D., an associate professor in the Division of Cardiovascular Disease and director of the UAB Cardiogenomics Clinic.In this study, researchers analyzed participants from the REasons for Geographic and Racial Differences in Stroke study living in the United States without baseline heart failure. Among 7,514 Black participants, the population frequency of the TTR Val122Ile variant was 3.1 percent. Over a median follow-up of 10.9 years, Val122Ile variant carriers had a higher risk of incident heart failure compared with non-carriers. Over a median follow-up of 11.6 years, Val122Ile variant carriers had a higher risk of mortality compared with non-carriers. Overall researchers found that those with the TTR Val122Ile variant had a 2.5-fold higher risk of heart failure and a 40 percent higher risk of death from any reason.

Among those with the pathogenic TTR Val122Ile genetic variation, the heart may gradually become unable to function correctly, which will lead to heart failure and ultimately death, said Arora, an associate professor in the Division of Cardiovascular Disease and director of the UAB Cardiogenomics Clinic. However, the true probability of genetic variation being expressed in all those with the variant is not known, and further work is needed to understand this. The good news is that there are several new treatments approved or awaiting approval for this hereditary heart disease.

Medical facilities like the UAB Cardiogenomics Clinic provide genetic testing for this variant. At the clinic, those who carry this variant will have access to comprehensive genetic counseling and assessment of their heart structure and function.

Those with the variant may be eligible for getting access to evidence-based therapies that improve their heart health and improve their long-term outcomes, Arora said. It is also important to identify any family members who may have the genetic variation as they will benefit from early diagnosis and access to medical therapies that improve their health.

Learn more about the UAB Cardiogenomics Clinic here.

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Genetic variation common among Black individuals is associated with higher risk of heart failure and death - University of Alabama at Birmingham

After that, you sit back and you wait for your results to come in and you wait for information to come to you. So if there's a new survey that comes out, well let you know, and it's up to the individual, how much, or how little they want to participate. Again, we'd love everyone to continue to complete the surveys as they go along because the more information that we have about lifestyle, environment, family health history, social determinants of health, all of that helps researchers have a more dynamic and full understanding of what is going on. Not only with the individual, but they can see it on a larger scale in communities and different populations.

La Keisha Jones:One thing with a trial is that you are providing treatment. We do not provide treatment. We are just collecting information to create a data cohort of information for researchers to look at and that would be the difference there. The one thing that we do offer, though, is that if something is discovered individuals are notified. If there is something of health significance with the genetic results that is found, then a genetic counselor is offered to them to explain what this means to them and what it can mean to their family.

Our program is giving information back so that people can have more informed conversations. They can be more informed about their risk for a disease possibly, or the risks that they may or may not face. Again, if something comes back, it doesn't necessarily mean that disease could take place, but if they are aware of it, they can keep it to themselves or they could share it with their family, or they could take it to their doctor and just say, "Hey, you know, we would never have known this because genetic testing isn't on the list of things that normally take place and I might be at risk. What should we do about it?" Maybe it means earlier screenings. Maybe it means making healthier decisions.

There are also different levels of participation. Some people just decide they want to do the online portion. Some people want to provide genetic information but not to receive their results. You have the option to say yes, no, maybe, or I don't know yet.

Lakeisha Jones:Anyone over the age of 18 can enroll. It doesn't matter if you have any diseases or don't have any diseases, anything of that sort. We do ask individuals to have an address in the U.S. and contact information here in the U.S. for about six months out of the year, just so that when information is returned, they can make sure that they can be followed up with and be contacted. You don't need health insurance to participate and you do not need to be a U.S. citizen.

That's the beautiful thing about New York, too, we have a very diverse staff. Our staff is bilingual, English and Spanish.

To sign up online or find phone numbers of where to talk to someone about the program, you can visit the New York City Consortium websiteor call 212-205-9927.

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The 'All of Us' Research Program Is Helping Make Medicine More Precise for Diverse Populations. Five Years In, How Is It Going? - Columbia | Neighbors

An innovative and potentially life-extending drug for treating people with a specific gene mutation of advanced non-small-cell lung cancer (NSCLC) has been recommended by NICE and will be available to patients from today (Thursday, 14 April).

The drug has been recommended for routine use across the NHS in England through Project Orbis, a programme to review and approve promising cancer drugs helping patients access treatments faster.

NICE has published its final appraisal document recommending tepotinib (also known as Tepmetko and produced by company Merck Serono Ltd) as an option for treating advanced NSCLC with METex14 skipping gene alterations in adults.

People with METex14 skipping alterations of NSCLC make up between 1-2% of all adults with lung cancer in England.

Those with METex14 skipping NSCLC are currently offered the same standard care as people with NSCLC without this specific biomarker, with treatments including chemotherapy, immunotherapy, and combinations of the two, known as chemo-immunotherapy. People with METex14 skipping NSCLC currently have a poorer prognosis than people without the biomarker.

Tepotinib, which requires people to take two tablets once daily, provides a new targeted treatment for adults with METex14 skipping gene alterations. Just over 700 people in England would be eligible to receive tepotinib as either a first or second-line treatment.

Clinical trial evidence, which included examining previous trial data and analysing real-world data, shows that although there is limited data, tepotinib may extend life.

Tepotinib is likely be offered as a first-line treatment for people with METex14 skipping NSCLC, once it has been confirmed by genomic testing. Medical practitioners would continue to use other first-line treatment options until the mutation had been confirmed.

Helen Knight, interim director for medicines evaluation at NICE, said:For the first time, people with advanced stage non-small-cell lung cancer (NSCLC) could be able to access a treatment which specifically targets the METex14 skipping mutation.

This treatment has the potential to extend peoples lives and allows patients to take tablets rather than undergoing chemotherapy and chemo-immunotherapy, which requires them to spend a day in a hospital or other medical practice.

The option to use genetic testing to help diagnose whether a person has the METex14 skipping mutation, and then tailoring their treatment accordingly, is a significant development and we will continue to work with our partners to ensure innovative treatments which benefit people are made available as soon as possible.

A confidential price discount has been agreed between NHS England and Improvement and the company, through a commercial agreement ensuring the treatment is available to patients from today.

Professor Dame Sue Hill, Chief Scientific Officer and Senior Responsible Officer for Genomics in the NHS, says:

The approval of this new treatment is fantastic news and to ensure patients receive it, the genomic test for this particular type of lung cancer will be added it to the National Genomic Test Directory.

This means patients carrying the gene mutation can benefit from the most effective treatments and its a great example of how the NHS Genomic Medicine Service is harnessing the power of genomics to deliver precision medicine straight to patients.

Further details on the final appraisal document on tepotinib for treating advanced non-small-cell lung cancer with MET gene alterations can be found here.

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Over 700 people a year could benefit from a new potentially life-extending lung cancer drug which targets a specific genetic mutation - NICE

By Anuradha Sriram

A recent study shows that the percentage of women who have health insurance in India, is still low. This is a trend that should spark concern, considering that women need health insurance just as much as men do, and in fact, need insurance that is tailored to meet their specific requirements. Statistically, women tend to outlive men, in India and in most parts of the world. This means that women live longer into old age - a time when health needs peak, and hospitalisations can be frequent. Women are also at risk of several diseases and conditions that are specific to them.

It's obvious then that women need health insurance, but what should you consider when purchasing one? To find a policy that delivers on its promise, you must take into account the following considerations:

Medical science is doing it's bit - advances have been made in critical and chronic care, cancer treatment and prevention, and genetic medicine is growing by leaps and bounds. Women need to do their bit by paying more attention to their health, undergoing regular medical check-ups and buying the right insurance policy to give themselves the best chance of recovery.

By Anuradha Sriram Chief Actuarial Officer at Aditya Birla Health Insurance

*DISCLAIMER: The views expressed are solely of the author and ETHealthworld does not necessarily subscribe to it. ETHealthworld.com shall not be responsible for any damage caused to any person / organisation directly or indirectly.

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What should a women look for in a health insurance policy? - ETHealthWorld

Luxturna uses a non-disease-causing virus to deliver a normal copy of the RPE65 gene to retinal cells, enabling them to make proteins capable of improving and preserving visual function.

Luxturna uses a non-disease-causing virus to deliver a normal copy of the RPE65 gene to retinal cells, enabling them to make proteins capable of improving and preserving visual function.The University of Alabama at Birmingham Callahan Eye Hospital has been named one of the newest sites for Spark Therapeutics LUXTURNA (voretigene neparvovec-rzyl), the first FDA-approved gene therapy treatment for a genetic disease.

It is a prescription gene therapy used for the treatment of patients with inherited retinal disease due to mutations in both copies of the RPE65 gene, which can only be confirmed through genetic testing. Patients must have viable retinal cells as determined by the treating physicians.

Leber Congenital Amaurosis (LCA) is one retinal degenerative condition and a leading cause of genetic blindness in children. Patients with LCA start to lose their vision in the first five years of life, and it gets progressively worse as they age. Most patients are considered legally blind due to the profound vision loss it causes.

One subtype is caused by inherited mutations in both copies of the RPE65 gene. When patients have mutations in both of copies oftheir RPE65 gene, the normal visual cycle cannot take place, and retinalcells die over time.

LUXTURNA uses a non-disease-causing virus to deliver a normal copy of the RPE65 gene to retinal cells, enabling them to make proteins that have the potential to make the visual cycle work properly again.

Jason Crosson, M.D., and Richard Feist Jr., M.D., of Retina Consultants of Alabama will treat patients with RPE65 LCA, also known as LCA 2, at UAB Callahan Eye Hospital.

We are excited to offer patients with this debilitating condition the opportunity to see more clearly in low light environments for the first time in their lives, said Dawn DeCarlo, O.D., Ph.D., director of the UAB Center for Low Vision Rehabilitation in the Marnix E. Heersink School of Medicine. Patients in our area who were previously identified as good candidates for LUXTURNA have had to travel to other states to receive treatment. It is exciting that we will now not only be able to offer patients from Alabama treatment right here at UAB Callahan Eye Hospital, but we will also be a destination treatment center for patients throughout the Southeast.

UAB is now one of 14 treatment locations in the nation, and one of the few sites in the Southeast.

Our location, in Birmingham, is an asset because of our reputation as a top national eye center and the accessibility of our city for those living in the Southeast, said Brian Samuels, M.D., Ph.D., interim chair for the UAB Department of Ophthalmology and Visual Sciences. I am extremely proud of Drs. Paul Gamlin, Douglas Witherspoon, Dawn DeCarlo, Jason Crosson and Richard Feist Jr., who were instrumental in UABs becoming a designated treatment center.

We have already been notified there are patients from Alabama and the Southeast who are interested in receiving treatment here, Crosson said. We look forward to meeting our new patients soon and scheduling them for treatment.

LUXTURNA was developed by Spark Therapeutics. Patients interested in LUXTURNA should talk to their doctor to find out whether this treatment is right for them.

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UAB Callahan Eye Hospital offering new gene therapy treatment for an inherited retinal disease - University of Alabama at Birmingham

Posted on 02/22/2022

Eli Lilly and Company (NYSE: LLY) revealed the creation of the Lilly Institute for Genetic Medicine and an investment of approximately US$ 700 million to establish a state-of-the-art facility at a new site in the Boston Seaport. This investment part of the companys strategy to advance RNA based therapeutics builds on the 2020 acquisition and rapid expansion of Prevail Therapeutics, a gene therapy company based in New York City.

Through the work of the Institute, Lilly intends to fuel the development of genetic medicines, which already account for more than 20% of Lillys diabetes, immunology, and central nervous system research portfolio. Within 5 years, Lilly projects the Boston site will grow from 120 to more than 250 research biologists, chemists, data scientists and other experts in genetic medicine, while the New York site will grow to include up to 200 scientists all employed by Lilly.edicines that make life better for people around the world.

The Institute will be headquartered in 334,000 sq. ft. of leased space in a 12-story building, developed and operated by Alexandria Real Estate Equities, Inc., in the rapidly expanding Seaport district of Boston. Occupancy of the new site is scheduled for 2024.

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Eli Lilly and Company Launches the Lilly Institute for ...