Medical technologies that will disrupt (and improve) healthcare in the 2020s – Universe.byu.edu

Innovations in medical technologies could save many lives. (Prasesh Shiwakoti via Unsplash)

The race to integrate medical technology into the healthcare industry doesnt always seem like an altruistic, humanitarian project. Too often, we get distracted by the financial profits and politics involved. But at the end of the day, new technological applications in diagnosis and treatment carry the potential of saving millions of lives a year while also dramatically reducing our overall healthcare costs.

After all, what could be a better fix for our societys healthcare conundrum than majorly decreasing the rate of suffering and mortality? If fewer people get sick and require costly complicated procedures and surgeries, hospitals and medical facilities can invest more time and resources into curing some of the major afflictions like cancer and heart disease.

The following are a few different medical technologies, innovations and applications that could change the face of healthcare in the coming decade:

Flow cytometry

Flow cytometry is not new as a diagnostic procedure nor as a research technique but its steady growth over the last few decades has changed the field of oncology. Developed in the 1970s as a method of identifying complex cell populations in human tumors, flow cytometry is a key component in understanding diseases and how they affect cellular processes.

A specialized form of flow cytometry, fluorescence-activated cell sorting (FACS), as well as multicolor flow cytometry, has allowed for continued refinement in the field. As the knowledge base expands, so too do our powers of diagnosis and treatment.

Stem cell cure for diabetes

Type 1 diabetes is far less common than type 2, accounting for only 5-10 percent of the diabetes-afflicted U.S. population. Nevertheless, it is an incurable, autoimmune disease that affects 1.25 million Americans, mostly kids and young adults, who grow up taking insulin injections.

While there is no cure, a new treatment may be on the horizon that could dramatically improve the lives of those who suffer from it. Some scientists and biologists believe that stem cells can be used to manufacture insulin-producing replacement beta cells. Hundreds of millions of dollars in research and development have gone into prototypes of implantable devices that basically act as crossing guards for the immune system, letting glucose and insulin in but keeping undesirable cells out.

Artificial intelligence that can diagnose cancer

One of the nefarious and difficult realities of cancer is that sometimes it doesnt express symptoms until its already too far along. For example, lung cancer screenings often beckon high-risk people to get CT scans but these carry their own risks and problems.

The answer, according to some, is essentially replacing radiologists with advanced AI whose algorithms can more easily spot cancer and deliver fewer false positives and false negatives.

AI is not only improving the image scanning capabilities of modern science, neural nets could bolster the entire field of genomics. With 18 million new global cases of cancer in 2018 alone, this diagnostic collaboration of humans and AI could turn out to be one of the grandest medical endeavors in history.

3D digital heart

This one truly does sound like something out of a science fiction novel, but its actually simpler than it sounds. This wouldnt be an actual digital heart inside the patients chest, but rather a personalized simulated computer model that would allow doctors to diagnose blockages in arteries without needing invasive catheterization.

Previously, a patient with a malfunctioning heart or one with insufficient blood flow only had a few options and they were very serious treatments. A 3D digital heart would allow doctors to more easily study coronary problems and figure out the best way to treat them without scary, painful diagnostic procedures.

Of course, back in the science fiction realm, there are doctors experimenting with actually creating synthetic organs, even hearts, using 3D printed cells and tissues. This kind of technology probably wont be used in a real procedure anytime in the near future, but 10 years from now we could be forecasting it as a technology of the 2030s.

With the spread of the COVID-19 pandemic, the need for medical innovation has never been so clear. While its hard to know what the end results of the tragic coronavirus will be, we can at least hope that it pushes along more technologies and diagnostic tools to advance the field of medical technology.

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Community Cord Blood Banking saves life of child with aplastic anaemia – The Hindu

Community Cord Blood Banking, a stem cell banking initiative introduced by LifeCell in 2017, has helped save the life of a seven-year-old girl from Nashik in Maharashtra who was suffering from aplastic anaemia, a rare and serious blood disorder.

In a major breakthrough, a team of senior doctors from LOTUS Institute of Haematology, Oncology and Bone Marrow Transplantation, recently conducted Indias first dual cord blood transplant through an unrelated donor using Community Stem Cell Banking. People familiar with the development said the transplant was challenging because no apt bone marrow donors were available and the cost of retrieval of matching units from public cord blood banks would have been high.

The girls parents, as members of LifeCell Community Bank, placed a request for two matching cord blood units after the childs sibling was found to be only a 50% (4/8) match. Two high-quality matches (7/8) were found in the registry, which fulfilled the requirement for umbilical cord blood transplantation. The parents could withdraw the matched units at no extra expense, which would have cost around 45 lakh per unit.

Mayur Abhaya, MD, LifeCell International said, The purpose of Community Cord Blood Banking is to ensure easy and rapid access to stem cells for every Indian without the hurdles of public and private banking models. While stem cells from the umbilical cord blood can be procured from global public banks, the probability of finding a match for a patient of Indian origin is less than 10% because of the low inventory of available units plus the big issue of donor dropouts.

Mr. Abhaya said, Luckily, since the family was a part of LifeCells community banking programme, they could gain quick, free access to the huge inventory of over 50,000 qualified and consented units available at LifeCell, which provides greater than 97% probability of finding a match.

In majority of blood-related disorders treatable by transplants, patients own stem cells are not suitable. Hence, the best donor is a close family member, usually a sibling. However, in this case, there was only a 50% match with the sibling, thus needing a match from an unrelated donor, LifeCell said in a statement. It said while a regular stem cell transplant requires a dose of 25 million cells per kg of the patients weight, for aplastic anaemia, the recommended minimum dose is 40 million cells per kg, which is not easy to find.

The community banking model made it possible and the child received a timely transplant with an encouraging prognosis. Just 18 days after the transplant, white blood cells were completely engrafted, and platelets and red blood cell production also increased drastically, the statement added.

Dr. Pritesh Junagade, director, LOTUS Hospital, expressed surprise that the retrieval process for two cord blood units was smooth and at no additional cost to the patient as compared to other banking models.

Tasneem Bohari, the childs father, said: It was two years ago that my daughter was diagnosed with aplastic anaemia. At the time of diagnosis, the doctors had suggested she would need a stem cell transplant eventually and it would be the best possible treatment in the future.

The family did research and made enquiries about which stem cell bank to opt for as they were expecting their second child. It was during this time that their friends and relatives suggested LifeCell to them. Their doctor also suggested that they could go ahead and preserve their babys stem cell with LifeCell.

At the time of preservation, we didnt have much idea about Community Stem Cell Banking and its benefits, but today we are happy to associate with LifeCell, who have helped my daughter lead a quality life through cord blood transplant, Mr. Bohari said.

Community Cord Blood Banking allows sharing of preserved umbilical cord stem cells from a common pool amongst the members of the community. The model offers greater and easier access to donor stem cells, unlimited retrievals at the cost of one enrolment, and a higher probability for finding a close match for potentially life-saving treatments.

This facility ensures complete protection to the child, siblings, parents, and maternal and paternal grandparents from more than 80 disorders treatable by stem cells.

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Community Cord Blood Banking saves life of child with aplastic anaemia - The Hindu

Arya Lloyd: Father launches global search for blood stem cell donor to save his 12-year-old daughter – Sky News

A surgeon has launched a global search for a blood stem cell donor to save the life of his seriously ill 12-year-old daughter.

Arya Lloyd first complained of stomach pains in May this year, and initially her parents thought they were general growing pains.

But when the pains persisted, Arya was referred to St Mary's Hospital in Paddington, London, and was diagnosed with the blood disorder aplastic anaemia.

Doctors say her best chance of survival is through a blood stem transplant.

Her parents Geraint Lloyd, 45, a consultant general surgeon at the Lister Hospital in Stevenage, and dentist Brundha Lloyd, 47, have been told they would only be a 50% match at best and that Arya needs a 10/10 match.

Ordinarily the best match would be from a sibling, but she is an only child so her best hope now rests with a stranger.

Mr Lloyd, from Cambridge, said: "Our world was turned on its head when we were given Arya's devastating diagnosis.

"It is with us always, and we're doing all we can to provide her with a second chance of life.

"I am a surgeon who has spent half my life looking after people with serious medical problems and cancer, but nothing prepares you for this.

"The world is a very different place now we know Arya is so unwell."

The family is working with international blood cancer charity DKMS in search of a donor.

Arya's mixed heritage - being Indian and Caucasian - makes the search for a donor more challenging.

Mrs Lloyd has family in America and India, and DKMS has branches in both countries, so a global search to find Arya her match is on.

Although the UK has a diverse population, patients from a black, Asian or other minority background have a 20% chance of finding the best possible stem cell donor match, compared to 69% from northern European backgrounds, DKMS said.

Mr Lloyd said: "We're at the mercy of others right now. We need their support."

DKMS has reported a steep decline in new donors coming forward since March due to COVID-19.

EastEnders actor Priya Davdra is working with DKMS to encourage more people, particularly those from Asian communities, to sign up as potential blood stem cell donors.

"It broke my heart when I heard about Arya's situation," she said.

"To think what she and her family must be going through is just so awful."

She has signed up as a potential donor and urged others to do so.

DKMS is seeking potential blood stem cell donors from all backgrounds.

If you are aged between 17 and 55 and in good general health, you can support Arya and the other 2,000 people in need of a lifesaving transplant by registering online at dkms.org.uk/en/arya for a home swab kit

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Arya Lloyd: Father launches global search for blood stem cell donor to save his 12-year-old daughter - Sky News

Blood Cancer: Science Reveal Five Easily Missed Signs of Leukemia – Science Times

Experts diagnose someone with a blood cancerapproximately every three minutes in the United States. Every year, new blood cancer reports account for10 percent of new diagnoses of cancer.

There are typically three separate types of blood cancers, according toExpress.co.uk. These include leukemia, lymphoma, and myeloma. Signs and symptoms vary based on the form of blood cancer an individual has.

Major factors in leukemia survival rates include early diagnosis and management. Read on to find out more about some of the signs of early blood cancer that you can never miss.

(Photo : Dan Kitwood/Getty Images/Cancer Research UK) CAMBRIDGE, UNITED KINGDOM - DECEMBER 09: A fridge of chemical solutions which contain nutrients that are needed to 'feed' cells and keep them alive for laboratory experiments, at the Cancer Research UK Cambridge Institute on December 9, 2014 in Cambridge, England. Cancer Research UK is the world's leading cancer charity dedicated to saving lives through research. Its vision is to bring forward the day when all cancers are cured. They have saved millions of lives by discovering new ways to prevent, diagnose and treat cancer, and as such the survival rate in the UK has doubled in the last 40 years. Cancer Research UK funds over 4,000 scientists, doctors and nurses across the UK, more than 33,000 patients who join clinical trials each year and a further 40,000 volunteers that give their time to support the work.

According toHematology.org, most blood cancers begin in the bone marrow - where blood is made. These cancers disrupt the development and work of your blood. The stem cells transform into three types of blood cells-white, red, or platelets in the bone marrow.

When anyone has blood cancer, and irregular blood cell's development influences the regular output of blood cells. These cancer cells inhibit the regular functions of your blood such as preventing excessive bleeding or combating diseases. There are three major types of tumors in the blood: leukemia, lymphoma, and myeloma.

Leukemia is a disease that induces the massive development of irregular white blood cells in your blood marrow. This stops bacteria from being combated by the body. These cells often hinder platelets and red blood cells from being formed by the bone marrow.

Plasma cell cancer is myeloma. The antibodies in your body are produced by these white blood cells to combat and resist illnesses and diseases. This cancer can disrupt the immune system of your body and render you susceptible to infection.

Lymphoma hinders the lymphatic function that generates immune cells and removes the body from surplus fluids. Abnormal lymphocytes, along with other cells, can accumulate and gather in the lymph nodes. The body's immune system is weakened by these cancerous cells.

Blood cancer signs differ, like leukemia. Here are certain signs of blood cancer that you can look out for. Many of these signs may sound like the flu and maybe simple to ignore.

If the body produces leukemia, blood cells are destroyed by the disease, so it is impossible for your body to produce safe blood cells. You can experience anemia, and light skin is one of the major signs of anemia. Also, your hands can feel cold to the touch.

A typical symptom in certain diseases is exhaustion. You can see the doctor if you feel more worn out than usual and note a drastic difference in your energy.

Your blood cells aid the functioning of the immune system. The body's immune system does not normally work when certain cells are unhealthy, leading you to get sick more frequently. Frequent fevers and pneumonia are some of the most prominent first signs of leukemia.

You can also keep an eye on any shortness of breath if you are feeling energy depleted. You can take care if you feel short of breath any more quickly during physical exercise.

You can bleed more than usual because the body does not produce enough platelets. You might even more often get a bloody nose. Other modifications connected to your blood that you can look out for include:

No one is sure of what induces leukemia or other cancers of the blood, and there is no means of stopping it. Many factors in the environment, including smoking, pollution, and radiation, may lead to this disease's growth. The past of the family may also play a part in your chance of leukemia.

ALSO READ: Coronavirus Survivors Twice as Likely to Develop Mental Disorders - Study

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Blood Cancer: Science Reveal Five Easily Missed Signs of Leukemia - Science Times

Karnataka:Community cord blood banking emerges as lifesaver – United News of India

More News 18 Nov 2020 | 11:29 PM

Hyderabad, Nov 18 (UNI) AICC Spokesperson Dr Sravan Dasoju slams the State Election Commission (SEC) for taking a U-turn on the distribution of flood relief funds to the victims.

Hyderabad, Nov 18 (UNI) A couple who allegedly cheated a bank of Rs 5.3 crore by submitting false documents to get loans, was arrested by the Cyberabad Police on Wednesday.

Hyderabad, Nov 18 (UNI) A 50-year-old woman waiting in queue at a Meeseva centre to apply for Rs 10,000 flood relief from the Telangana Government, collapsed and died at Tolichowki near here on Wednesday even as the stampede-like situation prevailed at Mee Seva centres in Hyderabad and surrounding areas where thousands of persons in queued up for applying to for flood relief.

Kochi, Nov 18 (UNI) Opposition Leader in Kerala Assembly Ramesh Chennithala on Wednesday alleged that the arrest of former PWD Minister VK Ebrahim Kunju was politically-motivated.

Bengaluru, Nov 18(UNI) Karnataka on Wednesday reported 1791 fresh cases of COVID-19 on Wednesday, taking the total number of infections in the state to 865931.

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How CAR-T Cell Therapy is Being Used in the Field of Blood Cancer Treatment – Curetoday.com

Currently only approved for the treatment of B-cell malignancies, CAR-T cell therapy is a relatively new treatment option that researchers are learning more about each day, according to Amelia Langston, MD.

Langston, a professor and Executive Vice Chair of the Department of hematology and medical oncology at the Winship Cancer Institute of Emory University, recently presented a session on CAR-T cell therapy at CURE's Educated Patient Leukemia & Lymphoma Summit, touching on not just how the treatment has evolved, but where it could be going in the near future.

Langston began by defining one of the major problems that researchers are trying to solve by utilizing CAR-T cell therapy: making immunotherapy a reality for more patients with blood cancer. There are a few methods that are currently in use, including allogeneic stem cell transplantation, monoclonal antibody therapy, and checkpoint inhibitors drugs that call upon a number of natural cellular immune responses.

At its core, the main concept of novel therapeutics is to bring the immune cells and the tumor cells together in a way that activates the immune cells to kill those cells that carry a specific target or targets. The goal is to also eliminate some of the complexities of the T-cell immune response and, according to Langston, potentially recruit other immune players into the mix.

The process of CAR-T cell therapy begins with T cells that are collected from a patient, Langston explained, and then manipulated in a laboratory. We then introduce a genetically engineered chimeric antigen receptor (CAR) construct that confers specificity for an antigen on the surface of the tumor cell. And that results in killing of the tumor.

It is worth noting, Langston said, that the manufacturing of these CAR-T cells is not trivial. Once the T cells are extracted, modified, and reproduced in large quantities, the patient then needs to be prepared with what doctors call lymphodepleting chemotherapy. This essentially makes room in the in the patient's immune system for the new T cells to get into the body and expand. After thats done, the T cells are delivered to the patient, where they expand inside the patient and get to work.

The first target that has been successfully applied to CAR-T cell therapy is a molecule called CD19, Langston went on to explain. This is a very attractive target because it corresponds to many of the different B-cell malignancies, with three different options currently approved by the FDA:

While it is an attractive option given its efficacy, CAR-T cell therapy comes with significant and unique toxicities, according to Langston namely, cytokine release syndrome.

The cells divide very rapidly in the patient, and they create a sort of a cytokine storm as a consequence of that rapid division, she said. This so-called cytokine release syndrome is characterized by high fevers, hypotension, diffuse capillary leak and swelling, and is associated with a lot of inflammatory markers. And if this complication is not identified quickly and managed appropriately, this is an absolutely life-threatening complication. The bright spot in this potential side effect is that effective interventions to help manage it do exist, mainly in the form of Actemra (tocilizumab).

Neurologic toxicities can also arise as a result of CAR-T cell therapy, and can also be life-threatening. Patients could have anything from a little bit of trouble with their memory, all the way to seizures and brain swelling and even death, Langston said. However, she did note, this is a reversible complication if it is identified and treated very quickly.

A third issue that can occur is B-cell aplasia, where the manufactured CAR T-cells attack normal B-cells that also express CD19, putting patients at higher risk of developing infections. Like the other toxicities related to CAR-T cell therapy, this condition can be treated as well, with intravenous immunoglobulin replacement therapy.

Citing CAR-T cell therapy success stories like that of Emily Whitehead, Langston concluded with a look at not just how this treatment can be refined and made more effective for patients, but what impact it could have on malignancies outside of the blood cancer space.

I think one of the most important areas (we are looking at) is how do we make the CAR-T cell concept work better? Langston asked. Can we add other immune modulators and stimulants into the mix to try to enhance persistence of those CAR-T cells? What about the fact that we have patients with T-cells that are really pretty beaten up from their prior therapies? Can we rejuvenate their T-cells before they are transduced? Or after transduction for that matter, in order to make the CAR-T cells more robust and more powerful? Can we develop new CAR constructs that will enhance the activity without maximizing toxicity?

When it comes to solid tumors, Langston concluded, her own institution is one of many that is currently investigating the possibilities. We have an ongoing study (at Emory) in lung cancer, we have another study in head neck cancer, and were beginning to get into breast cancer as well, she said.

While its challenging to identify targets in these cancers, Langston said, there is hope. It becomes more challenging when we look at some of the solid cancers, but there's a lot of promising data in early phase studies to suggest that this will be possible in the future.

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Election results for California Propositions 14, 18, 23, and 24 – FOX 11 Los Angeles

LOS ANGELES - Twelve statewide propositions appeared on the California ballot for the November 3 election and voters will decide what becomes law.Those measures cover an array of topics including stem cell research, primary voting for 17-year-olds, kidney dialysis clinics and data privacy rules.

RELATED:Election Results: California Propositions

California voters pass Proposition 14

Proposition 14 would allow California to sell $5.5 billion in general obligationbonds for continued stem cell and medical research. The measure builds on Prop 71 that was enacted by voters in 2004 to support stem cell research and authorized $3 billion in bonds. According to theLeague of Women Voters of California,almost all the funds from the sale of the bonds authorized by Prop 71 have been spent.

California voters rejectProposition 18

Proposition 18 would allow 17-year-olds to vote in primaries and special elections, provided they turn 18 by the November general election. At least 18 states and Washington, D.C., have adopted laws that let people younger than 18 vote in certain circumstances.

Advocates say any chance to get people in the habit of voting should be encouraged. Besides, they say, young people whose birthdays fall between the primary and the general election are at an unfair disadvantage.

The Election Integrity Project California, the main opponent to Proposition 18, says that 17-year-olds are still considered children under the law and have no business deciding elections.

California voters reject Proposition 23

Proposition 23 was placed on the ballot by unions that represent health care workers and has attracted more than $110 million in political spending to persuade voters.

Opponents, financed by dialysis clinic companies, say that under that mandate, between two and three doctors would be required at every facility because most are open at least 16 hours a day, creating a financial burden that could lead some clinics to close.

Proposition 23 is the second attempt by the unions to increase regulation of dialysis clinics in California, where DaVita Inc. and Fresenius Medical Care two of the countrys largest for-profit dialysis providers operate about three-quarters of the states dialysis market.

California voters pass Proposition 24

Proposition 24 would update a 2018 law that gave Californians the right to know what information companies collect about them online, the right to get that data deleted and the right to opt out of the sale of their personal information.

The new measure would triple the fines for companies that violate kids privacy or break laws on the collection and sale of childrens private information. It would create a dedicated state agency to enforce the new law, with an annual budget of $10 million.

It also aims to close some loopholes that proponents say companies like Facebook, Google and Spotify have exploited.

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Election results for California Propositions 14, 18, 23, and 24 - FOX 11 Los Angeles

Cell Separation Beads Market to Witness Robust Expansion Throughout the Forecast Period 2018-2028 – The Daily Philadelphian

With 1000+ market research reports and 1 billion+ data points, Future Market Insights (FMI) serves each and every requirement of the clients operating in the global healthcare, pharmaceuticals, and medical device industries. FMI deploys digital intelligence solutions to offercompelling insights to report buyersthat help them in overcoming market challenges, especially at the time of a crisis. Our dedicated team of professionals performs an extensive survey for gathering accurate information associated with the market.

FMI, in its upcoming business report, elaborates the historical and current scenario of the global Cell Separation Beads market in terms of production, consumption, volume, and value. The report scrutinizes the market into various segments, regions and players on the basis of demand pattern and growth prospects.

Crucial information and forecast statistics covered in the Cell Separation Beads market report will arm both existing and emerging market players with necessary insights to craft long-term strategies as well as maintain business continuity during a crisis such as the ongoing COVID-19 pandemic.

COVID-19 Impact Analysis on Cell Separation Beads Market

The recent outbreak of the COVID-19 has turned the spotlight on the healthcare industry, and subsequently impacted the Cell Separation Beads market. Severe shortages of critical medical supplies and a rapid rise in number of COVID-19 cases have resulted into a revolution rather than evolution in the healthcare ecosystems. Consequently, the impact is noticeable in the Cell Separation Beads market.

Following governments measures, particularly social distancing norms and stay-at-home orders, doctors are delaying or postponing elective surgeries unless critical to prevent the spread of the virus to individuals with comorbidities or chronic conditions. Additionally, movement restrictions and supply chain disruptions have created a logistical nightmare for market players, leading to severe product shortages in the global marketplace.

The FMIs report includes an interesting chapter on preliminary impact of the COVID-19 on the Cell Separation Beads market. This allows both leading and emerging market players to understand the market scenario during a crisis and aids them in making sound decisions to gain a distinct competitive edge.

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Cell Separation Beads Market: Segmentation

Valuable information covered in the FMIs Cell Separation Beads market report has been segregated into key segments and sub-segments.

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Cell Separation Beads Market: Competition Analysis

The FMIs study presents a comprehensive analysis of global, regional, and country-level players active in the Cell Separation Beads market.Competitive information detailed in the Cell Separation Beads market report has been based on innovative product launches, distribution channels, local networks, industrial penetration, production methods, and revenue generation of each market player. Furthermore, growth strategies and mergers & acquisitions (M&A) activities associated with the players are enclosed in the Cell Separation Beads market report.

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Cell Separation Beads Market to Witness Robust Expansion Throughout the Forecast Period 2018-2028 - The Daily Philadelphian

Fight for the rights of unborn – The Daily Telegram

Tuesday Nov10,2020at9:00AM

The Roe v. Wade ruling set America on a destructive path to devaluing life. Death clinics have been set up across this nation to murder children who have no choice. Doctors actually make money practicing this.

Instead of saving lives, as many believe doctors take an oath to do, they are taking life away. The most abhorrent of this practice is partial birth abortion, where a child, moments from taking its first breath, is pulled from the womb feet first and has his/her skull pierced before seeing the light of day. What kind of culture accepts this type of practice?

Some in the medical profession rationalize abortion and embryonic stem cell research as healthy for humanity. Healthy for what kind of humanity? There are those doctors who have found adult stem cell use much more effective and they are less susceptible to disease. Isnt it strange how this research doesnt seem to be able to get much acknowledgment from the "unbiased" national media?

Sarah Palins Downs-Syndrome child could have ended up in some clinics dumpster had she given into the "culture of death." She chose life and with it the rewards of motherhood of a special needs child. The Democratic party promotes the destructive path of devaluing life. (They even cheer with a standing ovation. See New York House Jan. 22, 2020). Do you think the current candidates would choose life had it been found out prior to birth that their child was going to be "defective"?

Yes, this culture can be reversed by continuing to fight (NEVER GIVE UP) and by voting for those that would fight for the "rights" of the unborn!

As to economic ruin on a grand scale, as referred to by some if we continue on the current path: We still live in the most prosperous nation in the world as shown by the amount of people from other nations that still try and get here. When we as a nation put financial prosperity ahead of life, the following verse rings true. "People who want to get rich fall into temptation and a trap and into many foolish and harmful desires that plunge men into ruin and destruction. For the love of money is a root for all sorts of evil."

Steven Wilson

Blissfield

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Fight for the rights of unborn - The Daily Telegram

Genetic Mechanism Identified in Neonatal Diabetes Could Offer Insights into Other Forms of the Disease – Genetic Engineering & Biotechnology News

New insights into the genetic basis of a rare type of diabetes in babies have uncovered a biological pathway that is fundamental to insulin production by pancreatic cells, and which could boost research into new treatments for more common forms of diabetes. An international research team led by scientists at the University of Exeter, the Universit Libre de Bruxelles, and the University of Helsinki, used genome sequencing to reveal that a group of babies with shared clinical features, including the development of diabetes soon after birth, all had genetic changes in the YIPF5 gene, which is involved in cell trafficking from the endoplasmic reticulum (ER) to the Golgi. The team then combined stem cell research and CRISPR gene editing to show that this gene is essential for the function of the cells that produce insulin.

The research demonstrated how the genetic changes result in high levels of stress within the cells, causing cell death, and also showed, for the first time, that YIPF5 gene function is essential for neurons and insulin-producing cells, but appears to be dispensable for the function of other cells.

Co-study lead, Elisa De Franco, PhD, from the University of Exeter, said, This study highlights the importance of gene discovery to further our understanding of fundamental mechanisms in biology. In this case, our research has resulted in the identification of a gene essential for both insulin-producing cells and neurons, highlighting a biological pathway we previously did not know was so fundamental for insulin-producing cells. This has the potential to open new avenues of research and ultimately result in a better understanding of how other types of diabetes develop.

De Franco and colleagues reported on their findings in the Journal of Clinical Investigation (JCI), in a paper titled, YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress.

Neonatal diabetes develops before the age of six months, and is caused by reduced numbers of insulin-producing pancreatic cells, or impaired cell function, the authors explained. Previous research has found that neonatal diabetes is most likely caused by a mutation in a single gene, rather than presenting as an autoimmune type 1 form of the disease. To date, 30 genetic causes have been described, which account for 82% of cases, the team noted. Many patients with neonatal diabetes also have neurological symptoms, which is not surprising, the researchers continued, as cells and neurons have many genes and cellular functions in common. Pathogenic variants in 11 genes are already known to cause neonatal diabetes with neurological features, and one of the pathways known to be crucial for the function of both cells and brain cells is the endoplasmic reticulum stress response. In fact, Pathogenic variants in eight genes known to be involved in regulating the ER stress response have been found to caused diabetes (ranging from neonatal to adolescent/adult-onset diabetes), often associated with neurological features, the scientists pointed out.

To further study which genes are key to the function of insulin-producing cells, in the context of neonatal diabetes, the research team studied the genetics of almost 190 patients from all over the world who developed diabetes soon after birth. Identifying the genes causing syndromic forms of neonatal diabetes that include neurological features can highlight pathways important for development and function of -cells and neurons, giving insights into the pathogenesis of more common diseases, they noted. The results identified six babies who had neonatal diabetes and other very similar clinical featuresincluding epilepsy and microcephalyand who all exhibited mutations in the YIPF5 gene.

Researchers at the Universit Libre de Bruxelles and the University of Helsinki then carried out a series of studies in insulin-producing cells and in stem cells to try to understand the function of YIPF5 in the insulin-producing cells. We used three human cell models (YIPF5 silencing in EndoC-H1 cells, YIPF5 knockout and mutation knockin in embryonic stem cells, and patient-derived induced pluripotent stem cells) to investigate the mechanism through which YIPF5 loss of function affects cells, the investigators explained. Their results showed that when the gene was lacking, or had the same mutations as those found in the neonatal diabetes patients, the insulin-producing cells couldnt function normally to produce enough insulin. And an attempt to cope with this malfunction the cells activated stress mechanisms, which ultimately resulted in cell death. YIPF5 deficiency reduces -cell survival by enhancing the ER stress response and sensitizing human -cells to ER stress-induced apoptosis, they commented.

Co-senior study author Timo Otonkoski, from the University of Helsinki, explained, Using the CRISPR gene scissor DNA-editing technology we could correct the patient mutation in stem cells in order to fully understand its effects. The combination of gene editing with stem cells provides powerful new tools for the study of disease mechanisms. Colleague and co-senior author, Miriam Cnop, PhD, from the Universit Libre de Bruxelles, continued, The possibility to generate insulin-producing cells from stem cells has given us the possibility to study what goes wrong in cells from patients with this rare form and also other types of diabetes. It is an extraordinary disease-in-a-dish model to study mechanisms of disease and test treatments.

The teams study results offer new insights into which cellular steps are important for making insulin, and for maintaining the function of insulin-producing cells in the pancreas. This insight could help researchers develop better therapies to treat patients with common types of diabetes that affect 460 million people worldwide.

To the best of our knowledge, this is the first report of mutations in a gene affecting ER-to-Golgi trafficking resulting in diabetes by increasing -cell ER stress, uncovering a critical role of YIPF5 in the human -cell, the authors reported. Our findings highlight a biological pathway essential for -cells.

We are very grateful to the patients, their families, and their doctors for their participation in the study, noted Andrew Hattersley, PhD, one of the senior authors of the study, from the University of Exeter. Without them, we could not have accomplished this. It is our wish that further research will benefit the patients, to facilitate diagnosis and treatment of their diabetes.

Anna Morris, assistant director of research strategy and partnerships at Diabetes UK, which provided funding for the studies, said, These findings provide important new information on how beta cells in the body manufacture insulin and what happens when this process goes wrong. Understanding more about how rarer forms of diabetes develop brings us closer to discovering new ways to cure and prevent all forms of the condition. This is a key part of Diabetes UKs new strategy, and we are proud to have funded De Francos vital research.

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Genetic Mechanism Identified in Neonatal Diabetes Could Offer Insights into Other Forms of the Disease - Genetic Engineering & Biotechnology News