Category Archives: Molecular Genetics

A comprehensive Global Point of Care Molecular Diagnostics Market analysis report serves to be an ideal solution for better understanding of the market and high business growth. It has become the requisite of this rapidly changing market place to take up such marker report that makes aware about the market conditions around. This market report comprises of an array of factors that have an influence on the market and industry which are industry insight and critical success factors (CSFs), market segmentation and value chain analysis, industry dynamics, drivers, restraints, key opportunities, technology and application outlook, country-level and regional analysis, competitive landscape, company market share analysis and key company profiles.

Market Analysis:

The Global Point of Care Molecular Diagnostics Market is estimated to rise from the value of USD 627.6 million in 2017 to an estimated value of USD 1933.2 million by 2025, registering a CAGR of 15.1% during the forecast period of 2018-2025. This growth can be attributed to the rising cases of infectious diseases, and the growing demand for approved Point of Care Molecular Diagnostic tests.

Key Market Competitors: Few of the major competitors currently working on the Point of Care Molecular Diagnostics Market are Agilent Technologies Inc., Abbott, F. Hoffmann-La Roche Ltd., Illumina Inc., Hologic Inc., QIAGEN, Myriad Genetics, Cepheid, Genomic Health, GenePOC Inc., DxNA LLC., Binx Health Inc., Spartan Bioscience Inc., Biocartis, Beckman Coulter Inc., Johnson & Johnson Services Inc., Medtronic, Siemens Healthcare GmbH, Grifols S.A., Abaxis, Bayer AG, bioMrieux SA, Bio-Rad Laboratories Inc., Danaher, OraSure Technologies Inc., BD, Sysmex Corporation, Quidel Corporation, and Meridian Bioscience Inc.

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Global Point of Care Molecular Diagnostics Market,By Product (Assays & Kits, Instruments/Analyzers, Services & Software), Application (Respiratory Diseases, Sexually Transmitted Diseases, Hospital-acquired Infection, Oncology, Hepatitis, Others), Technology (Polymerase Chain Reaction, In-Situ Hybridization, Chips and Microarrays, Mass Spectrometry, Sequencing, Isothermal Amplification, Others), End-User (Physician Offices, Hospitals, Research Institutes, Others), Geography (North America, South America, Europe, Asia-Pacific, Middle East & Africa) Industry Trends & Forecast to 2025

Competitive Analysis:

The Global Point of Care Molecular Diagnostics Market is highly fragmented and the major players have used various strategies such as new product launches, expansions, agreements, joint ventures, partnerships, acquisitions, and others to increase their footprints in this market. The report includes market shares of Point of Care Molecular Diagnostics market for global, Europe, North America, Asia Pacific, South America and Middle East & Africa.

Market Definition:Global Point of Care Molecular Diagnostics Market

Point of Care Molecular Diagnostics is diagnostic equipment which is used to determine the cause of infectious disease causing agents. These machines/equipments help determine the accurate cause of these diseases in a timely manner, which is of utmost importance when dealing with these kind of diseases and also to implement the correct course of action.

The advancements and developments in the diagnostics market is attributed to the fact that the healthcare industry is focusing on detection and diagnosis in place of pharmaceuticals and medicines, to prevent the development of the diseases. This trend has directly affected the market growth and is helping the market to grow significantly.

North America had the highest revenue share of around 40% of the market.

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Market Drivers:

Market Restraints:

Segmentation:Global Point of Care Molecular Diagnostics Market

Key Developments in the Market:Global Point of Care Molecular Diagnostics Market

Key Insights in the report:

Market Segmentation:-

To comprehend Global Point of Care Molecular Diagnostics market dynamics in the world mainly, the worldwide Point of Care Molecular Diagnostics market is analyzed across major global regions.

Actual Numbers & In-Depth Analysis, Business opportunities, Market Size Estimation Available in Full Report.

Some of the Major Highlights of TOC covers:

Chapter 1: Methodology & Scope

Definition and forecast parameters

Methodology and forecast parameters

Data Sources

Chapter 2: Executive Summary

Business trends

Regional trends

Product trends

End-use trends

Chapter 3: Industry Insights

Industry segmentation

Industry landscape

Vendor matrix

Technological and innovation landscape

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Point of Care Molecular Diagnostics Market report effectively provides required features of the global market for the population and for the business looking people for mergers & acquisitions, making investments, new vendors or concerned in searching for the appreciated global market research facilities. It offers sample on the size, offer, and development rate of the market. The Point of Care Molecular Diagnostics report provides the complete structure and fundamental overview of the industry market.

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Global Point of Care Molecular Diagnostics Market Expectation Surges With Rising Demand And Changing Trends Agilent Technologies Inc., Abbott, F....

New research is shedding light on why people age differently, and how one day humans can have an impact on their own aging through medication and lifestyle changes.

A study from the Stanford University School of Medicinepublished in Nature Medicine has identified at least four different ways in which people age at the molecular level.

Scientists found biological pathways they call ageotypes, that influence the way people grow older. These include metabolic, immune, liver and kidney but there could be others.

The study claims metabolic agers may be at a higher risk for type 2 diabetes as they grow older, while immune agers may be more at risk for immune-related disease. Liver and kidney ageotypes may be more likely to develop liver or kidney diseases.

We know already there are a handful of nice molecular and clinical markers, such as high cholesterol, that are more common in older populations, Stanford genetics professor Michael Snyder said in a statement.But we want to know more about aging than what can be learned from population averages. What happens to an individual as they age? No one has ever looked at the same person in detail over time.

Researchers tracked 43 men and women between the ages of 34 and 68 for two years. They measured the participants biological markers to identify molecular changes, and were able to identify different types of aging. They also found that people can age at different rates.

People are aging at different rates, but whats equally or even more important is where you see theyre aging differently, Snyder said.

Some participants in the study fit several ageotypes, and some were aging in all four categories.

Researchers found some participants were able to slow down their rate of aging during the two-year period by losing weight or eating a healthier diet. Snyder said more research is necessary, but the study shows its possible to change the way you age for the better.

Researchers said understanding what form of aging we are predisposed to enables us to come up with a strategy to prevent specific health problems and possibly slow down the aging process.

Dr James Kirkland, a gerontologist and head of the Kogod Center on Aging at the Mayo Clinic in Rochester, Minn., told NBC News there are drugs and dietary interventions that may make it possible to modulate aging processes.

But in order to apply these correctly, we have to know which people to apply which drugs or which dietary interventions in order to get the most bang for the buck, Kirkland told NBC.

Link:
Researchers find there are four ways that humans age--and that the process can be slowed down - The Hill

Xinxing Pan, Juan Xu, Xuemei Jia

Department of Gynecology, Womens Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, Jiangsu Province, Peoples Republic of China

Correspondence: Xuemei JiaDepartment of Gynecology, Womens Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, 123 Tianfeixiang, Mochou Road, Nanjing 210004, Jiangsu Province, Peoples Republic of ChinaTel/Fax +86-25-84460507Email xmjia@njmu.edu.cn

Abstract: Malignant tumors cause a high mortality rate worldwide, and they severely threaten human health and negatively affect the economy. Despite the advancements in tumor-related molecular genetics and effective new processes in anti-tumor drug development, the anti-tumor drugs currently used in clinical practice are inadequate due to their poor efficacy or severe side effects. Therefore, developing new safe and efficient drugs is a top priority for curing cancer. The peptide has become a suitable agent due to its exact molecular weight between whole protein and small molecule, and it has high targeting ability, high penetrability, low immunogenicity, and is convenient to synthesize and easy to modify. Because of these advantages, peptides have excellent prospect for application as anti-tumor agents. This article reviews the recent research progress evaluating anti-tumor peptides and their anti-tumor mechanisms, and may act as a reference for the future development and clinical application of anti-tumor peptides.

Keywords: anti-cancer, small biomolecule, medicine, drug development

This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution - Non Commercial (unported, v3.0) License.By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms.

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Research Progress Evaluating the Function and Mechanism of Anti-Tumor | CMAR - Dove Medical Press

Just over a week ago, 13-year-old Ryan Pourjam's father, Mansour Pourjam, died in a plane crash after Iran's government shot down the jet just outside Tehran. All 176 passengers were killed.

Iran initially blamed the Jan. 8 crash on engine failure but later admitted it was shot down in a "human error" amid heightened tensions with the US military.

On Wednesday, Ryan gave an emotional speech at a memorial service at Carleton University. His father earned his degree in biology there in 2001 and went on to become a dental technician in Ottawa, according to the Ottawa Citizen.

Ryan said his dad was an incredibly positive person who would have wanted his loved ones to remain optimistic through such a painful time.

"Hed always tell me to stay positive through the dark times and through the good, when we'd get stuck in traffic or when I couldn't get the coffee that I wanted," he said.

"I dont want to talk about the bad things," he continued. "Because I know that if my dad was alive and if someone else died in the crash and that he was right here giving a speech, he wouldn't talk about the bad stuff. I wont."

Ryan said he would describe his dad in one word as "strong."

"Hes been through tragedy after tragedy, wall after wall, wrong turn after wrong turn, and he stood strong," he said. "He was amazing, and we loved each other."

More than 200 people came to the Wednesday vigil, which was held jointly for Mansour Pourjam and another victim, Fareed Arasteh. Arasteh was a PhD student studying molecular genetics at the university, according to CBC.

Ryan said he was comforted by how many people came together to "celebrate Mansour and Fareeds amazing lives."

"I stand up here a week after this horrible tragedy, and I still cant believe it," Ryan said. "I feel like Im dreaming."

"But I know that if I was dreaming, and that if he woke me up, he'd tell me that it's going to be OK," he said. "And it will be."

Link:
A 13-Year-Old Gave An Emotional Speech About His Dad Who Died In The Iran Plane Crash - BuzzFeed News

By Caitlin O'Hara for UCSB Arts & Lectures | January 15, 2020 | 9:00 a.m.

UCSB Arts & Lectures and the Cancer Foundation of Santa Barbara co-present Understanding Genetics and Cancer, a free community event featuring Mary-Claire King, the scientist who discovered the BRCA1 gene,7:30 p.m. Thurs., Feb. 6, at UCSB Campbell Hall.

King's lecture will be followed by a panel of experts discussing genetics, cancer and you, providing resources and answering pertinent questions

UCSB Arts & Lectures and the Santa Barbara Cancer Foundation will present a free community event Understanding Genetics and Cancer, featuring a lecture by human geneticist Mary-Claire King, the scientist who discovered the BRCA1 gene.

Her talk, at 7:30 p.m. Thursday, Feb. 6, at UCSB Campbell Hall, will be followed by a panel of experts discussing genetics, cancer and you.

King discovered the genetic mutation responsible for breast cancer, a finding that has revolutionized the course of cancer research and transformed the way patients are diagnosed and treated.

A recipient of the National Medal of Science for her bold, imaginative and diverse contributions to medical science and human rights, Dr. King will discuss the genetics of inherited cancers.

Following the talk, a panel of experts will address genetics, cancer and you, including the following topics:

Lifestyle and cancer risk reductionFamily history and ethnicity risk factorsGenetic testing as cancer preventionPrivacy of genetic testing resultsBenefits and perils of ancestry testingLocal resources for cancer risk assessment and counseling

King is American Cancer Society professor in the Department of Medicine and the Department of Genome Sciences at the University of Washington in Seattle. She was the first to show that breast cancer is inherited in some families, as the result of mutations in the gene that she named BRCA1.

In addition to inherited breast and ovarian cancer, her research interests include the genetic bases of schizophrenia, the genetic causes of congenital disorders in children, and human genetic diversity and evolution.

King pioneered the use of DNA sequencing for human rights investigations, developing the approach of sequencing mitochondrial DNA preserved in human remains, then applying this method to the identification of kidnapped children in Argentina and subsequently to cases of human rights violations on six continents.

King grew up in Chicago. She received her bachelor's degree cum laude in mathematics from Carleton College in Northfield, Minn.; her doctorate in genetics from the University of California at Berkeley; and her postdoctoral training at UC San Francisco.

Her Ph.D. dissertation with Allan Wilson was the demonstration that protein-coding sequences of humans and chimpanzees are 99 percent identical. She was professor at UC Berkeley from 1976-95 and at the University of Washington in Seattle since 1995.

King has served on multiple councils and study sections of the N.I.H. and the U.S. National Academy of Sciences. She was consultant to the Commission on the Disappearance of Persons of the Republic of Argentina and carried out DNA identifications for the United Nations War Crimes Tribunals.

She is past president of the American Society of Human Genetics and a past member of the Council of the National Academy of Sciences. King has been elected to the American Academy of Arts and Sciences, the National Academy of Medicine, American Philosophical Society, and as a foreign member of the French Academy of Sciences.

Understanding Genetics and Cancer is co-presented by UCSB Arts & Lectures and the Cancer Foundation of Santa Barbara in association with Breast Cancer Resource Center, Ridley-Tree Cancer Center at Sansum Clinic, Santa Barbara Neighborhood Clinics and UCSB Department of Molecular, Cellular and Developmental Biology.

Sponsored by the Cancer Foundation of Santa Barbara, supporter of the Ridley-Tree Cancer Center and its Genetic Counseling Program.

For more, call UCSB Arts & Lectures, 805-893-3535 or visit http://www.ArtsAndLectures.UCSB.edu.

UCSB Arts & Lectures acknowledges Community Partners the Natalie Orfalea Foundation & Lou Buglioli and Corporate Season Sponsor SAGE Publishing for their support of the 2019-20 season.

Caitlin O'Hara for UCSB Arts & Lectures.

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Scientist Who Discovered BRCA1 Gene to Give Free Talk on Cancer And Genetics - Noozhawk

Jacob ThimjonCONTRIBUTOR

A campfire sits next to a building painted with a light-blue exterior with red, purple and yellow paper lanterns hanging in the windows in Lavavolu, Madagascar. Children gather around the campfire for the inauguration of their new school, a gift from the other side of the world in Omaha, Nebraska.

Lavavolo is a village in southwestern Madagascar home to one of the few remaining endangered greater bamboo lemurs and radiated tortoises.

Poor economic conditions in Lavavolo prompt many people to resort to illegal pet trade to provide for their families.

Its all about survival in Madagascar, said Susie Louis, Conservation Fusion founder.

Conservation Fusion is a nonprofit organization engaged in discovering new species, promoting biodiversity in Madagascar and educating children through Conservation Fusions Dream Schools.

I love Madagascar. Its like a Dr. Seuss land, Louis said.

Louis, a UNO graduate, worked as a zookeeper and in the molecular genetics lab at the Center for Conservation and Research at Omahas Henry Doorly Zoo and Aquarium. Louis now works at the Conservation Fusion offices full-time in Bellevue, Nebraska.

Louis said she visits Lavavolo three times a year to meet with the community about the needs for the village.

Feedback from the community to have a bigger school for students, Louis said, prompted her and Conservation Fusion to build Dream School 2.0.

To build the second dream school, however, Louis needed to raise $14,000.

UNO instructor Herb Thompson was Louiss speech coach for a TEDx talk at UNO in 2017. Thompson additionally worked with Louis on other presentations to prepare Louis for leadership sessions she presents to teachers in Madagascar.

A natural partnership developed, Thompson said. You dont always find people as gifted as she is doing so much good.

Thompsons Small Group Communications class worked with Louis and Conservation Fusion in the summer of 2019 to help raise money to build the new Dream School.

I thought it was just going to be a regular class, said UNO student Armando Rodriguez.

The class was split into two teams, Thompson said: the Omaha Events team and the Madagascar supplies team.

The supplies team made tortoise helmets, lemur masks, a mural of Madagascar and sent hygiene kits of toothbrushes and toothpaste for students. The events team promoted Conservation Fusions Shine Gala, Brew for 2.0 fundraiser, and the Dream School 2.0 through social media and television news packages.

Thats what it takes sometimesgiving something everything you got in order for the completion of a goal, Rodriguez said.

Each event included live and silent auctions for people to bid on books, T-shirts, handcrafted baskets, raffia animals and silk scarves. Donors also had the opportunity to have their names engraved in the new Dream School. The events combined raised over $14,000.

Knowing what we have here in Omaha and here at UNO is a lot more than what those kids have, Rodriguez said. It just gets a little soft spot in you knowing that youre helping kids.

Conservation Fusion hosts events in Omaha throughout the year, which UNO students can attend or assist by volunteering. Conservation Fusion additionally participates in UNOs Seven Days of Service, where students can make educational arts and crafts for children to use in classrooms in the Dream Schools.

For more information on Conservation Fusion, follow the organization on Facebook, Twitter and Instagram or visit its website at http://www.conservationfusion.org.

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UNO partners with Conservation Fusion in biodiversity education goals - The Gateway

MansourPourjam's son Ryan says his father always strived to be positive.

"I can't remember a single moment in my life where Mansour, my dad, had any trace of negativity in his voice or actions," the 13-year-old boy told a crowd of mourners Wednesday at Carleton University.

"He'd always tell me to stay positive, through the dark times and through the good, when we'd get stuck in traffic or when I couldn't get the coffee that I wanted."

More than200 people came out on Wednesday toa vigil at the university to remember bothPourjam, an Ottawa dental technician who graduated from the school,and PhD student Fareed Arasteh both victims in last week's crashof Ukraine International Airlines Flight PS752 outside Tehran.

Iran's Revolutionary Guard shot down the aircraft on Jan. 8,killingall 176 passengers and crew members including 57 Canadian citizens.

Mansour Pourjam had been working at the Ottawa Denture andImplant Centrein Bells Corners at the time of his death.

"If I could describe [my father] in one word, it would be strong. He's been through tragedy after tragedy, wall after wall, wrong turn after wrong turn and he's stood strong," his son said, as people in the audience wiped their eyes.

"He was amazing. We loved each other."

Arasteh, meanwhile, was performingPhDresearch atthe university's biology department, where he was studying molecular genetics. He'dreturned to Iran for the holidays to marry his long-time girlfriend.

His close friend and roommate Reza Sananfartold the crowd Arastehwas a "dreamer" who worked hard to achieve his goals and would also help his friends fulfil their own dreams.

"Although Fareed didn't get to spend much time here at Carleton, I can see that he touched so many lives while he was walking among us here," Sananfar said.

"I thought talking about him would help me to accept the fact that he is not coming back. But there are no words that can ease the pain, or fill the void that many of us are feeling inside us."

Carleton University president Benoit-Antoine Bacon saidit was important to have this gathering to help the community grieve and begin to heal.

Universities across the country paused to honourthe victims Wednesday,as many of the passengers on the flightwerestudents, faculty members and researchers.

The University of Ottawa has said that threeof the victims were students there, while Queen's University has confirmed one of its undergraduate students died in the crash.

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Son of Iran crash victim says father 'stood strong' - CBC.ca

The University of Toronto's St. George campus. The university said in its official response to the task force report that it will accept all the recommendations.

JENNIFER ROBERTS/The Globe and Mail

An internal task force has recommended sweeping changes to the way the University of Toronto handles mental health on its three campuses, including easier, one-stop access points for students, better triaging and a mobile, after-hours mental health response team.

In addition, the task force recommended improved training for staff and campus police, in particular to stop incidents where students seeking help have been handcuffed on the way to hospital.

The report focuses on system-wide recommendations and early intervention strategies. It does not delve into the causes and responses to a series of suicides on the campus. The only reference the report makes to suicide beyond a paragraph on statistics that identifies suicide as the leading cause of death among Canadians aged 15 to 24 is a recommendation that the university develop a transparent protocol for sharing information about suicides when they occur.

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The task force report follows months of protests by students about the way the university handles suicides and mental health issues. Students raised the issue of long wait times for counselling, as well as their frustration with a lack of communication in the aftermath of a suicide.

The university said in its official response to the report that it will accept all the recommendations, including releasing information about the process following a suicide shortly." In an interview, University Provost Cheryl Regehr said the protocol would not differ from previous practice given the school has to respect the privacy of the student, a grieving family and share information in a way that conveys caring but doesnt create contagion.

To begin implementing recommendations, the university announced a new partnership with Torontos Centre for Addictions and Mental Health, including expert guidance on redesigning services and standardizing mental health training on campus.

Students interviewed on campus Wednesday said they were optimistic about the recommendations, particularly those that addressed wait times for counselling.

If you ask for an appointment, you might not get one for months, said Zara Ahmad, a neuroscience student and founder of the campus group StrengthIN, which hosts free workshops on coping skills and academic stress.

Others said the university has taken too long to act.

I dont think enough people are giving [the school] credit for what theyre trying to do, but its shocking and disgusting that its taken this much time to do it, said Anson Sathaseevan, a masters student in molecular genetics. If theres a student suicide, I dont want to pretend like it didnt happen.

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The task force began consultations last July, but its work took on further urgency in September, 2019, when a student died from suicide in the Bahen Centre for Information Technology on the universitys St. George campus. It was the third suicide in 18 months at that location, and the university faced criticism for not installing barriers on upper, open spaces in the building. (The University installed temporary barriers in October.) Students staged a sit-in to protest long wait times, limited mental health resources and what they saw as the university moving too slowly to address a life or death issue.

The task force was composed of a small team of students and faculty, and chaired by the universitys Dean of Medicine. Its findings are based on student and staff consultations, as well as an online survey and on-site interviews with the staff at mental health locations.

In its response, the university announced a multimillion-dollar renovation to the health services facilities in the Koffler House on the St. George campus, the universitys main student centre. Prof. Regehr said the university will also continue funding a program that pays for renovations and upgrades to unused and unattractive locations of the campus.

A key recommendation by the task force is to improve stepped-care treatment for students an evidence-based practice in which students with milder symptoms are directed to services such as online resources, while those with more severe conditions get more intensive care.

The task force noted that counselling appointments have increased by nearly 30 per cent in the last six years, but suggested that simply hiring more staff would not resolve backlogs, without also creating a more centralized system.

While university counsellors are seeing more complex cases, the report said, most students seeking support are reaching out for early intervention to deal with stress and life issues. These students should have easier access to wellness programs, peer support and skills-building workshops. The task force report also noted that mental illness is still perceived as a weakness, something you do not speak about, and a barrier to success at the university and proposed more work to reduce stigma.

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These are really complex issues, and universities cant address them on their own, said Prof. Regehr, of the formalized partnership with CAMH. She said the university will bring together experts from different faculties and CAMH to work specifically on solutions to youth mental health.

The universitys response noted that some of the task forces recommendations have already been implemented including a pilot project for a sick note policy that doesnt require a doctors sign-off, and drop-in counselling during exam periods in 2019.

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Internal task force report recommends sweeping changes to the way U of T handles mental health on campus - The Globe and Mail

11-year-old Bertrand Might (center) surrounded by his family, including his father, Matt Might (second from right), and his mother, Cristina Might (second from left). Credit: The Might family

Scientists at Sanford Burnham Prebys Medical Discovery Institute have shown that cells from children with NGLY1 deficiency a rare disorder first described in 2012 lack sufficient water channel proteins called aquaporins. The discovery was published in Cell Reports and may help explain the disorders wide-ranging symptoms including the inability to produce tears, seizures and developmental delays and opens new avenues to find therapies to treat the disorder.

Our findings uncover a new and completely unexpected job for NGLY1, which was originally thought to only cleave sugars from proteins, says Hudson Freeze, Ph.D., director, and professor of the Human Genetics Program at Sanford Burnham Prebys and senior author of the study. This new information, which includes the molecular signals NGLY1 uses to drive aquaporin production, fundamentally shifts how we approach drug development. Most immediately, we can begin to screen for existing FDA-approved drugs that may increase aquaporin levels.

Burst cells are shown in orange, and intact cells are shown in blue (the dye used stains the DNA in a nucleus). Unlike normal cells (left), cells missing the NGLY1 protein (right) refused to split open when placed in distilled water. The cells pictured are from mice. Credit: Sanford Burnham Prebys

The first patient with NGLY1 deficiency, then-four-year-old Bertrand Might, was diagnosed in 2012. The condition occurs when both copies of the NGLY1 gene contain mutations. As a result, children with NGLY1 deficiency produce little or no N-glycanase1 a protein that removes sugars from proteins during the cells regular recycling process. Today, approximately 60 people in the world have been identified with NGLY1 deficiency. There is no cure, and existing treatments only address a few of the disorders symptoms.

This discovery is a giant leap forward in our understanding of NGLY1 deficiency and our ability to find a drug for the condition, says Matt Might, Ph.D., Bertrand Mights father and chief scientific officer of NGLY1.org, which funded the research. In addition to exploring new treatment avenues, we can immediately start to test currently available drugs to see if they may help Bertrand and other children living with NGLY1 deficiency.

Because of NGLY1s established role in helping recycle proteins, scientists predicted that cells that lack NGLY1 would fill with unrecycled proteins. However, despite numerous experiments by Freeze and others, this has not been observed.

Hudson Freeze, Ph.D., director and professor of the Human Genetics Program at Sanford Burnham Prebys and senior author of the study. Credit: Sanford Burnham Prebys

Mitali Tambe, Ph.D., a postdoctoral associate in the Freeze lab and the first author of the study, set out to shed light on this mystery when she made an unexpected discovery. While normal cells burst open when placed in distilled water, cells from children with an NGLY1 mutation refused to pop open.

At first I thought what every scientist initially thinks: I made a mistake, says Tambe. But this observation actually revealed a previously unknown role for NGLY1 protein.

The unexpected finding prompted the scientists to dig in deeper. In addition to studying skin cells from three children with NGLY1 deficiency, the researchers created human and obtained mouse cells that either lacked NGLY1 or produced excess amounts of the protein. In these studies, they found that cells that lacked the NGLY1 protein had fewer aquaporins proteins that connect the inside and outside of a cell and control water movement and were resistant to bursting open when placed in water. These results were reversed in cells that were given excess levels of NGLY1. The researchers also identified the molecular signals NGLY1 uses to instruct cells to produce aquaporins, proteins called Atf1 and Creb1, which may lead to useful drug targets.

In addition to regulating tear and saliva production, aquaporins are involved in many brain functions, such as cerebrospinal fluid production, explains Tambe. Lack of aquaporins may explain many of the symptoms seen in children who are NGLY1-deficient.

The scientists devised a clever experiment to determine if NGLY1 is regulating aquaporin levels through its expected sugar-removal function or in another manner. They created two cell types that either produced a normal NGLY1 protein or NGLY1 with the sugar-cleaving area disabled. The altered protein successfully altered aquaporin levels indicating that NGLY1 has a second function in addition to its sugar-removing (enzymatic) activities.

Our study shows there is more to NGLY1 than its well-known function of removing sugars from proteins, says Freeze. Together, our findings open important new paths to understanding the pathogenesis of NGLY1 deficiency and ultimately finding treatments.

Reference: N-Glycanase 1 Transcriptionally Regulates Aquaporins Independent of Its Enzymatic Activity by Mitali A. Tambe, Bobby G. Ng and Hudson H. Freeze, 24 December 2019, Cell Reports.DOI: 10.1016/j.celrep.2019.11.097

Research reported in this article was supported by the Bertrand Might Research Fund and NGLY1.org. Additional study authors include Bobby Ng.

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11 Year-Old Bertrand Might Cant Cry Scientists Have Now Discovered Why - SciTechDaily

On a cloudy Sunday in Tehran, Fareed Arasteh married the love of his life, hoping she would join him in Ottawa before he finished his doctorate program at Carleton.

Anxious, as he packed his bags before his flight back to Iran, Arasteh asked his fiance Maral Gorginpours cousin Golnaz Shaverdi for help. Shaverdi, an engineer who lives a couple hours away in Montreal, was a welcome distraction for Arasteha bundle of nerves before his big day, she said. Together, they found the perfect suit for his perfect wedding.

Arasteh would never return back to Ottawa.

Three days after his wedding, the biology student was among 176 passengers and crew members57 of them Canadian citizens and 138 headed to Canadaon board Ukrainian flight PS752 en route to Kyiv on Jan. 8.

All 176 of them were killed shortly after take-off from Tehran. At the age of 32, Arasteh was one of them.

But hes not here anymore. Now Im just trying to put myself back together again.

Samanfar and Arasteh became fast pals after mutual friends introduced the two in Tehran. A few years later, they reconnected when Arasteh joined Carleton in August last fall.

It was like the ideal situation, said Samanfar, who also studied at Carleton. We were fulfilling our dreams by working hard, and living with a friend comfortably.

Arasteh excitedly spoke with Samanfar after his wedding, sending him pictures, and letting him know hed be home on Wednesday.

On Tuesday night, Samanfar was about to go to bed when he texted Arasteh to let him know he arrived in Kyiv. He thought hed pick his friend up from the airport the next day.

His friend never texted back.

Those hours were the hardest, said Samanfar. When I saw the news, my heart sank. I didnt want to believe it, even though I knew at the back of my mind that Fareed was on that plane.

I kept refreshing pages. Finally, his name showed up.

Arastehs friends and family remember him as a soft-spoken, genuinely kind, and thoughtful person with a generous soul. He maintained long, beautiful friendships, taking good care of everyone around him and always checking up on them, they said.

In interviews with the Charlatan, several of those closest to Arasteh broke down in tears recalling memories they shared.

I dont know what Im supposed to do anymore. I dont know what to say to anyone, said Arastehs wife Gorginpour, mewling in a brief conversation over the phone. We had such big dreams and aspirations. Its hard to even talk about any of it without crying like this.

I just want people to know how great my Fareed is.

Salman Soltanian cant quite put a finger to what country song Arasteh and him listened to most back in Tehran. There were so, so many of them, he said, cracking a small smile through his tears.

He loved photography and Shania Twain, said Azad Heidari, Arastehs friend from the University of Tehran.

Kiarash Pedram and Jaber Rahimi were right next to Arasteh when he found out he was accepted into the competitive molecular genetics doctorate program at Carleton. It was so exciting and so happy to watch him, said Pedram.

Biology professor Ashkan Golshani, who was supervising Arastehs PhD, said he expected big things from his star student who always asked deep questions.

Arasteh joined Carletons molecular genetics lab after finishing a masters degree in biotechnology from Iran. His researchidentifying and characterizing genes that affect quality control of the gene expressionwas a large part of a $200,000-funded project, working towards a cure for cancer.

He didnt just do fantastic work himself, he helped others around him, helping them work hard as well, said Golshani.

Arasteh hoped to graduate in 2023.

A vigil in his honour will be held in the Tory foyer Wednesday, Jan. 15 from 2 to 3 p.m. Condolence books will be available for members of the community to sign.

Iran had denied its involvement in the crash for several days before admitting it unintentionally shot down the Ukrainian airliner on Jan. 11 by human error, following weeks of tensions with the U.S.

Prime Minister Justin Trudeau has called for financial compensation for the victims families and a thorough investigation. We need to make sure those in mourning get the justice they deserve, he said at the University of Alberta, one of multiple vigils held across Canada since the crash.

Featured image provided by Fareed Arastehs family.

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'Big dreams and aspirations': Mourning family, friends remember Carleton student Fareed Arasteh killed in Tehran - The Charlatan