Genetics

What Can Genetics Tell Us About the Molecular Features of a Bladder Cancer Tumor? – SurvivorNet

Genetic Testing and Bladder Cancer

Genes are the basic units of inheritance in all living organisms. They provide cells with the necessary information for normal functioning, but they can be altered by the same environmental factors that cause cancer to develop.

Genetic testing helps identify specific genes that have mutated or been altered in a way that causes normal cells to become cancerous. These results are used by healthcare providers to predict responses to various types of treatment and monitor the progress of the disease. Genetic testing can refer to both germline testing (mutations in cells without cancer ) and also somatic testing of a patients tumor (mutations in cells with cancer).

Genetic testing is one of the most important things we can counsel patients about, says Dr. Arjun Balar, medical oncologist and assistant professor of medicine at the Perlmutter Cancer Center at NYU Langone Health.

What genetic testing means is understanding in a comprehensive way all the genetic abnormalities that may be present in one patients cancer that may not be present in others.

When examining genetic changes within tumor cells, researchers look for two main things:

These genetic abnormalities are what researchers are beginning to use as biomarkers for predicting patient responses to different forms of treatment.

In some families, bladder cancer occurs at higher rates than in the general population. In these cases, careful examination of the genealogy may reveal specific mutations passed from parent to child that may lead a medical provider to suspect one of the hereditary forms of bladder cancer. Some germline mutations linked to bladder cancer include:

While its possible, inherited gene mutations arent as commonly associated with bladder cancer as they are with other types of cancer, such as breast and ovarian. Sometimes, bladder cancer may occur in families because of toxic chemical or environmental exposures.

There are certain factors that increase an individuals risk for developing bladder cancer even if no family history exists. These include smoking and exposure to specific chemicals over long periods of time.

There are also inherited genetic syndromes that may place an individual at greater risk for developing bladder cancer. These include:

If genetic testing reveals you lack certain genes mutated in bladder cancer, you may be less likely to respond to certain treatments. These include targeted therapies, immunotherapies and chemotherapy drugs.

Genetic testing is not the only factor that determines your response to certain treatments. Even if your bladder cancer has all the genetic mutations that predict response to certain treatments, it still may not respond to them, because genetics is only one factor in determining a treatments effectiveness.

To increase the likelihood of response, bladder cancer treatments need to be combined with interventions designed to help your immune system target and kill cancer cells.

Genetic testing may also inform some decisions you and your medical team make as part of your ongoing care. If you are planning additional treatment after surgery or radiation, genetic testing may help determine the most appropriate treatment to use.

Genetic testing may be beneficial for many people with cancer. However, no guidelines exist to determine who should get genetic testing and the type of testing that should be done.

When I counsel a patient whos now undergoing their first treatment for advanced bladder cancer, Ill often encourage them to undergo genetic testing, mainly because we may find a genetic marker that is present in their cancer that might help me direct them toward a specific clinical trial that involves a drug that is specific for their genetic mutation, explains Dr. Balar.

Dr. Balar also recommends genetic testing for any patient with stage II or greater cancer. I advocate for early testing to have that information available early on so that if its needed, that information is readily available to make treatment decisions.

If youve been diagnosed with bladder cancer, talk to your healthcare team about the benefits and limitations of genetic testing.

Learn more about SurvivorNet's rigorous medical review process.

Lindsay Modglin is a freelance writer. Read More

Genetic testing helps identify specific genes that have mutated or been altered in a way that causes normal cells to become cancerous. These results are used by healthcare providers to predict responses to various types of treatment and monitor the progress of the disease. Genetic testing can refer to both germline testing (mutations in cells without cancer ) and also somatic testing of a patients tumor (mutations in cells with cancer).

What genetic testing means is understanding in a comprehensive way all the genetic abnormalities that may be present in one patients cancer that may not be present in others.

When examining genetic changes within tumor cells, researchers look for two main things:

These genetic abnormalities are what researchers are beginning to use as biomarkers for predicting patient responses to different forms of treatment.

In some families, bladder cancer occurs at higher rates than in the general population. In these cases, careful examination of the genealogy may reveal specific mutations passed from parent to child that may lead a medical provider to suspect one of the hereditary forms of bladder cancer. Some germline mutations linked to bladder cancer include:

While its possible, inherited gene mutations arent as commonly associated with bladder cancer as they are with other types of cancer, such as breast and ovarian. Sometimes, bladder cancer may occur in families because of toxic chemical or environmental exposures.

There are certain factors that increase an individuals risk for developing bladder cancer even if no family history exists. These include smoking and exposure to specific chemicals over long periods of time.

There are also inherited genetic syndromes that may place an individual at greater risk for developing bladder cancer. These include:

If genetic testing reveals you lack certain genes mutated in bladder cancer, you may be less likely to respond to certain treatments. These include targeted therapies, immunotherapies and chemotherapy drugs.

Genetic testing is not the only factor that determines your response to certain treatments. Even if your bladder cancer has all the genetic mutations that predict response to certain treatments, it still may not respond to them, because genetics is only one factor in determining a treatments effectiveness.

To increase the likelihood of response, bladder cancer treatments need to be combined with interventions designed to help your immune system target and kill cancer cells.

Genetic testing may also inform some decisions you and your medical team make as part of your ongoing care. If you are planning additional treatment after surgery or radiation, genetic testing may help determine the most appropriate treatment to use.

Genetic testing may be beneficial for many people with cancer. However, no guidelines exist to determine who should get genetic testing and the type of testing that should be done.

When I counsel a patient whos now undergoing their first treatment for advanced bladder cancer, Ill often encourage them to undergo genetic testing, mainly because we may find a genetic marker that is present in their cancer that might help me direct them toward a specific clinical trial that involves a drug that is specific for their genetic mutation, explains Dr. Balar.

Dr. Balar also recommends genetic testing for any patient with stage II or greater cancer. I advocate for early testing to have that information available early on so that if its needed, that information is readily available to make treatment decisions.

If youve been diagnosed with bladder cancer, talk to your healthcare team about the benefits and limitations of genetic testing.

Learn more about SurvivorNet's rigorous medical review process.

Lindsay Modglin is a freelance writer. Read More

Original post:
What Can Genetics Tell Us About the Molecular Features of a Bladder Cancer Tumor? - SurvivorNet

Genetics

CDC, ClinGen Partner to Develop Curated List of Important Variants for Use in NGS Genetic Testing – GenomeWeb

NEW YORK The Centers for Disease Control and Prevention said on Monday that its Genetic Testing Reference Materials Program (GeT-RM) has partnered with the Clinical Genome Resource (ClinGen) to develop a publicly available list of 546 curated clinically important variants in 84 genes for use in next-generation sequencing genetic testing.

By defining variants that are either major contributors to disease or difficult to detect, the list will serve as a resource for the design of comprehensive analytical validation studies, as well as the creation of computer-modulated or simulated reference materials for clinical genomic test development, the partners said.

Genetic testing has grown from the analysis of small sets of known pathogenetic variants in one or a few genes to the analysis of hundreds or thousands of genes simultaneously using NGS, they added. But it's difficult, or even impossible, to obtain DNA reference materials containing the full scope of variants and variant types needed to perform a comprehensive validation study. It can also be challenging for laboratories to maintain the expert knowledge to identify variants that are appropriately representative of the spectrum of disease for inclusion in validation studies.

The new variant list, they said, will help address these complexities.

The CDC and ClinGen first proposed the curated list in a paper published in August in the Journal of Molecular Diagnostics. The variant types include 346 SNVs, 104 deletions, 37 copy number variants, 25 duplications, 18 deletion-insertions, five inversions, four insertions, two complex rearrangements, three difficult-to-sequence regions, and two fusions. They were nominated for a variety of reasons, including being major contributors to disease, analytically difficult to detect, or inadvertently filtered out due to high allele frequency.

The authors also noted that the list of 84 genes include 29 of the 73 genes recommended by the American College of Medical Genetics and Genomics for reporting of incidental or secondary findings.

The ClinGen Allele Registry was used to standardize nomenclature for all nominated variants, and ClinVar Variation IDs and associated disorders were added where available. The Food and Drug Administration has also recognized ClinGen's curation process and its resulting classifications as a regulatory-grade variant database, and the curated variants are available via the National Center for Biotechnology Information's ClinVar database and ClinGen's Evidence Repository.

"This important novel approach will remove a critical bottleneck for test developers and may help harmonize test development and validation across laboratories," co-lead investigator Birgit Funke, VP of genomic health at Sema4, said in a statement.

Co-lead investigator and GeT-RM Director Lisa Kalman also noted that the partners have started a pilot project to demonstrate how the curated variants "could be used to create reference materials by in silico mutagenesis of NGS sequencing files. The pilot will examine whether the added variants can be detected by the clinical laboratories that generated the NGS files and demonstrate a general process that labs can use to develop electronic reference materials to fit their own needs."

GeT-RM and ClinGen will continue to add to the current variant list as needed, and are inviting input from the genetics community about the list and the processes used to generate it.

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CDC, ClinGen Partner to Develop Curated List of Important Variants for Use in NGS Genetic Testing - GenomeWeb

Genetics

Arrhythmia: Is It a Genetic Condition? – Healthline

You inherit a lot of things from your parents, including the color of your eyes and how tall you will be. But not every genetic trait is a good one.

An arrhythmia is one example of a genetic health condition. These can also be called inherited or familial conditions.

While sudden cardiac death is extremely rare, affecting just 3 in every 100,000 people, a 2011 study found that about 70 percent of people under 40 who died from sudden cardiac issues had underlying heart arrhythmias that they inherited. This means that the issue with the hearts ability to beat regularly was passed on by one or both parents.

Sometimes, the issue is limited to a malfunction in the electrical signals in the heart, the American Heart Association says. But in about a third of cases, arrhythmias can develop because of structural issues, or the way the heart is formed.

Your heart operates using a complex electrical system that pulses through a detailed and delicate structure. Any time one of these electrical signals is off, or a part of the structure is damaged or formed incorrectly, it can create a host of issues.

Experts divide inherited heart arrhythmias into two categories:

All inherited heart arrhythmias are considered to be relatively rare conditions, but the most common types are:

Read on to learn about the main types of inherited heart arrhythmias.

Atrial fibrillation, also known as AFib or AF, is the most common type of heart arrhythmia overall. This condition involves the top chambers of the heart, which are known as the right and left atria.

In AFib, the right and left atria quiver and are not coordinated in pumping. This leads to compromised blood flow to the lower chambers of the heart, or the right and left ventricles.

AFib can cause blood to pool in the atria. This increases your chance of developing blood clots, which are potentially life threatening. A 2016 study estimated that up to a third of all strokes that occur in people ages 65 and older are due to AFib.

This condition can develop with age, but recent studies have found that up to 30 percent of people with AFib inherited it. According to MedlinePlus Genetics, several genes have been linked to the development of familial AFib:

Many of these genes provide instructions as your heart forms on how its electrical channels should be wired. If these channels arent wired correctly, then ions tiny particles with an electrical charge will have trouble passing signals through the muscles of your heart.

Brugada syndrome is another type of electrical issue in the heart that causes the ventricles to beat irregularly or too fast. When this happens, your heart cant pump blood out to the body effectively.

This can cause serious difficulties since many of your organs rely on a consistent and strong blood flow to work properly. In severe cases, Brugada syndrome can cause ventricular fibrillation, a potentially life threatening irregular heart rhythm.

A 2016 study showed that at least 23 genes are associated with this syndrome. The primary ones are:

This is a rare form of inherited arrhythmia. People with catecholaminergic polymorphic ventricular tachycardia (CPVT) will experience a very fast heart rhythm during physical activity, called ventricular tachycardia.

In CPVT, ventricular tachycardia usually happens during some form of exercise. Sometimes you can notice it before ventricular tachycardia occurs. You can do this by observing symptoms known as ventricular premature contractions (VPCs) during exercise.

With this type of genetic arrhythmia, the structure of the heart is usually unaffected. It typically appears in people 40 years and younger.

Specific genes linked to this condition are:

MedlinePlus Genetics says that RYR2 mutations account for about half of CPVT cases, while CASQ2 causes only about 5 percent. Both these genes are responsible for making proteins that help keep your heartbeat regular.

With this condition, the muscles that cause the heart to contract, or beat, take too long to recharge between pumps. This can upset the timing and regularity of your heartbeat, leading to other issues. While long QT syndrome can be caused by medications or other heart conditions, it can be inherited for many.

A 2016 study found that 15 genes are associated with this condition, but the most common are:

Most of the genes linked to familial arrhythmias are autosomal dominant, but some autosomal recessive disorders can cause long QT syndrome too. Genes KCNQ1 and KCNE1 are linked to rarer types of long QT syndrome called Jervell and Lange-Nielsen syndromes. In addition to inherited arrhythmias, people with these conditions also experience deafness.

This is an uncommon type of inherited arrhythmia. According to MedlinePlus Genetics, only about 70 cases of short QT syndrome have been diagnosed since it was recognized in 2000. Many more cases may exist, but they havent been diagnosed because this syndrome can occur without any symptoms.

With this condition, the heart muscle doesnt take long enough to charge between beats. This can cause no symptoms at all in some people. But in others, its the cause of sudden cardiac arrest or death.

Genes linked to this condition include:

With this rare condition, the heart has both structural and electrical issues. Electrical issues come in the form of a long QT interval, or the time it takes the heart to charge after each beat.

A long QT interval can lead to ventricular tachycardia, an often fatal arrhythmia. Ventricular tachycardia is the cause of death in about 80 percent of people with this syndrome.

Since this syndrome can also affect other parts of the body like the nervous system and immune system, many people with Timothy syndrome die during childhood. Its an autosomal dominant syndrome, meaning only one copy of an altered gene can lead to it. But because few people with Timothy syndrome survive into adulthood, its not usually passed from parent to child.

Instead, Timothy syndrome usually develops because of new mutations in the CACNA1C gene. This gene helps to manage the flow of calcium ions through heart muscles, affecting the regularity of your heartbeat.

Another issue with the hearts electrical system, Wolff-Parkinson-White syndrome occurs when an extra pathway for signals forms in the heart. This means that electrical signals can skip over the atrioventricular node, the part of the heart that helps control your heart rate.

When electrical signals skip over this node, it can cause your heart to beat extremely fast. This results in an arrhythmia called paroxysmal supraventricular tachycardia.

In some cases, this syndrome has been passed on through families. But most people who develop this condition have no family history. Also, for many people with this syndrome, the cause is unknown. A few cases are the result of mutations in the PRKAG2 gene.

This rare condition is primarily a structural issue. If you have this condition, a genetic mutation causes the muscle cells in your right ventricle the lower chamber of the heart to die. The condition mostly develops in people under age 35.

Arrhythmogenic right ventricular dysplasia usually develops with no symptoms at all. But it can still cause irregular heartbeats and even sudden death, especially during exercise. In later stages, this condition can also lead to heart failure.

Roughly half of all cases of arrhythmogenic right ventricular heart failure run in families. Autosomal dominant transmission from one parent is most common. But it can be passed on as an autosomal recessive gene from both parents, too. At least 13 genetic mutations have been connected to this disorder. PKP2 appears to be one of the most commonly affected genes.

Genes that cause this condition are responsible for forming desmosomes, or structures that connect muscle cells in the heart to each other. When these cells are not formed correctly, the cells that make up the muscles in your heart cant connect or communicate signals to one another.

Theres a lot of uncertainty around the cause of idiopathic ventricular fibrillation. Many people who are diagnosed with this condition have survived a cardiac arrest with ventricular fibrillation and no other obvious causes. A genetic cause has been proposed in a 2016 study, but research is ongoing.

Idiopathic means that a conditions origins are unknown. As genetic testing for other familial arrhythmias improves, it seems as though cases of idiopathic ventricular fibrillation are going down.

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Arrhythmia: Is It a Genetic Condition? - Healthline

Genetics

Genetics scientist: No new covid19 variant in Trinidad and Tobago – TT Newsday

NewsRia Chaitram2 Days AgoProfessor Christine Carrington -

A genetics scientist has dismissed claims that there were new covid19 variants in Trinidad and Tobago and by extension the rest of the Caribbean.

At the ministrys covid19 media conference on Saturday morning, professor of molecular genetics and virology at the University of the West Indies (UWI) campus in St Augustine, Christine Carrington said the claims of an undetermined strain stemmed from inaccurate reports on social media.

In September, reports coming out of Grenada suggested that there was an undetermined covid19 variant, which was attributable to its rise in cases in mid-August.

The claims said samples from Grenada as well as Barbados sent to the Caribbean Public Health Agency (CARPHA) for testing came back undetermined and further genome sequencing and analysis were needed.

Carrington said, I can assure that no undetermined variant was discovered among the samples from Grenada or Barbados when sent to Trinidad for home genome sequencing.

I am absolutely certain about this because it is my lab at UWI that does the sequencing and I report the results, myself, to CARPHA and to the Ministry of Health.

She described the claims as erroneous and said it came about because of a misinterpretation of the genome sequencing results.

Genome sequencing is like putting together a jigsaw puzzle, if you are able to extract enough pieces of the virus genetic information from a sample and, work out the position of the virus genome, then you can work out what lineage you are looking at, and whether it is a variant of concern.

Sometimes samples are not of sufficient quality to get enough pieces of that puzzle, to build enough of a picture to work out which lineage the virus belongs to. In those cases, to determine if it is a variant of concern, you cannot say yes or no because you do not have enough information, she explained.

As such, Carrington said, the low quality of the samples taken from Grenada and Barbados, was unable to show the lineage of the virus, which meant the results were undetermined and not that there was an undetermined variant.

She explained that home genome sequencing revealed the detailed structure of the virus and the only way to characterise new variants, while PCR testing was done to determine if the virus was present in a person, and they should not be confused.

When the matter was first detected and reported in September, the Pan-American Health Organization (PAHO) also dismissed the claim.

It said, Our specialists have confirmed with the laboratory involved that a result from the samples in Grenada could not be determined due to their low quality and not due to an undetermined variant.

Carrington added that in TT, the covid19 variants of concern were present were alpha, gamma and delta, in which gamma and delta were evidenced to be spread at community level and alpha was not.

The mu and lambda variants, she said were not detected in TT, but detected in other regional countries.

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Genetics scientist: No new covid19 variant in Trinidad and Tobago - TT Newsday

Genetics

Americans’ anxiety impacted by the ongoing pandemic, yet 1 in 5 say they won’t seek – EurekAlert

video:A new GeneSight Mental Health Monitor national survey finds many Americans are experiencing anxiety symptoms, but some wont seek treatment. view more

Credit: GeneSight Mental Health Monitor

Many Americans are experiencing anxiety symptoms as a result of the pandemic. Yet, one in five say they wont seek treatment for mental health conditions and others say they wont get help until these symptoms take a toll in their lives.

Nearly half (46%) of all respondents rated their anxiety symptoms as moderate to severe over the past six months, according to the GeneSight Mental Health Monitor from Myriad Genetics, Inc. (NASDAQ: MYGN), a leader in genetic testing and precision medicine.

Of those surveyed who are diagnosed with anxiety, the numbers are even worse 86% rated their anxiety symptoms as moderate to severe over the past six months. While the pandemic is only 18 months old, more than half of those diagnosed with anxiety say they lived with symptoms for years or decades before seeking treatment.

For those who havent sought treatment but are concerned they may be suffering from anxiety, only 36% are planning to seek treatment. When asked what it would take to get help for their anxiety, 47% said a debilitating panic attack. Additional reasons included not being able to leave their homes (34%), sleep issues (31%), an unshakeable feeling of dread (30%) and a negative impact to relationships (30%).

Imagine waiting until you lose your hearing to treat an ear infection. Patients who are experiencing anxiety symptoms shouldnt wait to seek treatment, said Robin Miller, Internist, MD, MHS, owner of Triune Integrative Medicine in Medford, Oregon. If you are afraid to go out, experiencing panic attacks, cant sleep, or your relationships are suffering, you dont have to live like this. You don't have to wait. You don't have to suffer for years. Help is out there and treatment can help.

The impact of COVID on anxiety

Many American adults expressed concern regarding how the pandemic has impacted their mental health:

Mental health conversation is shifting

Of those diagnosed with anxiety, nearly half said they would feel more comfortable talking about their mental health today than they would a year ago.

The pandemic appears to have made people willing to share their mental health struggles, said Mark Pollack, MD, chief medical officer for Mental Health at Myriad Genetics. Talking about mental health challenges is the first step towards getting treatment.

Mental health disorders should be treated

While more people appear to be willing to talk about their mental health, one out of five respondents still say they wont seek treatment. The top reasons for those who would NOT seek treatment for a mental challenge are:

Untreated anxiety can be associated with distressing and disabling panic attacks, intense worry, and disruption to your life, work and relationships, said Dr. Pollack. Like other medical conditions, individuals should seek evaluation and treatment as early as possible, to minimize the distress and dysfunction associated with these conditions.

Anna, a 32-year-old mother who was first diagnosed with anxiety in her early 20s, said that seeking treatment wasnt easy. She went through an extensive trial-and-error period with different medications and dosages.

Medication seems to work fast in my body, so after taking a medication that was supposed to help me, my anxiety would instead get worse I would have suicidal thoughts and be paralyzed with worry, said Anna. My doctor would increase the dosage or change medications, which would lead to horrible side effects.

Anna then took the GeneSight test, which analyzes how a patients genes may affect their outcomes with medications commonly prescribed to treat anxiety, depression, ADHD, and other psychiatric conditions.

After reviewing the results of my test, my psychiatrist reduced the dose by half, and it helped me. I honestly dont know if I would have taken another medication if it hadnt been for genetic testing, said Anna. Im glad I pursued treatment until I found a medication and dosage that worked for me. Now that Im not riddled with crippling anxiety, everything has gotten better. Im a better mom. Im more motivated, more outgoing and friendly.

For more information on how genetic testing can help inform clinicians on treatment of depression, anxiety, ADHD, and other psychiatric conditions, please visit GeneSight.com. To download graphics, a multimedia video and other information regarding the survey, please visit https://bit.ly/2Y4qGri.

About the GeneSight Mental Health Monitor

The GeneSight Mental Health Monitor is a nationwide survey of U.S. adults conducted by ACUPOLL Precision Research, Inc. in Aug.-Sept. 2021 among a statistically representative sample of adults age 21+, including a representative sample diagnosed with anxiety. The margin of error in survey results for the total base population at a 95% confidence interval is +/- 3%.

About the GeneSight Test

The GeneSight Psychotropic test from Myriad Genetics is the category-leading pharmacogenomic test for 61 medications commonly prescribed for depression, anxiety, ADHD, and other psychiatric conditions. The GeneSight test can help inform clinicians about how a patients genes may impact how they metabolize and/or respond to certain psychiatric medications. It has been given to more than 1.5 million patients by tens of thousands of clinicians to provide genetic information that is unique to each patient. The GeneSight test supplements other information considered by a clinician as part of a comprehensive medical assessment. Learn more at GeneSight.com.

About Myriad Genetics

Myriad Genetics is a leading genetic testing and precision medicine company dedicated to advancing health and wellbeing for all, empowering individuals with vital genetic insights and enabling healthcare providers to better detect, treat and prevent disease. Myriad discovers and commercializes genetic tests that determine the risk of developing disease, assess the risk of disease progression, and guide treatment decisions across medical specialties where critical genetic insights can significantly improve patient care and lower healthcare costs. For more information, visit the company's website: http://www.myriad.com.

Myriad, the Myriad logo, BART, BRACAnalysis, Colaris, Colaris AP, myRisk, Myriad myRisk, myRisk Hereditary Cancer, myChoice, myPlan, BRACAnalysis CDx, Tumor BRACAnalysis CDx, myChoice CDx, Vectra, EndoPredict, Prequel, Foresight, GeneSight, riskScore and Prolaris are trademarks or registered trademarks of Myriad Genetics, Inc. or its wholly owned subsidiaries in the United States and foreign countries.

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Americans' anxiety impacted by the ongoing pandemic, yet 1 in 5 say they won't seek - EurekAlert

Cell Biology

Research Fellow in Cell Biology job with UNIVERSITY OF SOUTHAMPTON | 267967 – Times Higher Education (THE)

DevelopmentalBiology

Location: Highfield CampusSalary: 31,406 to 38,587 per annumFull Time Fixed Term for 1 yearClosing Date: Wednesday 10 November 2021Interview Date: To be confirmedReference: 1409121BJ-R

You are invited to apply for a postdoctoral position to work in Dr. Salah Elias group at the School of Biological Sciences the University of Southampton, to study the mechanisms of oriented cell divisions (OCDs) during mammary epithelial morphogenesis. This position is available for 12 months in the first instance, tenable from January 2022. The post offers opportunities for flexible working, which can be agreed upon.

You will have a PhD* in a relevant subject area, with a strong cell biology component. A high level of competence in cell and molecular biology and high-resolution microscopy is required. Having previous experience in bioinformatics will be advantageous. You should be an enthusiastic and highly motivated scientist, a good team worker, and an excellent communicator.

Our group is interested in how regulation of cell division in the developing mammary gland influences mammary epithelial cell fate and dynamics, and the mechanisms of epithelial differentiation and architecture. We focus our efforts on addressing key questions of 1) how spindle orientation and cell polarity are controlled in dividing epithelial cells; 2) how these mechanisms influence epithelial morphogenesis; 3) and how their dysregulation leads to epithelial transformation and invasiveness. Specifically, this project utilizes a combination of molecular and cell biology, microscopic techniques, proteomics, and mass spectrometry to identify novel proteins that participate in OCDs. It offers excellent potential for preparing grant and fellowship proposals and developing new collaborations.

You will assume leadership on the project, including significant intellectual contribution, setting up collaborations, and involvement in making decisions about current and future research directions. You will work in a highly collaborative atmosphere supported by state-of-the-art research facilities that will provide a perfect environment to perform the studies.

*Applications for Research Fellow positions will be considered from candidates who are working towards or nearing completion of a relevant PhD qualification. The title of Research Fellow will be applied upon successful completion of the PhD. Prior to the qualification being awarded the title of Senior Research Assistant will be given.

For informal inquiries, please contact Dr. Salah Elias by email: S.K.Elias@soton.ac.uk

Equal Opportunities and Benefits

Biological Sciences holds an Athena SWAN Silver Award, demonstrating a commitment to equal opportunities and gender balance in the workplace.

We aim to be an equal opportunities employer and welcome applications from all sections of the community. Please note that applications from agencies will not be accepted.

The University of Southampton has a generous maternity policy** and onsite childcare facilities; employees are able to participate in the childcare vouchers scheme. Other benefits include state-of-the-art on-campus sports, arts and culture facilities, a full program of events, and a range of staff discounts.

**subject to qualifying criteria

Application Procedure

You should submit your completed online application form at http://www.jobs.soton.ac.uk. The application deadline will be midnight on the closing date stated above. Please include a covering letter and full CV in your application. References are requested along with your application, so please allow time for these to be received prior to the close date, to assist the department with shortlisting. If you need any assistance, please call Hannah Farrance (Recruitment Team) on +44 (0) 23 8059 2507. Please quote reference 1409121BJ-R on all correspondence.

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Research Fellow in Cell Biology job with UNIVERSITY OF SOUTHAMPTON | 267967 - Times Higher Education (THE)

Cell Biology

RxCell Inc., A*STAR’s IMCB, NUS, and SERI Collaborate to Develop Cellular Therapeutics for Age-related Diseases – Business Wire

SAN FRANCISCO--(BUSINESS WIRE)--RxCell, a Bay Area-based biotechnology company focused on therapeutic applications of induced pluripotent stem cells (iPSC), together with the Agency for Science, Technology and Research (A*STAR)s Institute of Molecular and Cell Biology (IMCB), Yong Loo Lin School of Medicine at the National University of Singapore (NUS) and the Singapore Eye Research Institute (SERI), announced a co-funded collaboration to develop cellular therapeutics for age-related diseases.

As life expectancy increases, the prevalence of disability and morbidity associated with age-related diseases including age-related retinal degeneration and musculoskeletal degeneration is burgeoning. This collaboration will develop next generation cell therapies to overcome these challenges. Loss of adult stem cell function is a contributor to aging and many associated diseases. Using stem cells to mitigate this decline in endogenous stem cell function is a novel approach that may have broad-sweeping benefits, said Professor Brian Kennedy, Director of the NUS Centre for Healthy Longevity.

Through this collaboration, RxCell will contribute their clinical grade iPSC as well as hypoimmunogenic iPSC generated by their proprietary technologies which confer the advantage of being able to evade the hosts immune system and avoid an unwanted immune response. This will complement IMCBs expertise in retinal diseases and animal modelling, NUSs expertise in age-related cell therapy strategies and SERIs expertise in rabbits and non-human primates ocular disease models.

This research collaboration underscores the value of academia and industry partnerships that play an essential role in translating novel scientific discoveries into important new therapeutics for improved health outcomes. It further demonstrates A*STARs role in adding vibrancy to the local biotech ecosystem, said Professor Hong Wanjin, Executive Director of IMCB.

We at RxCell are excited to establish a Joint Lab to work with IMCB, A*STAR, NUS and SERI to advance our efforts to bring much needed novel therapies to address age-related health problems, said Professor Xianmin Zeng, Founder & CEO of RxCell.

Our partnership with RxCell signals Singapore's move towards harnessing stem cell regenerative technologies to improve health outcomes. As an ophthalmologist and clinician-scientist, I am excited about the potential to restore vision for patients with otherwise blinding conditions. In the near future, we plan to conduct a first-in-man clinical trial in Singapore, said Dr. Su Xinyi, Senior Principal Investigator at IMCB, and Vitreo-Retinal Consultant at the National University Hospital.

Currently available therapies cannot fully restore vision if a large number of cells in the retina are already damaged or lost. Cellular therapy offers the prospect to regenerate lost or damaged tissue and therefore improved outlook for patients, said Professor Gemmy Cheung, Senior Consultant, Head of Medical Retina (SNEC).

About RxCell Inc.

RxCell Inc. is a cell therapy company with clear pipelines of products and next generation products. We have manufactured a Master Cell Bank of induced pluripotent stem cells (iPSC) for allogenic therapy including current IND activities for retinal degenerative disorders. More recently we have developed a novel hypoimmunogenic strategy and made universal iPSC lines that can be used to manufacture differentiated cells for allogenic therapy. We also have a safe harbor patented technology that allows for expressing therapeutic products that can be delivered to target locations for prolonged and sustained delivery of biologics.

In addition, RxCell markets cells and media as well as other associated reagents for academic and drug discovery research though its XCell Science brand (http://www.xcellscience.com/).

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RxCell Inc., A*STAR's IMCB, NUS, and SERI Collaborate to Develop Cellular Therapeutics for Age-related Diseases - Business Wire

Cell Biology

Join the conversation on how cells talk to themselves and to each other – American Society for Biochemistry and Molecular Biology

Cellular membranes are key to the compartmentalization of cellular processes and serve as platforms for the assembly of protein signaling complexes. Most human diseases can be traced to defects in signal generation and decoding caused by altered interaction of proteins with cellular membranes.

The unique lipid composition of different membranes defines organelle identity and is critical for proteinmembrane interactions. How cells generate and maintain the specific lipid composition of their organelles against complex and highly dynamic vesicular transport pathways is a fundamental question at the intersection of lipid and cell biology. Moreover, nonvesicular lipid transfer and contact sites formed between various organelles, as well as transient spikes in signaling lipids, are critical for cell signaling and homeostasis.

The theme of this session is how to respond to these important questions, and the program features expert speakers covering a variety of exciting topics within this theme.

Keywords: lipid transfer proteins, membrane contact sites, lipid compartmentalization, lipid dynamics, cell signaling

Who should attend: both experts and novices who recognize that not all lipids are bad for your health and also people who are interested in proteins, as we understand that membranes without proteins and proteins without membranes would not support life

Theme song: "Come Together" by the Beatles, the first allusion to the importance of organelle contact sites

This session is powered by Palmolive chasing lipids since 1898.

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Join the conversation on how cells talk to themselves and to each other - American Society for Biochemistry and Molecular Biology

Cell Biology

Trigger your skin to heal itself with these beauty products – fox13now.com

This summer we introduced you to Augustinus Bader, a skincare brand with dozens of beauty industry awards and countless, A-list celebrity fans. Well, now theres some big news from the brand and beauty writer and editor Cheryl Kramer Kaye shared the news with us.

Augustinus Bader is a real personhes a professor, a physician, and an expert in the field of stem cell biology.

Professor Bader has spent over 30 years researching and developing technologies that activate the bodys healing process, which led him to create the groundbreaking technology behind his skincare line. Its called TFC8 or Trigger Factor Complex 8 because it triggers your skin to heal itself.

By popular demand, Augustinus Bader is launching two new products: The Serum and The Eye Cream.

Both of the products have the TFC8 technology, plus ingredients that both protect and repair the skin to deliver real results. The serum has edelweiss extract for lifting and tightening; pomegranate seed concentrate for cell renewal; and vitamin C for brightening.

And the eye cream has a duo of seaweed extracts to minimize puffiness and dark circles; pennywort extract for hydration and protection against environmental damage; and niacinamide, to protect against UV, pollution, even blue light.

The textures of these products are beautifully lightweight and fast-absorbing, but also incredibly hydrating.

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Trigger your skin to heal itself with these beauty products - fox13now.com

Cell Biology

New algorithm provides a high-definition analysis of genome organization in single cells – News-Medical.net

Within the microscopic boundaries of a single human cell, the intricate folds and arrangements of protein and DNA bundles dictate a person's fate: which genes are expressed, which are suppressed, and -; importantly -; whether they stay healthy or develop disease.

Despite the potential impact these bundles have on human health, science knows little about how genome folding happens in the cell nucleus and how that influences the way genes are expressed. But a new algorithm developed by a team in Carnegie Mellon University's Computational Biology Department offers a powerful tool for illustrating the process at an unprecedented resolution.

The algorithm, known as Higashi, is based on hypergraph representation learning -; the form of machine learning that can recommend music in an app and perform 3D object recognition.

School of Computer Science doctoral student Ruochi Zhang led the project with Ph.D. candidate Tianming Zhou and Jian Ma, the Ray and Stephanie Lane Professor of Computational Biology. Zhang named Higashi after a traditional Japanese sweet, continuing a tradition he began with other algorithms he developed.

He approaches the research with passion but also with a sense of humor sometimes."

Jian Ma, the Ray and Stephanie Lane Professor of Computational Biology

Their research was published in Nature Biotechnology and was conducted as part of a multi-institution research center seeking a better understanding both of the three-dimensional structure of cell nuclei and how changes in that structure affect cell functions in health and disease. The $10 million center was funded by the National Institutes of Health and is directed by CMU, with Ma as its lead principal investigator.

The algorithm is the first tool to use sophisticated neural networks on hypergraphs to provide a high-definition analysis of genome organization in single cells. Where an ordinary graph joins two vertices to a single intersection, known as an edge, a hypergraph joins multiple vertices to the edge.

Chromosomes are made up of a DNA-RNA-protein complex called chromatin that folds and arranges itself to fit inside the cell nucleus. The process influences the way genes are expressed by bringing the functional elements of each ingredient closer together, allowing them to activate or suppress a particular genetic trait.

The Higashi algorithm works with an emerging technology known as single-cell Hi-C, which creates snapshots of chromatin interactions occurring simultaneously in a single cell. Higashi provides a more detailed analysis of chromatin's organization in the single cells of complex tissues and biological processes, as well as how its interactions vary from cell to cell. This analysis allows scientists to see detailed variations in the folding and organization of chromatin from cell to cell -; including those that may be subtle, yet important in identifying health implications.

"The variability of genome organization has strong implications in gene expression and cellular state," Ma said.

The Higashi algorithm also allows scientists to simultaneously analyze other genomic signals jointly profiled with single-cell Hi-C. Eventually, this feature will enable expansion of Higashi's capability, which is timely given the expected growth of single-cell data Ma expects to see in coming years through projects such as the NIH 4D Nucleome Program his center belongs to. This flow of data will create additional opportunities to design more algorithms that will advance scientific understanding of how the human genome is organized within the cell and its function in health and disease.

"This is a fast-moving area," Ma said. "The experimental technology is advancing rapidly, and so is the computational development."

Source:

Journal reference:

Zhang, R., et al. (2021) Multiscale and integrative single-cell Hi-C analysis with Higashi. Nature Biotechnology. doi.org/10.1038/s41587-021-01034-y.

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New algorithm provides a high-definition analysis of genome organization in single cells - News-Medical.net