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Salil Vaniawala
Dr. Salil N.Vaniawala
S N Genelab & Research Centre.

It gives me immense pleasure to give an insight about our laboratory.
Today genetic and molecular testing has become pertinent part of diagnosis for various ailments like cancer, infertility and infectious diseases like HIV, HCV, and HBV etc.

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Bariatric surgery reduces the long-term rates of hypertension, type 2 diabetes, and other obesity-related medical conditions, but those advantages must be weighed against the risks of surgery-related complications and diminished effects beyond 5 years.

These are among the conclusions from two studies published January 16 in the Journal of the American Medical Association as part of an obesity-related theme issue.

One, a large cohort study by Gunn Signe Jakobsen, MD, of the Morbid Obesity Centre, Vestfold Hospital Trust, Tønsberg, Norway, showed that bariatric surgery reduced the risk for hypertension and other obesity-related comorbidities but also raised the risk for surgery-related complications at a median of 6.5 years.

"The risk for complications should be considered in the decision-making process," Dr Jakobsen and colleagues write.

 

And in a smaller observational 5-year follow-up study, Sayeed Ikramuddin, MD, of the Department of Surgery, University of Minnesota, Minneapolis, and colleagues found that adults with type 2 diabetes randomized to gastric bypass in addition to lifestyle had significantly better glycemia, cholesterol, and blood pressure levels compared with those randomized to medical management with lifestyle.

However, because the effect size was diminished over 5 years, "further follow-up is needed to understand the durability of the improvement," Dr Ikramuddin and colleagues say.

In other related articles in the same issue of JAMA, as reported by Medscape Medical News, researchers report that the popular new bariatric procedure of sleeve gastrectomy seems to be nearly as good an option as gastric bypass. The decision as to which specific surgery is best for any individual patient needs to be shared by the patient and surgeon, taking into account risks and benefits for each individual, they say. Another report showed that severely obese patients who received 'usual care' were twice as likely to die during a median follow-up of 4 years compared with those who underwent bariatric surgery. 

 

Older health professionals who adhered to a healthy eating pattern were less likely to gain weight over a 20-year follow-up than their peers.

In fact, adhering to a healthy diet was most beneficial in individuals who had a high genetic risk for obesity in a new study.

These data "for the first time indicate that improving adherence to healthy dietary patterns might diminish the genetic association with weight gain," Tiange Wang, MD, PhD, at Tulane University, New Orleans, Louisiana, and colleagues report in their article published online January 10 in BMJ.

Researchers calculated genetic predisposition for obesity based on the presence of 77 genetic variants associated with body mass index (BMI) in two cohorts of male and female health professionals, and they assessed how closely participants adhered to three healthy eating patterns.

 

The findings reinforce that a healthy diet is important for everyone, especially people at greatest risk of obesityLouisa J Ells, a reader in public health and obesity at Teesside University, Middlesbrough, United Kingdom, and colleagues note in an accompanying editorial.

The study shows that "genetic predisposition is no barrier to successful weight management and no excuse for weak health and policy responses," they stress.

"Governments and populations must act to ensure universal healthy diets within health promoting food environments and food systems," they continue.

"This must become the new normal. Only then will we begin to curb and ultimately reverse the global epidemic of obesity."


Aging is largely your chromosomes' fault. That's what Nobel-prize winning biologist Elizabeth Blackburn discovered when she started exploring the world of the invisible, threadlike cellular strands that carry our genetic code.

"It's the over-shortening of telomeres that leads us to feel and see signs of aging," Blackburn said in an April 2017 TED talk . "It sends a signal. Time to die."

Here are a few things Blackburn suggests anyone can do to keep their telomeres long. While these tips won't make you live forever, they can help with your "health span" - the number of years a person lives happily, and disease-free.

The more chronically stressed we are, the shorter our telomeres become. Blackburn conducted researchfocused on mothers caring for children with autism and other chronic conditions, and found that moms who were more resilient to stress — perceiving their situation as a challenge, rather than something hopeless or overwhelming — kept their telomeres longer.“Attitude matters,” Blackburn said.“If you typically see something stressful as a challenge to be tackled, then blood flows to your heart and to your brain, and you experience a brief but energizing spike of cortisol."

 
 
 

It has been announced that you will be doing a talk as part of the “Structural Mass Spectrometry and Top Down Proteomics of Proteoforms and Their Complexes” symposia at Pittcon 2018. Please can you outline the project you are working on and will be discussing during your talk?

I’m Neil Kelleher and I am a Professor at Northwestern University. I'm giving an award talk at Pittcon 2018 in Orlando, Florida, as a recipient of Pittcon’s “Advances in Measurement Science Lectureship Awards”. This is due to my commitment to help form a community called The Consortium for Top-Down Proteomics.

Our mission is to advance the measurement of human proteins with greater precision, to bring to the world the benefits of absolute molecular specificity when it comes to interrogating proteins at the molecular level. Hence, the full expression of this vision is to sequence the human proteome, and that's what the Cell-Based Human Proteome Project is about. It brings us into a really interesting, open, and provocative conversation about science and technology.

The Cell-Based Human Proteome Project is something I proposed in 2012 and have been advancing since then with support from the Consortium for Top Down Proteomics and the Paul G. Allen Frontiers Program. The proposal was to map 250,000 proteoforms in 4,000 different cell types.

We have already determined the human genome. What is the importance in understanding proteins at the same level?

The genome is the blueprint. Now 20 years later, we know there's about 20,000 human genes. They create millions of different molecules in all the different cell types.

When you start talking about disease mechanisms, the precision with which we understand the biology driving disease is related to the precision with which we analysed the proteins involved.  So to is our ability to detect and treat diverse disease types and sub-types.

Biologists would agree that proteins are the mediators of much of what we call a disease phenotype. For example, looking at the outward expression of cancer cells growing in someone's organs - that phenotype is a combination of the genes and the oncogenes driving the cancer, what type of cancer it is, how to defeat it and shrink the tumor – all of these things involve proteins which make up a specific disease phenotype for a particular individual. One must fully understand the proteins in order to understand and treat the disease in attempts save that person.  

 

 


Florida FL /PRNewswire/ - Libella Gene Therapeutics LLC will conduct an outside the United States(OUS) clinical trial in Cartagena, Colombia, using gene therapy to reverse age-related diseases, starting with Alzheimer's. Unlike traditional drugs, which tend to be taken for months or years at a time, gene therapy interventions are intended to be one-off treatments that tackle a disease at its source, repairing faulty DNA and allowing the body to fix itself.

Every day 228 Americans die from Alzheimer's disease, and there is currently no known treatment or cure. Gene therapy offers the ability to permanently correct a disease at its most basic level, the genome, and could offer cures for many conditions that are currently considered incurable. According to Dr. Bill Andrews, the scientist leading the study, "Human telomerase reverse transcriptase (hTERT) is an enzyme that expression plays a role in cellular aging and is normally repressed in cells, resulting in progressive shortening of telomeres. Telomerase gene therapy in adult and old mice delays aging and increases longevity without increasing cancer."

By inducing telomerase, Dr. Andrews and Libella Gene Therapeutics hope to lengthen telomeres in the body's cells. The clinical trial will treat a limited number of patients using the gene therapy treatment, which has been demonstrated as safe, with minimal adverse reactions in over 186 clinical trials.

Dr. Andrews has been featured in Popular Science, on the "Today" show and in numerous documentaries on the topic of life extension. As one of the principal discoverers of both the RNA and protein components of human telomerase, Dr. Andrews was awarded second place as "National Inventor of the Year" in 1997. He earned a Ph.D. in molecular and population genetics at the University of Georgia in 1981. He has served in multiple senior science and technology roles at leading bioscience corporations. Dr. Andrews is a named inventor on over 50 U.S.-issued patents on telomerase and is the author of numerous scientific research studies published in peer-reviewed scientific journals.

 

It has been announced that you will be presenting in the “Analytical Methods in Forensic Biology and DNA Analysis” symposium at Pittcon 2018. Why are bioanalytical methods important for forensics?

Developing analytical methods can help the triers of fact, judges and juries, better understand the events surrounding the circumstances of a crime. In forensic analysis, we are talking about determining the identity of unknown individuals through DNA and using DNA and other chemical signatures to determine and clarify the circumstances of the crime.  

The advantage of modern analytical methods is their specificity and the ability to perform statistical analysis on resultant data. Examples include using laser induced fluorescence to detect trace levels of amplified DNA at a crime scene or using spectroscopic analysis to detect biological stains.

This improved precision and increased sensitivity that bioanalytical methods allow, mean that forensic scientists can help the jury reach a valid conclusion on what has happened.

What will be the main focus of your talk titled “Forensic Epigenetics, A Novel Method for Body Fluid Identification and Phenotyping”?

I will be presenting our work on age and tissue type. We will demonstrate how epigenetic DNA methylation permits the determination of body fluid type, suspect age, and other information from trace levels of samples left behind at crime scenes.

 

A meta-analysis of international data confirms a positive association between long-term night shift work and an increased overall risk for cancer in women, particularly breast cancer.

In North America and Europe, working the night shift was associated with a 32% increased risk for breast cancer overall (odds ratio [OR], 1.316), the authors report.

But the risk was even higher in one specific group: Night nurses were found to have a "remarkable" 58% increased risk (OR, 1.577) for breast cancer.

Breast cancer risk was also elevated in a dose-response way, consistent with earlier studies. For every 5 years a women spent working nights, breast cancer risk increased by 3.3% (OR, 1.033), the study authors say.

 

The review, published online January 8 in Cancer Epidemiology, Biomarkers & Prevention, was led by Xuelei Ma, PhD, from the West China Medical Center of Sichuan University, Chengdu.

"By systematically integrating a multitude of previous data, we found that night shift work was positively associated with several common cancers in women," said Dr Ma in a statement. "Given the expanding prevalence of shift work worldwide and the heavy public burden of cancers, we initiated this study to draw public attention to this issue so that more large cohort studies will be conducted to confirm these associations."

More research is needed to understand the mechanisms behind this association and to better protect women working night shifts against increased cancer risk, Dr Ma told Medscape Medical News.

"Breast cancer is the most diagnosed cancer among women worldwide, with higher incidence in developed regions," he said. "These results might help establish and implement effective measures to protect female night shifters. Long-term night shift workers should have regular physical examinations and cancer screenings."

 

There’s growing evidence that exposure to air pollution can have a number of unhealthy consequences, from cancer to heart disease and respiratory illnesses. In recent years, researchers have also linked air pollution exposure to faster aging in adult cells.

In a new study published in JAMA Pediatrics, an international group of researchers conducted the first detailed look at pollution’s effect on developing babies in utero. They found that the more pollution expectant moms were exposed to while they were pregnant, the shorter their babies’ telomeres: parts of the DNA in every cell that act as a molecular clock keeping track of the cell’s age, and the body’s.

MORE: How Prenatal Pollution Exposure Can Lead to Behavior Problems in Children

According to the study of 641 newborns, those whose mothers were exposed to higher levels of certain types of air pollution (so-called “particulate matter” from things like car emissions and burning of residential heating fuels), were born with shorter telomeres—8.8% shorter in their cord blood cells and 13.2% shorter in their placenta cells—than those whose mothers were exposed to less pollution. The effect was strongest when the moms were exposed during the second trimester.

Telomeres shorten every time a cell divides; since older cells have divided more than younger ones, their telomeres are shorter. Eventually, when the telomeres become too short, that signals the cell to die. The study’s findings suggest that these babies are starting out with a shallower reserve of telomere length—so as their cells divide, the cells will age faster than those that start out with longer telomeres.

 

Though sleep is essential to health and wellbeing, the unique barriers faced by women in maintaining good sleep health are often misunderstood or overlooked, according to a new resource "Women & Sleep: A Guide for Better Health" developed by the Society for Women's Health Research (SWHR®) Interdisciplinary Network on Sleep. The guide provides an evidence-based overview of key sleep challenges women face throughout the lifespan. The Sleep Network also partnered with patients from MyApnea.org to develop "Women & Sleep Apnea," to raise awareness on a disorder that is widely perceived as a "man's disease." Both resources are designed to help women and their healthcare providers address sleep problems.

"Healthy sleep is essential for physical, emotional, and cognitive health just as a healthy diet and physical activity are. Yet, the barriers to healthy sleep faced by women are often overlooked, dismissed or accepted as an unavoidable part of life," said Susan Redline, MD, MPH, SWHR Network on Sleep Chair and Professor of Sleep Medicine, Harvard Medical School. "These are not unsolvable problems and this guide will help women and their healthcare providers improve diagnosis, treatment, and management of sleep disorders and circadian rhythm disorders."

Research has linked poor sleep - including short sleep duration and circadian disruptions, as well as sleep disorders such as sleep apnea and insomnia - to chronic health problems such as obesity, cardiovascular disease, diabetes, stroke, cancer, mental illness, and dementia. However, the sleep needs specific to women are under-recognized. The SWHR Network on Sleep guide addresses sleep challenges for women in three areas:

  • Sleep challenges across the lifespan, including the impact of hormonal changes, challenges of pregnancy and early parenthood, impact of sleep on fertility, and the role of menopause
  • Types of sleep and circadian rhythm sleep-wake disorders, including sleep apnea, insomnia, restless legs syndrome, hypersomnia, shift work sleep-wake disorder, and parasomnias, which are abnormal movements or behaviors during sleep
  • Impact of sleep and circadian rhythm sleep-wake disorders on health and well-being, including heart disease, diabetes, mental health, cancer, pain, and cognitive decline

The SWHR Network on Sleep developed additional resources to highlight the specific challenges of sleep apnea in women, in partnership with patient representatives from MyApnea.org. Approximately 90 percent of women with sleep apnea are undiagnosed. The toll of sleep apnea is well documented, with short-term impact including fragmented sleep, low blood oxygen, sleepiness, and cognitive deficits, and over time, increased risk for vehicle crashes, high blood pressure, heart disease, stroke, and diabetes. "The health consequences of a missed diagnosis are profound and it's critical to recognize that the signs and symptoms of sleep apnea in women are different, and often more subtle, than the hallmark of loud snoring we associate with sleep apnea in men," said Redline.


For some years, there has been increasing awareness that drinking alcohol can increase the risk of developing cancer. Now, research from a mouse study suggests an explanation for how that may happen ? drinking alcohol can lead to damage to DNA in stem cells.

Noting that some cancers are linked to DNA damage in stem cells, lead author Ketan J. Patel, MD, PhD, MRC Laboratory of Molecular Biology, Cambridge Biomedical Campus, United Kingdom, said: "While some damage occurs by chance, our findings suggest that drinking alcohol can increase the risk of this damage."

The research was published online January 3 in Nature.

In the study, animals that lacked a key enzyme involved in processing the metabolic byproducts of alcohol consumption, as well animals without a key DNA repair protein, were both found to have experienced DNA damage after exposure to even small doses of ethanol. The researchers found rearranged chromosomes and permanently altered DNA sequences.

 

"Our study highlights that not being able to process alcohol effectively can lead to an even higher risk of alcohol-related DNA damage and therefore certain cancers," Dr Patel said in a stament.

In the Cancer Research UK Science Blog, Dr Patel stated that in mice that lacked the enzyme that breaks down acetaldehyde, he and his colleagues "saw huge amounts of DNA damage" after just one dose of ethanol. Acetaldehyde is the main metabolic product of alcohol.

"Bits of DNA were deleted, bits were broken, and we even saw parts of chromosomes being moved about and rearranged," he added.

Dr Patel noted: "While we didn't look at whether these mice got cancer or not, previous studies have shown that the type of DNA damage we saw in these mice can considerably increase the risk of cancer."

 

 


Aging is largely your chromosomes' fault. That's what Nobel-prize winning biologist Elizabeth Blackburn discovered when she started exploring the world of the invisible, threadlike cellular strands that carry our genetic code.

"It's the over-shortening of telomeres that leads us to feel and see signs of aging," Blackburn said in an April 2017 TED talk . "It sends a signal. Time to die."

Here are a few things Blackburn suggests anyone can do to keep their telomeres long. While these tips won't make you live forever, they can help with your "health span" - the number of years a person lives happily, and disease-free.

 

The more chronically stressed we are, the shorter our telomeres become. Blackburn conducted 

researchfocused on mothers caring for children with autism and other chronic conditions, and found that moms who were more resilient to stress — perceiving their situation as a challenge, rather than something hopeless or overwhelming — kept their telomeres longer.

“Attitude matters,” Blackburn said.“If you typically see something stressful as a challenge to be tackled, then blood flows to your heart and to your brain, and you experience a brief but energizing spike of cortisol."

 


New research suggests that following a high-fat diet during lactation-;regardless of diet during pregnancy-;alters RNA activity in breast milk. The changes in genetic material may increase the risk of metabolic disorders such as type 2 diabetes in offspring. The article is published ahead of print in Physiological Genomics.

RNA is a molecule chain that uses genetic information from DNA-;the "genetic blueprint"-;to produce proteins in the cells. RNA defects can play a role in potentially serious health conditions such as cancer, heart disease and stroke.

Previous studies have shown that offspring born to mothers who consumed a high-fat diet during pregnancy and breastfeeding are more likely to become obese and develop chronic conditions such as diabetes, high blood pressure and heart disease. However, less is known about the effects of a high-fat diet during lactation alone.

Researchers from Purdue University in Indiana studied two groups of pregnant mice. One group was given a high-fat diet during gestation and the other was fed a typical diet. The research team divided the newborn mice pups into four groups:

  • born to and fed by mothers that followed a high-fat diet;
  • born to mothers that followed a high-fat diet and fed by mothers that followed a typical diet;
  • born to typical-diet mothers and fed by high-fat-diet mothers; and
  • born to and fed by normal-diet mothers.

The researchers found that the milk made by mice following a high-fat diet had a higher fat content. In addition, the researchers observed changes in both messenger RNA (mRNA), which delivers coded information from DNA to protein-making cells, and miRNA-;non-coded genetic material involved with metabolism, cell death and nervous system function. More than 1,500 mRNA genes and 25 miRNAs expressed differently in the milk of the mothers on a high-fat diet during lactation compared to the milk produced by mothers on a typical diet. These changes could potentially affect the development of the newborns and put them at higher risk for chronic disease as adults. "Further, miRNA and mRNA only make up a portion of RNAs secreted in the milk and future studies will be needed to describe other species of RNAs [in breast milk] and their potential roles," the researchers wrote.