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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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A new study has found certain genes that predispose a person to develop insomnia or sleep problems. This was one of the largest genome wide studies undertaken on insomnia. The study led by psychiatrist Murray Stein from the University of California San Diego was published in the latest issue of the journal Molecular Psychiatry.

Insomnia affects around 30 percent of Americans in the short term and 10 percent Americans have chronic insomnia. Sleep problems lasting for at least a month is termed chronic insomnia. Stress, abnormal working schedules, lack of activity etc. are associated with sleep problems.

The study authors write that one in five Americans have sleep problems that can range from mild to severe. An adult requires 7 to 9 hours of sleep each night to remain healthy. Sleep problems are particularly worse among US military veterans who are twice as likely to suffer from sleep disorders. It is because of this higher propensity of veterans to suffer from insomnia that the study included data from the “Army Study To Assess Risk and Resilience in Service members (STARRS)” including data for mental health risk among the US military personnel. DNA samples were obtained from the over 33000 participants. Stein and his team then conducted a genome-wide association study (GWAS) to look at the connection between insomnia and genetic traits. They then compared the obtained genomic data with genetic data from 500000 individuals from the US Biobank.


Genetic anticipation is a phenomenon in which the signs and symptoms of genetic conditions become more severe and/or appear at an earlier age, as they are passed from one generation to the next.

Genetic anticipation is an unusual type of genetic inheritance in which there is a progressive increase in the severity of a mutation, and sometimes in the probability that a given mutation will result in a disease, as it is passed from parents to their offspring.

This pattern of inheritance has been observed in a number of genetic diseases, including the neuromuscular and neurodegenerative disorders listed below:

  • Fragile X syndrome
  • Myotonic dystrophy
  • Huntington’s disease
  • Spinal and bulbar muscular atrophy
  • Spinocerebellar ataxia type I
  • Dentatorubral-pallidoluysian atrophy

The full mechanism underlying genetic anticipation is largely unknown, but the phenomenon has most notably been associated with a particular type of mutation, known as trinucleotide repeat expansions.

However, other proposed explanations for this phenomenon include telomere shortening and non-genetic factors, such as increased surveillance for the signs and symptoms of a particular disorder.

Genetic anticipation and trinucleotide repeats

Trinucleotide repeats are simple repetitive sequences of 3 nucleotides that follow the pattern of CNG, where N can be any nucleotide. They can be found throughout the human genome, within both coding and non-coding sequences of DNA. It is generally thought that the unusual structural features of these repeat sequences make them unstable and prone to replication errors during cell division.

It is also believed that these repeat sequences are able to form what is known as ‘slipped-stranded DNA’, which is the misalignment of two complementary strands of DNA during replication. This misalignment allows the trinucleotide repeat sequences to be looped-out and trapped within hairpin structures (in one of the strands).  

This hairpin structure is thought to stabilize the misaligned DNA strands and after a further round of replication, the result is an increase in the number of repeat sequences (a repeat expansion) if the hairpin formed on the ‘lagging’ strand of DNA, or a decrease in the number of repeat sequences (a repeat contraction) if the hairpin formed on the ‘template’ strand of DNA.


A new blood test developed by a University of Alberta physician promises to eliminate the guesswork clinicians face with an apparent heart attack.

The current gold standard test used for the clinical diagnosis of myocardial infarction (MI or death of heart muscle due to lack of blood supply)--the cardiac troponin blood test--doesn't indicate the extent of cardiac damage, said Peter Hwang, a clinician-scientist in the Faculty of Medicine & Dentistry at the U of A.

Cardiac troponin is a protein unique to the heart, so elevated levels in the blood indicate that the heart has been damaged, explained Hwang. After digging deeper into what's going on in the troponin release process, he found that patients with a true heart attack had more fragmented troponin than those with increased cardiac strain.

"We postulated that when cells die during a heart attack, not only would they release troponin into the bloodstream, but they would also digest the troponin through the action of activated intracellular proteases--enzymes that digest other proteins," he said.

The study included 29 inpatients from the University of Alberta Hospital and Mazankowski Heart Institute with elevated troponin levels either with known heart attacks, or other conditions that increase cardiac demand.

"As predicted, we found that the degree of proteolytic digestion increased with increasing severity of heart injury," he said.

"The highest degree was observed in patients with type 1 MI (the classic "heart attack"), where you have an acute blockage of a coronary artery, while the least degree was found in patients with type 2 MI, where the heart is just working harder."

Researchers at the Department of Energy's Lawrence Berkeley National Laboratory (Berkeley Lab) identified thirdhand smoke, the toxic residues that linger on indoor surfaces and in dust long after a cigarette has been extinguished, as a health hazard nearly 10 years ago. Now a new study has found that it also increases lung cancer risk in mice.

A team led by Antoine Snijders, Jian-Hua Mao, and Bo Hang of Berkeley Lab first reported in 2017 that brief exposure to thirdhand smoke is associated with low body weight and immune changes in juvenile mice. In a follow-up study published recently in Clinical Science, the researchers and their team have determined that early thirdhand smoke exposure is also associated with increased incidence and severity of lung cancer in mice.

Field studies in the U.S. and China have confirmed that the presence of thirdhand smoke in indoor environments is widespread, and traditional cleaning methods are not effective at removing it. Because exposure to thirdhand smoke can occur via inhalation, ingestion, or uptake through the skin, young children who crawl and put objects in their mouths are more likely to come in contact with contaminated surfaces, and are therefore the most vulnerable to thirdhand smoke's harmful effects.

In the Berkeley Lab researchers' new study, an experimental cohort of 24 A/J mice (a strain susceptible to spontaneous lung cancer development) was housed with scraps of fabric impregnated with thirdhand smoke from the age of 4 weeks to 7 weeks. The dose the mice received was estimated to be about 77 micrograms per kilogram of body weight per day - comparable to the ingestion exposure of a human toddler living in a home with smokers. Forty weeks after the last exposure, these mice were found to have an increased incidence of lung cancer (adenocarcinoma), larger tumors, and a greater number of tumors, compared to 19 control mice.

LONDON — Seven new genetic variants that could lower a person's risk of developing type 2 diabetes have been identified in an effort to understand why some people who are overweight or obese are at much lower risk of the disease than others.

The researchers, led by Hanieh Yaghootkar, MD, PhD, from the University of Exeter, UK, say that people carrying these genes have a so-called 'favorable' adiposity profile, whereby their extra fat is stored subcutaneously rather than around organs such as the liver (visceral fat).

Using data from the UK Biobank, Yaghootkar and colleagues identified 14 genetic variants associated with obesity but a lower risk of type 2 diabetes; 7 were already known and 7 are novel.

Obesity is a recognized risk factor for type 2 diabetes, but of the overall type 2 diabetes population, around half are normal weight, with some even being quite lean. And among obese patients, many do not have type 2 diabetes, explained the researcher.


"We live at a time when our environment is changing the world's population body size to its upper limit, leading to increased prevalence of type 2 diabetes. Our study provides evidence that people store fat in different places, which is genetically determined," said Yaghootkar, who presented her work here at the Diabetes UK Professional Conference 2018.

"Our study suggests that individuals with these 14 genetic factors are able to store fat in a safer place, so that despite having higher percentage body fat they are protected from type 2 diabetes, heart disease, and hypertension," she observed.

What Confers Protection From Type 2 Diabetes in Some Obese People?

Yaghootkar's work aimed to determine what confers a level of protection from type 2 diabetes in some with obesity, while conversely, what confers higher risk in some normal weight individuals.



A new study published in the journal Communications Biology has shed light on the earliest stages in the evolution of male-female differentiation and sex chromosomes--and found the genetic origins of the two sexes to be unexpectedly modest.

The research team focused on two especially informative and closely-related multicellular volvocine species from the genera Yamagishiella and Eudorina which bracket the transition from isogamy to male/female sexes. While 32-celled Yamagishiella and Eudorina colonies look very similar to each other, the former is isogamous while the latter produces small male gametes and large female gametes. The team used high-throughput genome sequencing of the chromosomal regions that specify mating type in Yamagishiella and male-female differentiation in Eudorina, and then compared these regions.

While evolutionary theory predicted an expansion and/or increased genetic complexity of the sex determining region associated with the evolution of sexes in Eudorina, the results of the study showed the opposite, with Eudorina having the most diminutive and genetically least complex sex-determining region found to date found among all volvocine species. In essence, the major difference between males and females in Eudorina could be reduced to the presence or absence of a single gene called MID that resides in a tiny chromosomal region.

"This new study punches a hole in the idea that increased genetic complexity of sex chromosomes accompanied the origin of sexes," said Umen. "Moreover, the work also has practical implications since it expands our understanding of how to identify mating types and sexes in new species of algae that we might want to breed as crops for improved traits relating to biofuel or biotechnology applications."


Scientists have linked 110 genes to an increased risk of breast cancer in the most comprehensive study ever to unpick the genetics of the disease.

Their study used a pioneering genetic technique to analyse maps of DNA regions linked to an inherited risk of breast cancer and identify the actual genes involved in raising a woman's risk.

Researchers also linked 32 of the new genes to the length of time women survived breast cancer - suggesting these could be important in the development of the disease and potential targets for future treatments.

Scientists at The Institute of Cancer Research, London, looked in detail at 63 areas of the genome that had previously been associated with the risk of breast cancer by mapping studies.

Finding the genes responsible for the increased risk is not straightforward because small sequences of DNA can interact with completely different parts of the genome through a strange phenomenon known as 'DNA looping'.

But the researchers, funded by Breast Cancer Now, used a technique they developed called Capture Hi-C to study interactions between different regions of the genome.

The study - published today (Monday) in Nature Communications - uncovered which specific genes were involved and how that might increase a woman's risk of developing breast cancer.

The team at the Breast Cancer Now Toby Robins Research Centre at The Institute of Cancer Research (ICR) found that some of the 63 regions of the genome were physically interacting with genes more than a million letters of DNA code away.

They were able to identify 110 new genes that could potentially be causing an increased risk of breast cancer across 33 of the regions they studied. In the remaining 30 areas, they were unable to find any specific genes.

One third of the target genes for which they had patient data - 32 out of 97 - were also linked to survival in women with oestrogen receptor-positive breast cancer, suggesting they play an important role in the disease.


The gene treatment reversed 20 years of one of the underlying causes of aging!

Elizabeth Parrish, the CEO of BioViva USA Inc, a biotechnology company that “aims to provide regenerative medicine to the masses through gene and cell therapies,” claims to be the first person in history to have successfully reversed one of the hallmark signs of aging with the company’s experimental gene therapy.

Before we get any further, it’s important to understand the role of telomeres in aging. Telomeres are the protective tips found at the end of each DNA strand, and without telomeres, the DNA strands become damaged and unable to do their job. When we are born, our telomeres are long, but as our cells age, the telomeres become shorter and shorter until the DNA starts accumulating damage — damage that is thought to make our bodies frail and diseased.



SEE ALSO: Deleting These 238 Genes Could Significantly Extend Your Life

So, the gene therapy that Parrish received is designed to protect against muscle mass depletion and stem cell depletion — both inherent to aging and age-related diseases. She first underwent the therapy in 2015, and while it was originally intended to prove that the company’s gene therapy was safe, she claims that the therapy successfully lengthened her telomeres — which will be a very first in world history if the technique goes on to be confirmed in peer reviews.

Telomere scores are calculated based on the length of telomeres in white blood cells (T-lymphocytes), and higher scores indicate youth. Compared to the average T-lymphocytes of the American population within the same age range as Parrish, who is 44 years old, she says that the gene therapy reversed 20 years of telomere shortening! Pretty impressive if her results get verified.

"Current therapeutics offer only marginal benefits for people suffering from diseases of ageing. Additionally, lifestyle modification has limited impact for treating these diseases. Advances in biotechnology is the best solution, and if these results are anywhere near accurate, we’ve made history," Parrish said in a statement on the BioViva site.

In the months and years to come, BioViva will continue to monitor Parrish’s blood, as well as test new gene therapies and combination gene therapies to restore age-related damage. Depending on the observations of Parrish, the researchers will be able to determine whether the success of the therapy can translate into other tissues and organs in the body, and if the effects can be safely replicated in other humans.

If the results go on to be verified by others in the scientific community, this could be revolutionary.

As stated in the release, “For now all the answers lie in the cells of Elizabeth Parrish, ‘patient zero’ of restorative gene therapy.”


New research has shown how vitamin D may help protect heart tissue and prevent heart failure after a heart attack, potentially offering a low-cost addition to existing treatments for heart failure.

The team at the Westmead Institute for Medical Research found that vitamin D prevents excessive scarring and thickening of heart tissue following a heart attack, which may help reduce the risk of heart failure.

Researchers used mouse models to investigate the impact of 1,25D, a form of vitamin D that interacts with hormones, on the cells that form scar tissue after a heart attack. These cells are called cardiac colony-forming unit fibroblasts (cCFU-Fs).

Lead researcher Associate Professor James Chong said that vitamin D was known to help protect against heart failure, but its interaction with cCFU-Fs was not well established.

"The benefits of vitamin D are becoming increasingly known, but we still don't fully understand how mechanistically it can help with heart disease management. We wanted to know more about how vitamin D protects the heart after a heart attack," Associate Professor Chong explained.

Heart attacks occur when blood supply to the heart is blocked, leading to tissue damage. This triggers an inflammatory response where the cCFU-Fs replace the damaged tissue with collagen-based scar tissue.

"This is a problem because scarring of heart tissue can reduce the heart's ability to pump blood effectively, which can lead to heart failure," Associate Professor Chong said.

"Our research shows that vitamin D actually blocks the cCFU-Fs from forming scar tissue. By blocking cCFU-Fs, vitamin D may play an important role in lowering the risk of heart failure after a heart attack."

Heart failure is a life-threatening condition affecting an estimated 23 million people worldwide. Associate Professor Chong said that new treatments are necessary to reduce the global burden of heart failure.


A panel of leading experts in molecular pathology has issued new recommendations and updates to guidelines for molecular diagnostic testing of patients with lung cancer. The new guidelines reflect recent advancements, as well as decades of work, to identify the genetic underpinnings of the leading cause of cancer-related deaths worldwide. They are intended to help guide the treatment of patients around the world, and help oncologists and pathologists match patients with the most effective therapies. Based on the panel's findings, published in The Archives of Pathology & Laboratory Medicine, three leading medical societies-- the College of American Pathologists (CAP), the International Association for the Study of Lung Cancer (IASLC), and the Association for Molecular Pathology (AMP)--have updated their 2013 evidence-based guideline.

"These guidelines are intended to help improve and standardize the care of all patients who suffer from this disease," said Neal Lindeman, MD, director of Molecular Diagnostics at Brigham and Women's Hospital. "Our panel of international experts reflects the global nature of lung cancer - we hope that these updated guidelines will help providers around the world better interpret the effectiveness of therapies that are designed to target an individual cancer's genetic vulnerabilities."

Lindeman led an international, multidisciplinary panel of expert authors appointed by each of the three organizations. The panel included pathologists, oncologists, pulmonologists, a methodologist, laboratory scientists and patient representatives who collaborated to develop the guidelines by following the Institute of Medicine's evidence-based process.

The panel's findings include 18 new recommendations and three updates. These include updated recommendations regarding testing for EGFR - a gene first uncovered by investigators at BWH and elsewhere that can help determine if a patient will respond to a targeted therapy. The panel has also issued new recommendations regarding testing for several additional genes (ROS1, ERBB2, MET, BRAD, KRAS, and RET) for certain forms of cancer, or, in the case of some of these genes, as part of a next-generation sequencing panel.

The complete guideline is available online. Additionally, the CAP, IASLC and AMP developed resources to help pathologists and oncologists review and implement the guidelines, including a summary of recommendations, a teaching presentation, frequently asked questions, and a video series.

A select "guild" of gut bacteria responsible for the benefits of high-fiber diets in type 2 diabetes has been identified in a study in which those patients on the high-fiber diet showed improved control of HbA1c.

Effectively, eating the right dietary fibers may rebalance the gut microbiome and lead to reduced blood sugar and body weight, and may pave the way for a new nutritional approach to preventing and managing type 2 diabetes, say the researchers.

The specific bacteria thought to be effective produce short chain fatty acids (SCFAs).

"Targeted promotion of the active SCFA producers...via personalized nutrition may present a novel ecological approach for manipulating the gut microbiota to manage type 2 diabetes and potentially other dysbiosis-related diseases," write the authors led by Liping Zhao, PhD, from the School of Environmental and Biological Sciences, Rutgers University-New Brunswick, New Jersey.


The research was conducted in China, and was published in the March 9 issue of Science.

However, separately, in an article published online November 1, 2017, in Gut, a whole-grain diet failed to alter insulin sensitivity and the gut microbiome in healthy individuals at risk for development of metabolic syndrome. But the high-fiber diet did lead to lower body weight and less systemic low-grade inflammation.

Certain Fibers Could Become Part of the Treatment for Type 2 Diabetes

In their paper, Zhao and colleagues explain that gut microbes play a range of roles in response to food intake, and they suggest that chronic diseases, such as type 2 diabetes, may in part result from a deficiency in SCFA production from carbohydrate fermentation in the gut.



Higher waist and hip size are more strongly associated with heart attack risk than overall obesity, especially among women, according to research in Journal of the American Heart Association, the Open Access Journal of the American Heart Association/American Stroke Association.

In a study of nearly 500,000 adults (aged 40-69) from the United Kingdom, researchers found that while general obesity and obesity specifically around the abdomen each have profound harmful effects on heart attack risk in both sexes, women were more negatively impacted by higher waist circumference and waist-to-hip ratio than men.

This study suggests that the differences in the quantity and distribution of fat tissue not only results in differences in body shape between women and men, but may also have differential implications for the risk of heart attack in later life, researchers noted.

"Our findings support the notion that having proportionally more fat around the abdomen (a characteristic of the apple shape) appears to be more hazardous than more visceral fat which is generally stored around the hips (i.e., the pear shape)," said lead author Sanne Peters, Ph.D., Research Fellow in Epidemiology at the George Institute for Global Health at the University of Oxford in the United Kingdom.

Additional research on sex differences in obesity may yield insights into the biological mechanisms and could inform sex-specific interventions to treat and halt the obesity epidemic.

According to statistics in the AHA's 2018 Statistical Update, 40 percent of American women age 20 and older and 35 percent of men were considered obese in 2013-14 national surveys. Being obese puts you at a higher risk for health problems such as heart disease, stroke, high blood pressure, diabetes and certain cancers.