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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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Women who have high-risk pregnancies or complications in childbirth are up to eight times more likely to suffer heart disease later in life. And many mothers — and their doctors — are unaware of the danger.

Emerging research shows heart disease is a long-term threat for women who develop diabetes or high blood pressure during pregnancy, for example, or those whose babies are born prematurely or precariously small.

Yet doctors do not typically advise women about their risk or counsel them to watch for symptoms, said Noel Bairey Merz, a cardiologist and director of the Barbra Streisand Women’s Heart Center at Cedars-Sinai Heart Institute in Los Angeles.

Bairey Merz said doctors can see heart attacks and strokes coming, often 10 or 20 years ahead of time, if they are on the lookout. "This isn't rocket science," she said. "We just have to figure out how we can find the women who are at risk."

Heightened awareness of the link between pregnancy complications and heart disease is prompting greater outreach to the public and collaborative research between cardiologists and obstetricians. That could help "make tremendous strides toward reducing and preventing heart disease in women," said Bairey Merz.

Cedars-Sinai recently started following a small group of women who've had pregnancy or labor complications to further explore the heart disease connection. In a separate study, Bairey Merz and other researchers funded by the National Institutes of Health are tracking 5,000 new moms at eight sites nationwide — including Cedars — to fill gaps in knowledge about heart health and develop recommendations for physicians.

 

Sperm concentrations (SCs) declined by more than half between 1973 and 2011 among men from North America, Europe, Australia, and New Zealand, according to a systematic review and meta-regression analysis.

Among unselected western studies (in men who were "unselected by fertility" vs those who were "fertile"), the mean SC declined 1.4% a year, leading to a drop of 52.4% in the 38-year period. Trends for total SC (TSC) were similar, with an average drop in mean TSC of 1.6% a year, for a decline of 59.3% during the period.

There were no significant trends among the "unselected other" (unselected men from South America, Asia, and Africa) group and the "fertile other" (fertile men from South America, Asia, and Africa) group.

"Because of the significant public health implications of these results, research on the causes of this continuing decline is urgently needed," Hagai Levine, MD, MPH, from the Braun School of Public Health and Community Medicine at Hadassah-Hebrew University in Jerusalem, Israel, and colleagues, write.

The findings are published online July 25 in Human Reproduction Update .

 

The decline means an increasing proportion of men in western countries are dropping to subfertile or infertile classifications.

"The high proportion of men from western countries with concentration below 40 million/ml is particularly concerning given the evidence that SC below this threshold is associated with a decreased monthly probability of conception," the researchers write.

 These slopes held true after adjustment for such factors as age, ejaculation abstinence time, methods of collecting semen and counting sperm, selection of population, and exclusion criteria and in multiple sensitivity analyses, the authors write.

The meta-regression analysis considered 185 studies, on the basis of samples collected between 1973 and 2011 from 42,935 men. Data came from 6 continents and 50 countries.

 

 


The study “Father Loss and Child Telomere Length” will be published in the August issue of “Pediatrics” from the American Academy of Pediatrics.

The 9-year-olds who were separated from their fathers had an average of 14 percent shorter telomeres — that’s the protective portion of the DNA at the ends of the chromosomes.

These telomeres naturally shorten with age. At some point, cell division stops when the telomeres are shortened enough. The concern is that having shorter telomeres might mean that your health or lifespan might be affected.

 

The biggest effect researchers saw was in the kids who had experienced a father’s death. Those kids had 16 percent shorter telomeres. Incarceration led to 10 percent shorter telomers and separation or divorce, 6 percent shorter.  How short the telomeres were in the kids who had experience divorce or separation depended on the extent of income loss. The children whose fathers had died or been incarcerated didn’t vary by income loss.

What does all this mean? Children are affected by the loss of their fathers. They need you, Dad.


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Genome therapy with beneficial natural mutation could lead to new treatment for life-threatening blood disorders.

By introducing a beneficial natural mutation into blood cells using the gene-editing technique CRISPR, a UNSW Sydney-led team of scientists has been able to switch on production of fetal hemoglobin - an advance that could eventually lead to a cure for sickle cell anemia and other blood disorders.

People with thalassaemia or sickle cell anemia have damaged adult hemoglobin - the vital molecule that picks up oxygen in the lungs and transports it around the body - and they require life-long treatment with blood transfusions and medication.

However, people with these diseases who also carry the beneficial natural mutation - known as British-198 - have reduced symptoms, because the mutation switches on the fetal hemoglobin gene that is normally turned off after birth.

The extra fetal hemoglobin in their blood, which has a very strong affinity for oxygen, does the work of the defective adult hemoglobin.

"With CRISPR gene-editing we can now precisely cut and alter single genes within our vast genome," says study senior author and UNSW molecular biologist Professor Merlin Crossley.

"Our laboratory has shown that introducing the beneficial mutation British-198 into blood cells using this technology substantially boosts their production of fetal hemoglobin.

"Because this mutation already exists in nature and is benign, this 'organic gene therapy' approach should be effective and safe to use to treat, and possibly cure, serious blood disorders. However, more research is still needed before it can be tested in people," he says.

 


Hitchhiker's thumb is otherwise known as distal hyperextensibility of the thumb. This is because of the genetic traits that make a person bend his thumb backward while stretching.

The distal joint plays an important role in keeping the thumb straight. When the distal joint hyperextends, it enables the thumb to bend backward, creating the hitchhiker's thumb. Having a hitchhiker's thumb is neither an advantage nor a disadvantage. This type of bending does not affect the functions of the thumb nor causes any pain to it.

Bendy Thumb Gene

In the human genetic pattern, there are a number of genes that determine the size, shape, and color of a person. The gene that controls the extendibility of the thumb is known as the "Bendy thumb gene." The bendy thumb gene comprises of multiple alleles in the chromosomes. One allele from the bendy thumb gene can produce a straight thumb and another allele may produce a hitchhiker's thumb. It all depends on what allele people receive from their parents.

Phenotype

The group of genes that is responsible for a trait is known as a genotype, with the characteristic of that particular trait called a phenotype. Hitchhiker's thumb is not to be considered as a genetic condition or disorder, but is a result of the phenotype. Phenotype consists of traits that influence the appearance and behavior of a person. Traits are alleles that help in the formation of chromosomes and fall into two categories: dominant traits and recessive traits.

  • Dominant traits: When alleles combine together, some become stronger than the others. This stronger allele is responsible for the dominant trait. A person with dominant traits will have a straight thumb, which can only be folded toward the palm.
  • Recessive Traits: Dominant alleles can be found in all organisms. In case the dominant allele fails to show its presence, the recessive allele will be expressed. These are known as recessive traits. A person with recessive traits will have a hitchhiker thumb that can be folded to the back of the hand. Meanwhile, a person has a hitchhiker thumb only when he receives two recessive alleles from the parents.

Let us assume “S” to be the dominant allele and “s” to be the recessive allele. If a person is born with the “ss” genotype, then they will have a hitchhiker's thumb. A person born with the “Ss” genotype will have a straight thumb, but will also be a bearer of the hitchhiker's thumb. A person born with an "SS" genotype will only have a straight thumb and no chances for having the condition of the hitchhiker.

 
 

There’s something fishy going on. Juvenile Atlantic salmon with shorter telomeres – normally considered a sign of poor health – have a higher chance of surviving the epic migration from their home river to the sea and back again.

Telomeres act as caps on the ends of chromosomes, preserving the DNA after cells divide. But the telomeres shorten with each division and eventually become so short the cells can’t divide any more. In humans, shortened telomeresare associated with cardiovascular diseases and cancer in adults, and are thought to reflect overall cell ageing and health.

No wonder Darryl McLennan at the University of Glasgow, UK, and his colleagues were puzzled by their results. In the spring of 2013, McLennan’s team tagged over 1800 juvenile salmon, or smolts, in the Blackwater river in northern Scotland just before they migrated to sea. The team also took a small fin tissue sample from each fish to measure the telomeres.

 

 

In the autumn of 2014 and 2015, when McLennan expected the salmon to return to the river to spawn, his team trapped the tagged fish and took a follow-up fin tissue sample to measure telomere length. Only 21 of the original salmon remained and the survivors were significantly more likely to have shorter telomeres than when they began their migration.

Shorter lifespan

“When we started this project we hypothesised the juvenile salmon with shorter telomeres would have a reduced lifespan and found the complete opposite,” he says.

It’s an unexpected result, but Terry Burke at the University of Sheffield, UK, points out that the analysis ultimately relies on data from very few of the original salmon: only about 1 per cent made it back to spawn. He would like to see the study replicated before we can say with any confidence that young salmon with shorter telomeres outperform their peers carrying longer versions.

But Kjetil Hindar at the Norwegian Institute for Nature Research in Trondheim is not surprised by the dismally low survival rate. He says it’s the same return rate he sees in Norway these days. “Salmon survival at sea is much lower now than it was thirty years ago,” he says. “We had twice as many fish returning in the ’80s.”

A migrating salmon’s life isn’t easy. While it is one of the world’s most studied fish species, we know relatively little about what happens to salmon at sea. Ultimately, predation from coastal birds and larger marine fish, coupled with higher levels of fishing, mean that very few ever make it back to their freshwater birthplace.

Fishy telomeres

Burke says it’s nice to see this kind of telomere work being done with fish – most often these studies examining life history are done with humans and birds. But he points out that there might be other reasons to explain why McLennan’s team found a result that runs contrary to popular wisdom. “We’re not observing these fish dying from illness, but mostly from predation or being caught at sea,” he says. “So there’s a different kind of selection operating here than on humans. The salmon aren’t living long enough to die of old age.”

McLennan’s has his own ideas about why fish with shorter telomeres seem to fare better. Salmon have to undergo physiological changes to prepare themselves for both the taxing migration and the challenge of moving from a freshwater to a marine environment – for example, altering their gills to deal with higher levels of salt. McLennan thinks that fish who invest more energy into preparing themselves for life at sea do so at the cost of maintaining their telomere length. What’s more, unlike humans, fish can repair their telomeres.

Whatever the ultimate outcome of the research, McLennan thinks the salmon are evidence that we need a better understanding of telomeres’ role as proxies for ageing and cellular health. “Telomere dynamics are not universal,” says McLennan. “You need to focus on the species you’re interested in because telomeres tell you different things depending on what species you’re looking at.”

Journal reference: Functional EcologyDOI: 10.1111/1365-2435.12939

 

Not smoking, drinking moderately, and maintaining a healthy weight can add years of disability-free life, researchers have found.

Their analysis used 1998 to 2012 data from the National Health and Retirement Study from nearly 15,000 Americans aged 50 to 89 years.

The healthier cohort had never smoked cigarettes, were not obese (body mass index between 18.5 and 29.9 kg/m2), and drank alcohol in moderation (fewer than 14 drinks a week for men and fewer than 7 for women). Compared with the entire US population, they had a life expectancy at age 50 years that was 7 years longer and an onset of disability that was delayed by up to 6 years.

Current US life expectancy is 78 years for men and 82 years for women, but for the low-risk group in this study, life expectancies were 85 and 89 years, respectively.

 

The findings by Neil Mehta, PhD, an assistant professor in the Department of Health Management and Policy at the University of Michigan in Ann Arbor, and Mikko Myrskylä, PhD, director of the Max Planck Institute for Demographic Research, Rostock, Germany, were published online July 19 in Health Affairs.

"The findings indicate the magnitude of health gains that could be achieved if more Americans adopted low-risk behaviors," they write.

Previous research has focused on the health effects of a single behavior, such as smoking or drinking too much alcohol.

"Studying the effect of multiple health behaviors exercised simultaneously provides new insights into levels of health that are achievable without novel life-extending medical technologies," the authors write.

 

 


Kids who become overweight during their teenage years may be more likely to develop a stroke decades later than kids who did not become overweight during those years, according to a study published in the June 28, 2017, online issue of Neurology, the medical journal of the American Academy of Neurology.

"The stroke rate has been increasing among young adults even while it has been decreasing for older people," said study author Jenny M. Kindblom, MD, PhD, of the University of Gothenburg in Sweden. "While we don't know the reasons for this increase, it has occurred at the same time as the obesity epidemic."

The study involved 37,669 Swedish men whose body mass index (BMI) was measured at age 8 and again at age 20. From age 20, they were followed for an average of 38 years. During that time, 918 men had strokes.

Men with excessive BMI increase from childhood to age 20 had a higher risk of stroke than men with average BMI increase. For every two-point increase in BMI, men were 20 percent more likely to have a stroke.

Men who were normal weight at age 8 but overweight at age 20 were 80 percent more likely to have a stroke. Of the 1,800 in this group, 67 had a stroke, or 3.7 percent.

Men who were overweight at both time points were 70 percent more likely to have a stroke. Of the 990 people in this group, 36 had a stroke, or 3.6 percent.

BMI at childhood was not on its own associated with an increased risk of stroke. Men who were of normal weight at both age 8 and age 20 and men who were overweight at age 8 but normal weight at age 20 did not have any increased risk of stroke. Of the 33,511 men who were of normal weight both at age 8 and age 20, 779 had a stroke during the study, or 2.3 percent. Of the 1,368 men who were overweight at age 8 and normal weight at age 20, 36 had a stroke, or 2.6 percent.

 


Bottom Line: Scientists have found a single protein--Ptbp2--controls a network of over 200 genes central to how developing sperm move and communicate. The protein works by regulating how RNA is processed during each stage of sperm development.

Journal in Which the Study was Published: Cell Reports

Author: Donny Licatalosi, PhD, Assistant Professor in the Center for RNA Science and Therapeutics at Case Western Reserve University School of Medicine.

Background: Developing sperm are constantly chopping and trimming their genetic material. This process--"splicing"--allows the cells to select genes required for each developmental stage. Splicing produces small, trimmed pieces of RNA that serve as protein blueprints. By using different trimming patterns--"alternative splicing"--the cells can create multiple protein blueprints from a single gene.

Developing sperm use alternative splicing techniques more than other cell types. This produces high levels of alternatively spliced RNA fragments inside sperm progenitor cells, also called germ cells. Scientists are not sure how or why germ cells use alternative splicing at such a high rate.

"The importance of RNA splicing in sperm development has been a longstanding question," Licatalosi said. "We've known for decades that more alternatively spliced RNAs are made during germ cell development compared to most other developmental systems. But whether this is a tightly regulated process, or even a biologically meaningful one, is unclear."

Licatalosi's team is investigating how alternative splicing is controlled during sperm development. Their work focused on a protein--Ptbp2--that attaches to RNA near splicing sites. Understanding RNA splicing in germ cells could help researchers better understand mechanisms behind developmental defects in humans.


The ability to digitize images formed from glass slides has been a huge development in pathology. Large numbers of tissue samples on slides can be scanned and archived digitally. Digital images can now be sent instantly to remote locations making primary diagnoses and consultations for second opinions easier to obtain. Moreover, digital pathology has aided research and education as example tissue slide images can be archived and used repeatedly. It should be noted that digital pathology is not yet widespread but advances in digital pathology may soon change that.

The Advent of Whole Slide Imaging

Whole slide imaging is the ability to scan glass slides in order to produce digital images and has advanced slide imaging beyond the use of simple cameras.  It requires a two step process:

  1. A scanner is first used to digitize the glass slide, creating a large and representative digital slide.
  2. Specialized software is then required to view the digital image. The software is often called a virtual slide viewer.

Prior to whole slide imaging, microscope-mounted cameras could only capture specific areas of the slide and therefore had limited clinical application. An early virtual microscope combined a robotic computer system to microscopy and was able to scan the glass slide to form a series of mosaic image tiles that could be compiled to form the full slide image. This application was limited by a lengthy scan time length. Modern whole slide imaging was formed by the utilization of automated, high speed image capture systems. Glass slides can now be scanned in less than a minute and produce high resolution digital images.

Furthermore, whole slide imaging technology can be automated with continuous processing. This means that a slide can be uploaded whilst another is being scanned. The labelling of slides is also made easier as the scanners are able to read one and two dimensional barcodes that can be added to glass slides. Some modern whole slide imaging systems can digitize slides at various vertical focal planes so that there is no loss of precision in comparison to the fine focus control of a standard microscope.

 

 

 


Similar to the human eyes, nose, and lips, the earlobes also have special features. Although the human ears look similar, there are minor structural differences that make each ear different from the other.

The major form of the gene that determines the shape of the earlobe is known as an allele. An allele is a gene which is found at a specific position on a chromosome. It has been established that all genes in our body have two copies; one from each parent.

Types of Earlobes

An earlobe is made up of connective tissues combined with a mixture of areola tissues and fat cells. Earlobes have a good blood supply which help in keeping them warm and maintaining balance. Majorly, there are two types of earlobes found in humans - free earlobes and attached earlobes.

Free Earlobes: Free earlobes are the most common form of lobes found. This type of earlobe is often large and hangs below the point of attachment to the head. This happens due to the influence of a dominant allele. If the genes from the parents get expressed by the dominant allele, then the child will be born with free earlobes.

In most cases, the allele is regnant to the free lobes compared to attached lobes. The free earlobe parents can also give birth to an attached earlobe child, depending on the reaction of the allele gene. If parents with free earlobes give birth to a baby with attached earlobes, it is certain that both of them had both a copy of the dominant and recessive allele.


A new study conducted by an international team of lung cancer researchers, including Professor John Field from the University of Liverpool, have identified new genetic variants for lung cancer risk.

Lung cancer continues to be the leading cause of cancer mortality worldwide. Although tobacco smoking is the main risk factor, variations in a person's genetic makeup have been estimated to be responsible for approximately 12% of cases. However, the exact details of these variations have been previously unknown.

Genotyping is the process of determining differences in the genetic make-up (genotype) of an individual by examining the individual's DNA sequence.

Largest study of this type

By gathering genotype data from different studies around the world, through the use of a special research platform called OncoArray, researchers were able to increase the sample size for this study making it the largest one of its type in the world. The Liverpool Lung Project, funded by the Roy Castle Foundation, has made a major contribution to this international project.

Researchers examined the data to identify the genetic variants associated with lung cancer risk.

During the study, published in Nature Genetics, more than 29,200 lung cancer cases and more than 56,000 samples taken from people without lung cancer (controls) were examined. Researchers identified 18 genetic variations that could make people more susceptible to lung cancer and also 10 new gene variations.