Scientists Simplifying Science

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September 2017

Autistic individuals less startled by the unexpected

in That Makes Sense by

Autism, originating from the Greek word ‘autos’ meaning self was coined by the Swiss psychiatrist Eugen Bleuler to describe a subset of schizophrenic patients who were particularly self-absorbed and socially withdrawn. Currently, Autism Spectrum Disorder (ASD), refers to a neurodevelopmental condition with core symptoms of social disinterest, communication deficits, and overly-focused or repetitive behavior. People with ASD are intolerant to change and crave routineness. In this context, it is interesting to note that adults with ASD are less surprised by the unexpected!

 

 

Expectations and beliefs pretty much drive the way we function and respond to the world.

Any kind of violation in our belief systems normally throws us off guard, and a frequent violation would force us to rethink and amend our expectations. For example, you enter your room and notice scribbles all over the walls. Your normal reaction would probably be that of surprise, but if you have kids around, you update your expectations accordingly. In ASD adults, this whole update mechanism appears to be compromised. Through a battery of tests and computational modeling, a recent study published in Nature Neuroscience showed that ASD individuals overestimate the volatility of their sensory environments. They have an impaired ability to learn from changes and subsequently build/ update expectations. The lesser the degree of surprise to sudden changes, the higher is the disorder’s severity. Behavior, in ASD cases, is driven more by senses than prior expectations or beliefs – something that normal individuals would exhibit only in unstable situations. In other words, autistic individuals act as they view and are less guided by higher order cognitive or social processes like learning and building stable expectations. This could also explain their predisposition to sensory overload and enhanced perceptual functioning.

 

One might think that being less susceptible to expectations and beliefs is great in a dynamic, ever-evolving world. On the contrary, the inability to build a stable belief system could be a problem – one of them being impaired viewing and interacting with others, a key ASD trait. Interestingly, the study revealed a connection between communication difficulties and building visual expectations as well; further research is necessary to understand this relationship better. Thus, this study puts quite a few points about ASD in perspective as represented by the diagram below.

Reference:

  1. Rebecca P Lawson, Christoph Mathys, Geraint Rees. Adults with autism overestimate the volatility of the sensory environmentNature Neuroscience, 2017; DOI: 1038/nn.4615
  2. http://www.autism.org.uk/sensory
  3. Mukerji Cora, Mottron Laurent, McPartland James C. Enhanced Perceptual Functioning. Encyclopedia of Autism Spectrum Disorders, 2013

Featured image: Youtube

 

About the author:

 Saikata Sengupta is currently pursuing her Ph.D. from Department of Neurology at Friedrich Schiller University, Germany. You can follow her on Linkedin or Twitter

Editors: Sushama Sivakumar, pHD

Manoja Eswara, Ph.D.

Sushama Sivakumar did her Ph.D. from University of Oklahoma Health Sci. Ctr., USA and is currently doing her postdoctoral research work at UT Southwestern medical center, USA.

Manoja Eswara did her Ph. D. from University of Guelph, Canada and is currently doing her postdoctoral fellowship in Cancer Epigenetics at Lunenfeld Tanenbaum Research Institute, Toronto, Canada.

Meet the STEM Peers-Part 4

in ClubSciWri by

With less than two weeks to go for STEM Peers, we will catch up with our STEM peers who are traveling from as close as Worcester (MA, USA) to as far as Chennai (India).
So let’s know more about Vidhi Thakkar (who is traveling from Atlanta, GA), Parthiban Srinivasan (who is traveling from Chennai, India), Jagan Srinivasan (who is traveling from Worcester, MA) and Sutirtha Datta (who is traveling from New York, NY) and find out about their reasons of joining us for STEM Peers.

Why do I want to attend STEM Peers 2017?

Vidhi is a final year PhD student in Life sciences at The institute of biomedical sciences, Georgia State University, USA. She is planning to graduate by May 2018. She did her bachelor’s in pharmacy (B.Pharm) from India and then came to GSU right after bachelor’s to do her Master’s and PhD. She is looking to transition into career fields that will not make her stuck to a wet-lab or in front of a computer. So, she has been looking into Field application Scientist and MSL positions and trying to build her resume accordingly. Since she does not have any internship/industry experience in these fields, she wants to be proactive and look for her options right away.
She is really looking forward to connect/network with people that will give her insight into the job market and she thinks that STEMPeers will be a huge step towards helping her with her career choice.

Vidhi attended the Experimental biology 2017 conference in Chicago which helped her weigh out her career choices after PhD. The conference had many career development seminars and workshops. It helped her to choose her ideal career and she explored the many myths that surround career options for PhD’s. Job hunting by Bill Lindstaedt and Beyond the bench by Joe Tringali stood out for her. As she always mentions that such career seminars and one-on-one interactions/advice in CSG and ClubSciWri is like a world full of support outside her small world in the lab!

 

Why do I want to attend STEM Peers 2017?

Parthiban Srinivasan, An entrepreneur, businessman, film maker and a scientist. Lives in Chennai. Traveled frequently in Europe and USA. Masters and PhD from Indian Institute of Science (Chemistry to Engineering to Life Sciences and now switching over to Artificial Intelligence). Yes, my next innings will be in AI. Ground work is in progress. Past affiliations include Parthys Reverse Informatics, Jubilant Biosys, GvkBio as business unit head and as researcher at AstraZeneca, NASA Ames Research Center and Weizmann Institute of Science. As soon as I heard this meet few months ago, I planned my next USA trip to complete with STEMpeers and managed to plan that way. All of us know the industry landscape is changing. And would like to see/hear how our friends are planning for the new environment. As I took a break for the last couple of years and as I am getting back and starting from ground zero, this meeting will be a good beginning for my second innings. And in my new ecosystem, would love to see CSG to be part of it and it is already there. Other than the core pillars of CSG, I have not met other contributors of the forum. This will be a great opportunity to meet them and say “hi” to them.

 

Jagan Srinivasan: Panelist on Academic Careers

Professor Srinivasan was born and raised in India. He completed his undergraduate course work at the University of Chennai earning a BS in Zoology and Chemistry. He then moved on to his MS at Goa University completing a degree in Marine Biology and Biotechnology. Professor Srinivasan thereupon relocated to Tuebingen, Germany where he completed his Ph.D in Genetics at the Max Planck Institute for Developmental Biology. His postdoctoral research soon after sent him to Pasadena, California where he studied the evolution of behavior in C. elegans and small-molecule metabolites regulating social behaviors in C. elegans at Caltech. After his time in Pasadena, in 2012, he moved to the opposite side of the country where he now is an Assistant Professor at Worcester Polytechnic Institute in Worcester, MA. While simultaneously teaching classes he also focuses on researching brain process signaling and social behaviors using the model system C. elegans.

 

Sutirtha Datta: Panelist on Science Communication and Management Careers

I completed my PhD in biochemistry and molecular genetics at University of Virginia, Charlottesville.  For my post-doctoral studies, I joined the cell biology department at Memorial Sloan Kettering Cancer Center (MSKCC), New York. Since January 2015, I am working as a clinical coordinator at the Clinical Trials Office,  MSKCC. As a study coordinator I handled various aspects of managing a clinical trial, both therapeutic and non-therapeutic,  including patient management, data science and regulatory affairs while maintaining constant communication with  industry sponsors regarding the progress of the trials. Recently I accepted the position of a Sr. Clinical Research Associate in the same department where in addition to managing clinical trials I also play leadership roles related to designing, monitoring and correction of workflows and supervising clinical coordinators.

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Hey, DNA – what can you tell me?

in SciBiz by

DNA. A mere three-letter word. The power that lies within though is beyond phenomenal, and we have only started to unwind the marvels of its intricacies. We have come a long way since the discovery of the DNA in 1953. We undertook the ambitious human genome project in 1990[1], which took us 13 years and 3 billion dollars to complete. Only 20 years have gone by and today, we are already planning $100-$1000 genomes.

The tiny 0.1% difference that exists between you and me is the magic that makes you, you and me, me. It defines the colors of our eyes, the different shades of our skin, our differing hair tones and whether we have that little dimple when we smile. Isn’t it remarkable that this tiny difference is all that makes us so distinctly different and so beautifully unique?

So much packed within the DNA. So much we know about it and yet so little do we.

But what use is all this sequencing and technology if we can’t use it to better our lives and of those around us? This article is a modest attempt to condense and highlight the various types of genetic tests and how we can use them. Isn’t it time to listen to what our DNA is telling us?

There are different things our DNA can tell us, as we grow within the comfort of our mother’s womb, and as we grow through adulthood and become parents ourselves. At all these stages, we can ask our DNA different questions – and get different answers.

Even before we plan to conceive a baby, we can choose to check whether we are “carriers” of a specific genetic mutation, one that we might pass on to our children (carrier testing)[2]. Carriers may not be symptomatic of the disease, and hence, these traits can secretly pass through generations without ever being detected, much like a silent volcano under the sea. Carrier testing is relevant to individuals with a family history of a certain genetic disorder. Even though there are hundreds of recessive genetic disorders, most of them are very rare. However, certain ethnic groups have an increased risk of specific genetic conditions[3]. Individuals who are carriers have a 25% chance, in each pregnancy, of having a child with that specific autosomal recessive disorder[4].

If DNA gives a discomforting answer in the carrier test, a couple can opt for preimplantation testing[5] or preimplantation genetic diagnosis (PGD)[6]. PGD is a specialized technique used during embryo selection during in vitro fertilization (IVF). IVF involves removing egg cells from a woman’s ovaries and fertilizing them with sperm cells in vitro (outside the body). In preimplantation testing, genetic mutations are tested for in a small number of cells taken from these embryos. Only unaffected embryos are implanted in the uterus to initiate a pregnancy, lowering the risk of having a child with a particular genetic or chromosomal disorder[7].

Once in the 1st or 2nd trimester of pregnancy, prenatal testing[8] may be performed, if there is an increased risk that the fetus might have a genetic or chromosomal disorder.  Prenatal tests can help identify whether your baby is more or less likely to have inherited genetic disorders[9].

9 months later, a baby enters the world. As precious as it is, so much more important is to do newborn screening[10]. Internationally recognized as an important preventative health program, newborn screening aids in early detection, diagnosis and treatment of certain genetic, metabolic and even infectious congenital disorders, significantly reducing disease development, associated disabilities and mortality rates. Although the newborn disorders being screened varies between hospitals, these four most common genetic diseases are often included:  1. Phenylketonuria (PKU), 2. Congenital Hypothyroidism (CH), 3. Galactosemia (GAL) and 4. Sickle Cell Disease.

The answers we get from prenatal and newborn screening have helped dramatically reduce the rates of morbidity and mortality of babies with genetic disorders all around the world.

Disorders sometimes only appear after birth, often at later stages in life. Predictive testing[11] can help identify mutations that increase a person’s risk of developing genetic disorders, such as certain types of cancer. Presymptomatic testing[12] may aid in determining whether a person will develop a genetic disorder before any signs or symptoms appear. These tests are not to be taken lightly due to the implications of their results. The answers from these DNA tests can provide information about a person’s risk of developing a particular disease and help to make informed decisions about future medical care.

Sometimes, particular conditions can only be predicted or suspected based on physical signs and symptoms. That’s when diagnostic testing[13] can act as an additional tool to identify and confirm a diagnosis. The results from this type of testing can help one make informed choices about health and management of the disorder, much like carrier testing.

Talking about health and management, DNA testing like pharmacogenomics (PGx) testing[14] is challenging our current medical paradigm of “one size fits all”. Naturally, not all of us react the same way to medications (think alcohol or caffeine). In fact, drugs can be ineffective for up to 95% of patients (for example. high cholesterol medications)[15]. Knowing our DNA and what it encodes for might just be a step closer in personalizing medicine specific to any individual. Optimizing treatments based on our DNA eliminates the need for the long and tiring “trial and error” methods of prescribing, reduces the risk of potential side effects and improves therapeutic efficacy.

As much as our DNA can guide us in planning and managing our lives better, it also offers some playful information, making us connect with our past – centuries of our past, embedded somewhere in the DNA we carry within. Genetic ancestry testing[16] offers great predictions about where an individual’s ancestors might have come from and about relationships between families. As smart as it is, DNA can sometimes leave traces too – specific patterns of genetic variations are frequently found in people of similar backgrounds and the more closely related we are (families, populations, etc.), the more patterns of variations we would share. However, there are various limitations as well due to a limited database of genetic variants on specific ethnicities and human migrations, for example.

All these give an idea of how serious answers may be as we seek our genes.

However, DNA certainly has a fun side to it too. Why not have fun with some “Recreational DNA testing”? The triple helix is not always serious, for it is able to tell if you might have athletic genes, can recommend a great wine for you, guide your fat loss and even help in optimizing your sleep, to name a few.

Throughout our lives, we can keep asking our DNA for answers. Some of which we might get and some of which we will not. Some of which are serious, some of which are silly, some of which are just reflecting its playful nature and some, it’s secret side. DNA is after all, only a part of us and we are what it is.


About Mathura:

Mathura Shanmugasundaram, PhD is a geneticist who is deeply passionate about personalized medicine and believes in using advances in science and technology to optimize and improve healthcare.

 

 

Editors: Sayantan Chakraborty, PhD, Rituparna Chakrabarti, PhD and Sushama Sivakumar, PhD

Illustration: Fuzzy Synapse


[1] https://www.genome.gov/10001772/all-about-the–human-genome-project-hgp/

[2] “Genetic Screening Tests – Autosomal Recessive Diseases”. OB/GYN Specialists of Palm Beaches, P.A.

[3] The American college of Obstericians and Gynecologists, Carrier Screening for Genetic Conditions, Number 691, March 2017

[4] NIH Genetics Home Reference: https://ghr.nlm.nih.gov/

[5] Brezina PR and Kutteh WH (2015). Clinical applications of preimplantation genetic testing. BMJ 19:350, 7611.

[6] Harper JC. Introduction. Harper JC, Delhanty JDA, Handyside AH, eds. Preimplantation Genetic Diagnosis. London, UK: John Wiley & Sons; 2001. 3-12.

[7] American pregnancy association: http://americanpregnancy.org/infertility/preimplantation-genetic-diagnosis/

[8] Latendresse G and Deneris A (2015). An update on current prenatal testing options: first trimester and noninvasive prenatal testing. 60: 24-36.

[10] Centers for Disease Control and Prevention: https://www.cdc.gov/newbornscreening/

[11] Mitchell PB et al., Predictive and diagnostic genetic testing in psychiatry. Psychiatr Clin North Am. 2010; 33(1): 225-43

[12] Genetic Diagnosis and Testing in Clinical Practice. 2006. Clinc Med Res (4): 123-129.

[13] http://emedicine.medscape.com/article/773832-overview

[14] Relling MV and Evans WE (2015). Pharmacogenomics in the clinic.  Nature (52): 43-350.

[15] Schork, N (2015). Personalized medicine: Time for one-person trials. Nature. 520, 609-611.

[16] Kirkpatrick BE and Rashkin MD (2017). Ancestry Testing and the Practice of Genetic Counseling. J Genet Couns. 26: 6-20.

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