Category Archives: Molecular Genetics

"I didn't have any symptoms. Was getting regular tests done and was told that I should go and get this checked with an oncologist," Mahima Chaudhry recently shared about her cancer diagnosis. For early detections, doctors stress on regular check-ups and address signs and symptoms one should look out forMahima Chaudhry said she had no symptoms of breast cancer and was diagnosed during a routine check-up. Doctors address signs to look out for, and check-ups one cannot miss to detect the disease earlyOn Thursday, Mahima Chaudhry revealed that she was diagnosed with breast cancer and has made a full recovery after treatment. In a video clip on Instagram, Chaudhry spoke with Anupam Kher about her cancer diagnosis and treatment, revealing that she was diagnosed during her annual health check-up. I did not have any symptoms. I was getting my regular tests done and the person who was doing the tests said I should go and get this checked with an oncologist, Chaudhry said in the video.The actress added that while initial tests came back negative, when we did a biopsy of the entire cells that were removed, we found a tiny portion of cells had become cancerous. Doctors share that early detection of cancer is important for recovery, and that there are signs and symptoms that women can pay attention to. Stressing on the importance of self-examination and regular screenings, they also address the myths attached to breast cancer.Self-examination is ideal to detect breast lumpsSelf-breast examination is the ideal method to detect any breast lump - malignant or benign. This method does not involve any doctor or family member and is very easy. Every woman, especially after the age of 40, should do a periodic self-breast examination as this will lead to early diagnosis and treatment, says Dr Sunny Jain HOD and Sr Consultant Oncology Marengo QRG Hospital Faridabad.Make sure to use the fat pads of the fingertips of the three middle fingers. Moving in small circles slowly around your breast, work toward the nipple. Press firmly to feel deep tissues, and gently to feel tissues under the skin. Be sure to cover the entire breast without skipping any areas. Repeat for your opposite breast. If any lump or thickening is felt, consult your doctor immediately, adds Dr Ramesh Sarin, Senior Consultant, Surgical Oncologist, Indraprastha Apollo Hospital, New Delhi

What are the preventive breast cancer check-ups one should go for?The screening mammography should be done annually after the age of 40, as a preventive measure, for earliest detection of cancer. This will detect the small hidden lumps in the breast, says Dr Parveen Mendiratta, Sr Consultant Surgical Oncologist, Accord Super Speciality Hospital, Faridabad.

Every woman should start screening mammography, guided by a breast clinician or breast surgeon, yearly or every two years from the age of 40. Only biopsy of an abnormal lesion, seen on a mammogram ultrasound, can confirm if it is cancerous or pre-cancerous. Once a month, a few days after your period finishes, a woman should use her hands to check for lumps, advises Dr Kanchan Kaur, Director, Breast Surgery, Breast Cancer, Cancer Institute, Medanta Hospital Gurgaon.

Dr Uma Dangi, Consultant Medical Oncology, Fortis Hospital Mulund & Fortis Hiranandani Hospital, Vashi, shares, Any of the mentioned symptoms can be a sign of breast cancer, and it is best to get it checked. Self breast examination done once a month as mentioned starting as early as the age of 20 years can detect early lumps. Mammography once a year after the age of 45 years may help early detection. However, if you are in the high risk category, with a strong family history of cancer or a known high risk genetic mutation, you will need to undergo tests more frequently which may include mammograms and MRI of the breast.

Myths attached to breast cancerAmong the most common myths associated with breast cancer, is that the lumps are painful. That is why so many times we see patients say they didnt come sooner for a check-up because the lump did not hurt. As a result, they are diagnosed late. The second myth is that an absence of family history of cancer means it will not happen to you. But 95% women get it even if they do not have a family history, says Dr Kanchan Kaur.

Dr Parveen Mendiratta points out another myth People think that a biopsy isnt needed or that if a biopsy is done, the cancer spreads fast. That is not a fact. A biopsy should be done to confirm the cancer and earliest treatment should be given.

Dr Sunny Jain adds, Cancer does not spread by doing a biopsy or FNAC (Fine Needle Aspiration Cytology). Biopsy is the single most important test in the whole armamentarium of tests to diagnose cancer. It is the biopsy which confirms the type and grade of cancer, the proliferation index and information regarding the decision with regard to the treatment - chemotherapy, surgery, radiotherapy, hormonal therapy, immunotherapy and advancement in the research we are doing in molecular genetics to stop the cancer cell cycle at specific phase/points in the development.

Self-exams, regular check-ups & triple assessment is most importantThe most important thing is to go for regular check-ups, breast exams by your breast specialist and mammography after the age of 40-50, depending on your risk factors. Mammography is advised on a yearly basis. A certain type of microcalcification, detected during mammography, is the earliest stage that one can diagnose and almost cure completely, says Dr Ramesh Sarin.

Dr Shubham Jain adds, What Mahima also discussed in her video was triple assessment i.e. having the breast lump evaluated by three specialists. The first one she listed was the radiologist, who did an ultrasound and found something suspicious. He recommended that she visit a surgeon, who examined her and suggested a biopsy, which detected the disease.

Dont delay annual check-ups, dont ignore lumps, say celebrities who have survived breast cancerTahira KashyapTahira, 38, who was diagnosed with Stage 0 breast cancer (a type of non-invasive cancer, in which cancerous cells grow in the lining of the breast milk duct) in 2018, wrote on social media, "I want women of all ages to be aware. I am 35, and I was returned twice over from a mammogram. If any symptoms come up, think of it as a protective force and get yourselves examined."

Christina Applegate

Sheryl CrowSheryl, who was diagnosed with breast cancer in 2006 at age 44, is now cancer free. She said, "I found myself tempted to delay my annual mammogram visit like so many women do when dealing with stressful periods of life. Fortunately, I kept that appointment, and my breast cancer was found early."

Chhavi HusseinChhavi, 41, who was diagnosed with breast cancer in April 2022, wrote on social media, "I had gone to a doctor for a minor gym injury in the chest and that's when they found the lump. To all women nothing should be left to chance Please do regular self-examination/ mammograms... and do not neglect a lump. Early detection is the only key."

Kylie MinogueKylie Minogue was diagnosed with early stage breast cancer in 2005 at age 39, just months after being "misdiagnosed". "So my message to all of you and everyone at home is, because someone is in a white coat and using big medical instruments doesn't necessarily mean they are right," she said on Ellen DeGeneres' talk show in 2008, advising women to trust their intuition. She added, "When you are stripped of everything and you have to grow your eyelashes back, grow your hair back, it's astonishing. It's hard to express what I've learnt from that, but a deep psychological and emotional shift has obviously taken place."

Cynthia Nixon"Get your mammograms and don't delay," said Sex And The City star Cynthia Nixon. Diagnosed in 2002 at age 40, she remained private about her cancer treatment, that included a lumpectomy and radiation, before publicly announcing her diagnosis. Her mother is also a breast cancer survivor.

Julia Louis-DreyfusIn September 2017, multiple Emmy Awards winner Julia Louis-Dreyfus, then-56, announced her diagnosis on Twitter: "1 in 8 women get breast cancer. Today, I'm the one," she wrote.

Continued here:
Warning signs to preventive tests: How to catch breast cancer early - Times of India

With a view to gearing up for tackling new health challenges, the Karnataka government will establish a Centre for Pandemic Preparedness, Centre for Longevity and Bio- Repository Centre at Bangalore Bioinnovation Centre (BBC) in electronic city.

Dr Vishal Rao, member of Karnataka State Vision Group on Biotechnology and regional director (head and neck surgical oncology and robotic surgery) at HCG Cancer Hospital told The Indian Express, We are living on the cusp of pandemic era. In our perpetually complex and interconnected world, the exact nature of the next outbreak is uncertain and hence cant be predicted. At the BBC, Centre for Pandemic Preparedness, for the first time in India, we have achieved a blend of unique experiences and expertise coupled with specialist capabilities to address the multifarious challenges of the pandemic age and respond to outbreaks of disease in close to real time.

The Centre for Pandemic Preparedness will start operations within six months.

Centre for Longevity

The Centre for Longevity, an integral part of the Bangalore Bio-innovation Centre, will foster academia and industry collaborations to conduct research, training and innovation on diverse issues related to pandemic preparedness. The principal collaborators will be the Indian Institute of Science (IISC) Centre for Biosystems and Engineering along with Rajiv Gandhi University of Health Sciences and Emory Vaccine Center, USA.

The Centre for Pandemic Preparedness will draw from and build on research and experience across the key disciplines of public health and epidemiology. We will be a catalyst, enabling a fusion of political, social, economic and cultural expertise from across the world to create insights, new methodologies and breakthrough solutions that can help humanity adapt faster to disease outbreaks. It will enable cross talk between diverse domain experts including epidemiologists, public health experts, data scientists, medical doctors, microbiologists, data analysts, policymakers, International agencies, NGOs, bio pharma manufacturing partners, scientists, and government representatives, Rao said.

Explaining further he added, COVID-19 has taught us that the pathogen itself is only part of the story. In todays world, the social, cultural, economic and political contexts are pivotal and the fallout is much more far reaching and long-lasting. Being prepared in the pandemic era will mean taking this wider context and these broader factors into consideration. It starts by understanding the COVID-19 pandemic for what it truly is, not a one-off crisis to be countered, but a warning as well as a chance to think creatively and plan ahead. We need to making this pandemic the catalyst for developing new ways of working, evolving actionable insights and a deep rooted systemic change.

Bio- Repository Centre

Rao said bio-banks and bio-repositories and research cohorts (including demographic sites) are national assets established with considerable efforts. Recent advances in the tools and technology of molecular biology, genetics, environmental sciences, epidemiology and demography have increased the demand for well-annotated, properly preserved biological specimens and associated epidemiological and demographic data. In response to the demand for personalised medicine, organ and tissue-specific biobanks, cohorts and demographic sites have been or are in the process of being established in several parts of the country, he said.

Dissemination of biological samples

Explaining the role of Bio-Repository Centre, Rao said that bio-banking involves the collection, processing, storage, and dissemination of biological samples and their associated clinical data and information, organised in a systematic way. A well-managed biobank is a critical prerequisite for high-quality biomedical research. Recent advances in the tools and technology of molecular biology and genetics have increased the demand for well-annotated, properly preserved specimens. To address the demand, biobanks have been established in several continents over the past dozen years, and more are in development, Rao said.

Continue reading here:
Karnataka to set up centre for pandemic preparedness in 6 months to respond to disease outbreaks - The Indian Express

Enzyme research unlocks gateway for new medicines

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Former GGD student Cvic Innocent was named as a 2022 Woman in Optics by the International society for optics and photonics.

Advanced microscopy shines light on new CRISPR-Cas system

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RNA analysis at heart of COVID-19 testing

Congratulations to Maureen Hanson - Elected to the American Academy of Arts and Sciences

Maureen Hanson is elected to the National Academy of Sciences

Jun "Kelly" Liu Recipient of the 2021 Robert A. and Donna B. Paul Academic Advising Award

Congratulations to Irma Fernandez - Recipient of the 2021 Graduate Diversity & InclusionExemplary Service Awards for Advanced Career Students

Emr wins $1.2M Shaw Prize in Life Science and Medicine

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Originally posted here:
Welcome | Department of Molecular Biology and Genetics

A team of researchers in Sweden gained new insights into the molecular mechanisms associated with plant reactions to environmental stressors, such as touching, pruning or infection.

The scientists explored the inner working of such reactions and the resulting behavior of the plant, discovering new crucial genetic factors which could impact crop yields.

The Lund University team reiterated that plants react to mechanical stimuli to better cope with specific environmental threats.

The study published in Science Advances explained that mechanical stimulation triggers rapid gene expression changes and affects plant appearance (thigmomorphogenesis) and flowering.

Thigmomorphogenesis is generated by repeated stimulation and includes significant modifications in the plant morphology, such as dwarfism, pithiness, altered mechanical properties of the stem, delayed flowering, improved anchorage strength of roots and reduced stomatal aperture.

Such changes tend to improve the ability of the plants to resist strong winds and improve their response to infection. In addition, these changes might strengthen resilience to cold, salinity, or drought.

The new research and afew other studies exploring similar plant reactions contribute to agrowing knowledge of mechanisms that scientists believe could be crucial to improving farming techniques.

Mechanostimulation has been gaining attention as apotential method for sustainable agriculture practices to improve food security, the researchers wrote.

However, the plant response to mechanical stimulation is very complex, as it depends on the intensity of mechanical load and frequency of exposures, they added. Understanding the molecular mechanism of plant mechanoperception and thigmomorphogenesis is imperative to apply this method for large-scale farming.

Previous research identified molecular mechanisms related to plant mechanoperception. Other studies noted the important relationship between jasmonic acid and touch signaling.

Despite many years of research on how transcriptional responses to mechanical stimulation in plants are controlled, only afew regulators have been identified and consistently validated, the researchers wrote.

Here, we used reverse genetics to further characterize the molecular mechanisms underlying touch signaling, they added.

For example, Olivier Van Aken, abiologist at Lund University, told ScienceAlert magazine: We exposed the plant thale cress to soft brushing, after which thousands of genes were activated, and stress hormones were released. We then used genetic screening to find the genes that were responsible for this process.

According to his colleague Essam Darwish, the study results solve ascientific mystery that has eluded the worlds molecular biologists for 30years.

We have identified acompletely new signaling pathway that controls aplants response to physical contact and touch, he added. Now the search for more paths continues.

The researchers believe that abetter understanding of those mechanisms might bring new opportunities for global agriculture, with climate change and conflicts threatening food security in many regions.

Given the extreme weather conditions and pathogen infections that climate change leads to, it is of utmost importance to find new ecologically responsible ways to improve crop productivity and resistance, Van Aken concluded.

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Studying Plant Reactions to Environmental Stressors Key to Sustainable Agriculture - Olive Oil Times

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See the article here:
Genetic structure of Sclerotinia sclerotiorum populations from sunflower and cabbage in West Azarbaijan province of Iran | Scientific Reports -...

The New Indian Express (TNIE) had recently published a report which claimed that the Central Cultural Ministry is going to study Racial Purity of Indians. It talked about the Ministry of Culture looking forward to acquiring state-of-the-art DNA profiling kits and machines to trace the genetic history and trace the purity of races in India.

The Purity of Races angle in the article comes from the quote of Prof. Vasant Shinde, who serves as the adjunct professor at the National Institute of Advanced Studies in Bengaluru. Shinde notes that his team wants to study the mutation and mixing of genes that has happened in the last 10,000 years. While genetic mutation talks about the interaction of Indians with other populations of the world, studying the same will give us a clear-cut idea of our genetic history.

In the TNIE article, the news of the investigation to trace the genetic history of the Indian population was conflated with researchers studying the purity of races in India. While the concept of race remains purely a social concept and has no biological basis, purity here meant tracing the origins of DNA haplogroups among the Indian population. The deliberate contestation of the two led quite a stir among readers who were perplexed at the unscientific claims of the article. Soon, The Ministry of culture categorically dismissed the article as misleading.

However, it was for Congress MLA Rahul Gandhi to quote the report that was already labelled factually incorrect and to go on indirectly connect the dots with Hitlers racist policies in Nazi Germany. While tracing genetic ancestry had nothing to do with racial purity, Rahul Gandhi saw an opportunity to tag the article and score a political goal. By tagging the misleading piece from TNIE which could have sentimental repercussions and fan polarization in the society, Gandhi wrote on Twitter, The last time a country had a culture ministry studying racial purity, it didnt end well. India wants job security & economic prosperity, not racial purity, Prime Minister.

The Culture Ministry took note of the article in Morning Standard edition of TNIE on 28th May and termed it as misleading, mischievous and contrary to facts. The proposal is not related to establishing genetic history and trace the purity of races in India as alluded to in the article, it said. The statement noted that while the proposal by the Anthropological Survey of India (AnSI) is being examined under merits, it only deals with upgrading the existing DNA lab in Kolkata to next-generation sequencing facilities for certain ongoing projects.

Even after the Ministry of Culture dismissed the report for being factually incorrect, Rahul Gandhi went on to sensationalise the fake news to capitalise on the charged sentiment against the alleged research on racial purity. Central Minister for Culture, G Kishan Reddy lashed out at Gandhi in a tweet saying, Prior to Shri Gandhis tweet (probably from somewhere abroad), the Ministry of Culture, GoI had already flagged this article as misleading. Is he oblivious to this or has he intentionally chosen to further propagate such fake news?

Noted Genetic Scientist Neeraj Rai has lashed out at The New Indian Express for deliberatively publishing a misleading article. Describing the article as mischievous, he said he is upset about his research being described as studying racial purity. DNA research has great potential for improving our understanding of human health and history and should not be used to support discriminatory ideas, he added.

Rai, who heads the ancient DNA Lab at the Birbal Sahni Institute of Palaeosciences, Govt. of India, criticised Rahul Gandhi for his blatant attempt at politicising a scientific investigation. He wrote tagging Rahul Gandhi, Racial purity is not a thing and race is not a biologically supported context. It has been a tool for politicians to propagate racism and should not be conflated with genetic ancestry.

Author and economist Sanjeev Sanyal, who has written several books on Indian history and geography, has noted that this is a classic case of deliberately misleading a scientific study. Archaeo-genetics is a well-established field and attempts to trace the human journey. If anything it establishes that there is no such thing as pure race. Indeed, we are not even a pure species, he wrote.

Author and Scientist Anand Ranganathan, who teaches molecular biology at the Jawaharlal Nehru University asserted that Race is not a biological concept but a social one. Race is not a scientific concept, purity even less so. Not only are 8 Billion Humans 99.97% genetically identical, but the modern Human genome is also but a mishmash of primate, plant, bacterial, parasite, and viral DNA. he tweeted.

While the claims of the article and its purposeful politicization by Rahul Gandhi were criticised left, right and centre, this is not the only instance where a scientific study related to genetics was politicised. The Aryan Invasion Theory, which was used by Dravidian Politicians and leftist historians for decades to claim that the race of Aryans invaded/migrated to India between 2000 BCE and 1500 BCE, was debunked after new research proved that all claims of invasion by a white-skinned Aryan race have been without any scientific basis. DNA studies have established that not only do all people in the Indian subcontinent share a common ancestry, there have been migrations outwards from India, hinting at widespread trade and related migration.

Follow this link:
The New Indian Express uses the term racial purity to make false claims about research on genetic ancestry, Rahul Gandhi furthers the propaganda -...

The development of AI and large datasets will help automate the processes of drug discovery and development.

Science

by WangGuo on 31 May 2022

in Issue 1802

Drug discovery is a hard, time-consuming and expensive process. A single drugspends around 10 years in the lab before being released into the market. Furthermore, more than 99% of all the potential drugs end up unsuccessful. The rise of AI, as well as giant databases, seem to promise a new future in which drugs will be developed quicker, but will also be safer and more effective.

Before developing any drug, we need to find a biological site of interest that can be related to a disease. For example, GPCRs are cellular receptors that regulate cell proliferation and are involved in many cancers. Thus, creating drugs targeted at GPCRs is sensible and indeed, GPCRs are one of the main areas of research in our fight against cancer. The discovery of a potential biological site is challenging because sometimes we cannot characterise it entirely and/or delivering the drug to it would not be an easy task. This also means that we need to study many different biological sites, usually thousands of them through experiments, which takes up time and money. Using AI to run simulations of biological sites allows us to screen them much faster as we are not limited by how many experiments we can carry out.

Now that the drug target is identified, we need to actually develop our drug. Traditionally, this is done by humans through trial and error, but maybe in the future, computers could design the drug for us by analysing the structure of the biological site through simulations and dataset evaluation. Large and reliable datasets are essential for machine learning - the process by which computers learn from data as it allows for better performance, and so better and faster drug discovery. Precisely because the datasets must be large, these will arguably force labs and pharmaceutical companies around the world to share the data of their research with each other in order to increase the performance of computers in drug discovery. Could this make patents and IP obsolete? The traditional way of making money from pharmaceutical research would not be as effective as it is today. In that hypothetical future, the benefits of sharing your information are much greater than keeping it for yourself. There are two main types of data: sequence and imaging data. The first one is about the sequences of DNA, RNA and proteins, whereas the second is about structures of molecules/cells like proteins/mitochondria. There is another type of data that has the potential to revolutionise the way we understand genetics and drug discovery: epigenetic data, meaning the changes in gene activity caused by the environment. However, epigenetic data is very variable between individuals. Thus, the data is subject to particular interpretations and may not be easily storable.

Computers acquire information from these large datasets to integrate into their behaviour patterns to optimise their responses in a process called deep learning. The capability of deep learning is unbelievable. With it, computers can determine the structure of proteins by just reading their amino acid sequence. This is a milestone in molecular biology, as predicting how proteins fold has been impossible for humans to determine as there are too many factors to take into account.

Having said that, a world where all drugs are designed by computers is still far away. Even though there are many companies dedicated to this area of research and there are already functional prototypes, the pharmaceutical industry moves very slowly and mass-scaling a product is complicated not only due to logistics but also the necessity to guarantee high efficiency and safety.

To conclude, at present, there is a need for significant investment, in order to develop and commercialise drugs. Pharmaceutical companies and research institutions are under constant pressure to obtain more patents, which do not necessarily succeed in the goal of drugs: to improve peoples quality of life. Not only could computers dramatically accelerate the drug development process, but they might also democratise it by forcing organisations to make their data public.

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Computers will make our drugs in the future - FelixOnline

CUPERTINO, CA & DELRAY BEACH, Fla.--(BUSINESS WIRE)--OneCellDx and Genetics Institute of America announced today that they have signed a memorandum of understanding for a diagnostics commercialization agreement for the OneCellDx OncoPredikt HRD Assay. Genetics Institute of America will create a laboratory developed test (LDT) based on OneCellDxs proprietary AI Enabled Algorithm and assay. The OncoPredikt assay identifies Homologous Recombination Deficiency (HRD) in cancer patients with quicker turnaround times and lower costs.

Current HRD prediction tests are expensive, time-consuming, require multi-technique processes, and often have sample QC rejection due to low DNA quantity. OneCellDx has developed a proprietary AI-enabled tool to predict key genomic signatures. Genetics Institute of America will run a validation study in its CAP Accredited, CLIA certified facility and launch the laboratory developed test upon successful completion and acceptance of the study.

Our team of scientists and engineers have developed a uniquely impactful solution and are very excited to partner with the team at Genetics Institute of America in bringing OncoPredikt HRD to market, said Mohan Uttarwar, Co-founder and CEO of OneCellDx.

The ability to positively impact patients lives is one of the missions of Genetics Institute of America. Bringing the OncoPredikt HRD test to market will help in accelerating the development of novel pharmaceuticals, improving the care of thousands of patients, said Holly Magliochetti, CEO and Founder of Genetics Institute of America.

OneCellDx will present a poster session on OncoPredikt HRD at the American Society of Clinical Oncology Annual Meeting (ASCO), June 3-7, 2022, Chicago. Genetics Institute of America and OneCellDx will launch the LDT through HRD Pharma Development programs.

About OneCellDx

One Cell Diagnostics, Inc. is a genomics-based Precision Oncology Diagnostics company in Cupertino, CA. We have developed proprietary AI algorithms and leveraging AI and bioinformatics for developing first-in-class, clinically and analytically validated lab tests decoding actionable genetic alterations in individual tumors to help clinicians develop personalized treatment plans for patients. OneCellDx has developed two tests: OncoPredikt HRD - AI-enabled HRD prediction from H/E image, and OncoIndx - NGS-based comprehensive gene panel assays for multiple cancer types to identify key actionable biomarkers. For more information, please visit https://www.onecelldx.com/.

About Genetics Institute of America

Genetics Institute of America is a national high complexity molecular laboratory dedicated to heightening the awareness of early intervention and genetic testing to promote longevity and quality of life outcomes by focusing on DNA, RNA, and Proteins. Our modern CAP Accredited CLIA-certified laboratory facility in Delray Beach, FL, contains the most current technology, allowing us to provide leadership in both research and clinical laboratory testing. For more information, please visit http://www.GenLabUS.com/.

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OneCellDx and Genetics Institute of America Partner to Launch OncoPredikt HRD Assay - Business Wire

Summary: Study reports an overlap between genetic architecture and co-morbid mental health diagnosis. Researchers found 70% of the genetic signals associated with schizophrenia were also linked to bipolar disorder. Anorexia and OCD have a strong, shared genetic architecture.

Source: University of Colorado

More than half of people diagnosed with one psychiatric disorder will be diagnosed with a second or third in their lifetime. About a third have four or more.

This can make treatment challenging and leave patients feeling unlucky and discouraged.

But a sweeping new analysis of 11 majorpsychiatric disordersoffers new insight into why comorbidities are the norm, rather than the exception, when it comes to mental illness.

The study, published this week in the journalNature Genetics, found that while there is no gene or set of genes underlying risk for all of them, subsets of disordersincluding bipolar disorder and schizophrenia; anorexia nervosa and obsessive-compulsive disorder; andmajor depressionand anxietydo share a common genetic architecture.

Our findings confirm that high comorbidity across some disorders in part reflects overlapping pathways of genetic risk, said lead author Andrew Grotzinger, an assistant professor in the Department of Psychology and Neuroscience.

The finding could ultimately open the door to treatments that address multiple psychiatric disorders at once and help reshape the way diagnoses are given, he said.

If you had a cold, you wouldnt want to be diagnosed with coughing disorder, sneezing disorder and aching joints disorder, Grotzinger said.

This study is a stepping stone toward creating a diagnostic manual that better maps on to what is actually happening biologically.

How the study worked

For the study, Grotzinger and colleagues at University of Texas at Austin, Vrije Universiteit Amsterdam and other collaborating institutions analyzed publicly available genome-wide association (GWAS) data from hundreds of thousands of people who submittedgenetic materialto large-scale datasets, such as the UK Biobank and the Psychiatric Genomics Consortium.

They looked at genes associated with 11 disorders, including: schizophrenia, bipolar disorder,major depressive disorder, anxiety disorder, anorexia nervosa, obsessive-compulsive disorder, Tourette syndrome, post-traumatic stress disorder, problematic alcohol use, ADHD and autism.

In addition, they looked at data gathered via wearable movement tracking devices, and survey data documenting physical and behavioral traits.

Then they applied novel statistical genetic methods to identify common patterns across disorders.

Linked diagnoses

They found 70% of the genetic signal associated with schizophrenia is also associated with bipolar disorder. That finding was surprising as, under current diagnostic guidelines, clinicians typically will not diagnose an individual with both.

They also found anorexia nervosa andobsessive-compulsive disorderhave a strong, shared genetic architecture, and that people with a genetic predisposition to have a smaller body type or low BMI (body mass index), also tend to have agenetic predispositionto these disorders.

Not surprisingly, as the two diagnoses often go together, the study found a large genetic overlap between anxiety disorder and major depressive disorder.

When analyzing accelerometer data, the researchers found disorders that tend to cluster together also tend to share genes that influence how and when we move around during the day.

For instance, those with internalizing disorders, such as anxiety and depression, tend to have a genetic architecture associated with low movement throughout the day.

Compulsive disorders (OCD, anorexia) tend to correlate with genes associated with higher movement throughout the day, and psychotic disorders (schizophrenia and bipolar disorder) tend to genetically correlate with excess movement in the early morning hours.

When you think about it, it makes sense, said Grotzinger, noting that depressed individuals often present as fatigued or low energy, while those with compulsive disorders can have difficulty sitting still.

In all, the study identifies 152 genetic variants shared across multiple disorders, including those already known to influence certain types of brain cells.

For instance, gene variants that influence excitatory and GABAergic brain neuronswhich are involved in critical signaling pathways in the brainappear to strongly underlie the genetic signal that is shared across schizophrenia andbipolar disorder.

Whats next

While much more needs to be done to determine exactly what the identified genes do, Grotzinger sees the research as a first step toward developing therapies that can address multiple disorders with one treatment.

People are more likely today to be prescribed multiple medications intended to treat multiple diagnoses and in some instances those medicines can have side effects, he said.

By identifying what is shared across these issues, we can hopefully come up with ways to target them in a different way that doesnt require four separate pills or four separate psychotherapy interventions.

Meantime, just understanding the genetics underlying their disorders may provide comfort to some.

Its important for people to know they didnt just get a terrible roll of the dice in lifethat they are not facing multiple different issues but rather one set of risk factors bleeding into them all.

Author: Press OfficeSource: University of ColoradoContact: Press Office University of ColoradoImage: The image is in the public domain

Original Research: Open access.Genetic architecture of 11 major psychiatric disorders at biobehavioral, functional genomic and molecular genetic levels of analysis by Andrew D. Grotzinger et al. Nature Genetics

Abstract

Genetic architecture of 11 major psychiatric disorders at biobehavioral, functional genomic and molecular genetic levels of analysis

We interrogate the joint genetic architecture of 11 major psychiatric disorders at biobehavioral, functional genomic and molecular genetic levels of analysis.

We identify four broad factors (neurodevelopmental, compulsive, psychotic and internalizing) that underlie genetic correlations among the disorders and test whether these factors adequately explain their genetic correlations with biobehavioral traits.

We introduce stratified genomic structural equation modeling, which we use to identify gene sets that disproportionately contribute to genetic risk sharing. This includes protein-truncating variant-intolerant genes expressed in excitatory and GABAergic brain cells that are enriched for genetic overlap across disorders with psychotic features.

Multivariate association analyses detect 152 (20 new) independent loci that act on the individual factors and identify nine loci that act heterogeneously across disorders within a factor.

Despite moderate-to-high genetic correlations across all 11 disorders, we find little utility of a single dimension of genetic risk across psychiatric disorders either at the level of biobehavioral correlates or at the level of individual variants.

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Multiple Diagnoses Are the Norm With Mental Illness and a New Genetic Study Explains Why - Neuroscience News

image:Children with Joubert Syndrome, like the girl in the image, may face a brighter future if hippocampal defects can be addressed. view more

Credit: JSUK

An important link has been found between the intellectual disability experienced by children with the rare disease Joubert Syndrome (JS) and defects in the hippocampus. The hippocampus is the part of the brain associated with learning and memory. It also plays a role in various neurological and psychiatric disorders.

Biologists at the University of Bath in the UK, led byDr Vasanta Subramanian,made this link in animal models by manipulating a gene (one of 34) known to cause JS in humans. Results fromthe studyare published inHuman Molecular Genetics.

By creating a deletion in the gene Talpid3 in healthy mice, graduate student Andrew L Bashford found that animals went on to develop defects to the primary cilia a cell structure that is essential in the development of the hippocampus. When examining the brains of mutant animals, the researchers observed defects in the hippocampus that bore a striking resemblance to those found in children with JS.

The primary cilia long, thin organelles that protrude from the surface of most cells work like cellular antennae, sending signals from the external environment of the cell to the interior, instructing the cell on how to behave (e.g. should it migrate, divide, stop dividing?). Primary cilia are important for the structure and function of many types of cells, including brain cells.

The findings from the study suggest a link between hippocampal defects, and the learning and memory deficits seen in JS patients. Malformations in the hindbrain (the lower part of the brainstem) are already known to be responsible for many of the physical symptoms associated with JS.

This is the first time we have seen a link between changes to the hippocampus and this disease in mouse models, said Dr Subramanian. This is an exciting area of research that we hope to continue making a contribution to. Joubert Syndrome is one of many rare diseases that has a devastating impact on those affected and is now rightly getting the research attention it deserves.

With further research on animal models, Dr Subramanian and her team expect to deepen their understanding of the causes of JS. In time, they hope drugs will be developed to target some of the genes or proteins involved in the disease, thereby alleviating symptoms or stopping the disease from developing in the first place.

Joubert Syndrome is a rare childhood disease that leads to poor muscle coordination, developmental delay, abnormal eye movements and neonatal breathing abnormalities. It is estimated that between 1 in 80,000 and 1 in 100,000 newborns are affected by the condition.

Speaking on behalf of the family-support organisation Joubert Syndrome UK, Faith Douthwaite said: We are delighted to hear about this new research, and also appreciate the dedication of medical professionals who continue to unravel the mysteries of Joubert Syndrome so as to improve the health and wellbeing of our beautiful and unique children.

Human Molecular Genetics

Experimental study

Animals

Hippocampal neurogenesis is impaired in mice with a deletion in the coiled coil domain of Talpid3-implications for Joubert Syndrome

26-Apr-2022

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Joubert Syndrome: the link between intellectual disability and defects in the hippocampus - EurekAlert