Category Archives: Transhuman News

The University of Toronto community is remembering University ProfessorLouis Siminovitch,a scientific visionary who was the first chair of what is today the department ofmolecular geneticsin the Temerty Faculty of Medicine.

Siminovitch, who was alsothe founding director of theLunenfeld-Tanenbaum Research Institute(LTRI) at Sinai Health, died this week nearly one year after celebrating his 100th birthday, which took place as COVID-19 forced the world to physically distance and scientists stepped up to confront the challenge of a lethal new virus.

Many former colleagues ofLou, as he was affectionately known, used the occasion tohighlight his many contributions,and U of T established acatalyst trainee awardin his name.

Lou had a transformative impact on biomedical research in Canada and around the globe, saidLeah Cowen, associate vice-president, research and former chair of molecular genetics at U of T.

He was relentless in his pursuit of research excellence, with an inspiring commitment to mentoring generations of scientists and leading scientific communities.

As a molecular biologist and pioneer in human genetics, Siminovitch made important contributions in the fields of bacterial and animal virus genetics, human genetics and cancer research, publishing more than 200 papers.

His work helped uncover the genetic bases of muscular dystrophy and cystic fibrosis, and it laid the groundwork for genetic connections to cancer.The better the science, the better the patient care, Siminovitch used to say.

Siminovitch contributed to the Nobel Prize-winning work in molecular genetics ofJacques MonodandAndre Lwoffduring his years at the Pasteur Institute in Paris. He was aninducteein the Canadian Medical Hall of Fame, and a Companion of the Order of Canada.

Daniel Druckerrecalled that when he returned from a postdoctoral position at Harvard University in the 1980s to set up a lab in Toronto as a principal investigator, a colleague suggested he speak to Siminovitch.

Lou didnt know me but he was very generous of his timeand he gave me valuable advice on grants and direction in research that continued for many years, said Drucker, a professor in the department ofmedicineat the Temerty Faculty of Medicine and a senior investigator at LTRI.

He was a strong, opinionated personality, and not everyone was thankful when, unsolicited, he told them what to do and when. But he was a huge force in building the modern molecular biology research ecosystem in Toronto, Canada and the world.

Siminovitch was renowned as a mentor and researcher, but also as a scientific builder. He played key roles in establishing and developing several top research environments in Canada, including the Ontario Cancer Institute at Princess Margaret Hospital and The Hospital for Sick Children Research Institute.

At age 65, when others might have contemplated retirement, Siminovitch was at the top of his game. Mount Sinai recruited him to build an academic research instituteand, as inaugural director, he attracted 25 of the globes most eminent scientists to the team. Thanks to his foundational efforts, LTRI is today the top-ranked biomedical research institute in Canada.

Canadian biomedical research owes a huge debt to Lou, saidJim Woodgett, a professor ofmedical biophysicsat the Temerty Faculty of Medicine and former Koffler director of research at LTRI. He instilled the importance of mentorship, of quality, and of balance and inspired us all to fulfill our potential. His impact will live on in the many scientists and leaders he inspired.

A giant of science, Siminovitch was also a well-rounded individual with wide-ranging interests in the arts and a deep commitment to family. The Elinore and Lou Siminovitch Prize in Theatre bears his name and that of his late wife, a highly respected playwright.

Even in his final years, Siminovitch could still be found regularly at LTRI often in the office of his daughter,Katherine Siminovitch, professor of medicine andimmunologyat the Temerty Faculty of Medicine and senior investigator at LTRI.

Lous leadership to the scientific and academic community changed so many careers, saidGary Newton, president and CEO of Sinai Health. His work shaped Canadian medicine in a very profound way and his impact can be seen every day in the halls and labs of Mount Sinai Hospital.

Mount Sinai Hospital will mark its 100th anniversary in 2023, and the hospitals foundation is honouring Siminovitchs achievements through aSinai 100 Chairin his name.

At U of T, theDr. Lou Siminovitch Catalyst Trainee Awardwill be awarded annually to early career faculty members to support the work of students they supervise.

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In memoriam: Louis Siminovitch, the father of genetic research in Canada - News@UofT

The genetic etiology of hyperuricemia, gout, and their comorbidities was demonstrated; both hyperuricemia and gout were found to be linked to chronic kidney disease (CKD) and components of metabolic syndrome, such as obesity, type 2 diabetes mellitus (T2D), and hypertension, according to results of an analysis published in European Journal of Human Genetics.

Recognizing that CKD, T2D, obesity, and hypertension are all comorbidities with a high prevalence among individuals with hyperuricemia (defined as a serum urate level of >6.8 mg/dL) and gout, the researchers sought to explore the hypothesis that the co-association of traits that represented hyperuricemia and its comorbidities had a genetic basis.

Using multivariate representations of Bayesian whole-genome regression (WGR), the researchers estimated the genetic correlations between serum urate, systolic blood pressure (SBP), blood glucose and body mass index (BMI), and serum creatinine (SCr) levels, based on data from 2 independent family-based datasets: the longitudinal Framingham Heart Study (FHS) and the Hypertension Genetic Epidemiology Network study (HyperGEN).

The current analysis included information about single-nucleotide polymorphism (SNP) genotypes and clinical data calculated from a total of 8200 combined records from 3 cohorts: cohort 0 (original cohort; exam 13; n=1396); cohort 1 (offspring cohort; exam 6; n=3237); and cohort 3 (third-generation; exam 1; n=3567).

Results of the analysis showed that heritability estimates were consistent between the 2 studies, except for the FHS SBP that was lower at 0.27 (range, 0.23-0.31) than the estimate of 0.50 (range, 0.43-0.56) for the HyperGEN dataset. With the FHS dataset, the minimum heritable estimate was for glucose level at 0.31 (range, 0.26-0.36) and the maximum was for SCr level at 0.49 (range, 0.42-0.57). However, with the HyperGEN dataset, the minimal heritability estimate was lowest for glucose at 0.31 (range, 0.17-0.44) and the maximum heritability estimate was for BMI at 0.56 (range, 0.48- 0.64).

Main genetic findings that were replicated in both the FHS and the HyperGEN datasets included the fact that SCr level was genetically linked to urate level only, as well as the finding that BMI was genetically correlated to urate level, SBP, and glucose level. Since SCr levels are genetically linked to urate levels, but not to metabolic traits, it implies that 1 genetic module of shared loci, which are associated with hyperuricemia and CKD, exists. Further, another module of shared loci may help to explain the association between hyperuricemia and metabolic syndrome.

Study limitations included the inability to infer directionality of causal relationships and that the genetic correlations estimated from genomic data have been questioned.

Researchers concluded that the findings from this study motivate future quantification of genetic correlations at individual loci, which will increase our knowledge of the genetic etiology of hyperuricemia, gout, and its comorbidities.

Disclosure: Several study authors declared affiliations with the pharmaceutical industry. Please see the original reference for a full list of authors disclosures.

Reynolds RJ, Irvin MR, Bridges SL, et al. Genetic correlations between traits associated with hyperuricemia, gout, and comorbidities. Eur J Hum Genet. Published online February 26, 2021. doi:10.1038/s41431-021-00830-z

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Genetic Prevalence of Traits Linked to Hyperuricemia, Gout, and Associated Comorbidities - Rheumatology Advisor

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Market Segmentation by Type: Enzyme Replacement Therapy (ERT), Substrate Reduction Treatment (SBT).

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Table of Contents

Global Gaucher Disease Treatment Market Research Report 2021

Chapter 1 Gaucher Disease Treatment Market Overview

Chapter 2 Global Economic Impact on Industry

Chapter 3 Global Market Competition by Manufacturers

Chapter 4 Global Production, Revenue (Value) by Region

Chapter 5 Global Supply (Production), Consumption, Export, Import by Regions

Chapter 6 Global Production, Revenue (Value), Price Trend by Type

Chapter 7 Global Market Analysis by Application

Chapter 8 Manufacturing Cost Analysis

Chapter 9 Industrial Chain, Sourcing Strategy and Downstream Buyers

Chapter 10 Marketing Strategy Analysis, Distributors/Traders

Chapter 11 Market Effect Factors Analysis

Chapter 12 Global Gaucher Disease Treatment Market Forecast

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Shire Human Genetics Therapies The Bisouv Network - The Bisouv Network

As per the Organization of Rare diseases in India (ORDI), 1 in 20 Indians is affected by a rare disorder. More than 7,000 rare diseases are known and reported worldwide; from these approximately 80 per cent are known to have a genetic predisposition. Some of these common rare diseases weve heard of are inherited cancers (eg. breast, ovarian, and colorectal etc.), hemoglobinopathies (hemophilia, thalassemia, and sickle cell anemia etc.), auto-immune deficiencies, and lysosomal storage disorders among others, says Dr Aparna Dhar, head of department: medical genetics and genetic counselling, CRE Diagnostics.

In the year 2020, the world has undergone massive changes. It has made us introspect and re-evaluate our lives. Weve started looking after our wellbeing by addressing issues associated with mental health and physical health. Weve consciously tried to bring about lifestyle changes that have been coupled with teaming up with healthcare/diagnostic providers to give us a more personalised approach. One key way of doing this is by understanding if they have a genetic pre-disposition to a hereditary disorder, she adds.

A global study conducted by the Mayo Clinic, USA stated that 1 in 10 people who underwent predictive genetic testing, learned that they had a hereditary risk for a health condition and could actually benefit from preventive care. While no genetic test can accurately predict the exact date and time a disease may present, it will definitely be able to tell if an individual is at a higher risk vs the general population risk.

However, Dr Dhar says that there is definitely a lack of awareness around these genetic disorders, misconception about genetic diseases and testing, taboo talking about a potential familial disorder, and cost challenges.

Below, she addresses some of these:

What is a genetic test?

Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a persons chance of developing or passing on a genetic disorder. More than 1,000 genetic tests are currently in use, and more are being developed. Genetic tests are performed on a sample of blood, hair, skin, amniotic fluid (the fluid that surrounds a fetus during pregnancy), or other tissue.

For example, a procedure called a buccal smear uses a small brush or cotton swab to collect a sample of cells from the inside surface of the cheek. The sample is sent to a laboratory where technicians look for specific changes in chromosomes, DNA, or proteins, depending on the suspected disorder. The laboratory reports the test results in writing to a persons doctor or genetic counselor, or directly to the patient if requested.

How should one prepare for genetic testing?

Genetic testing can provide important, life-saving information. Interpreting the results is critical. It can be difficult for a medical doctor to understand the result if they dont have specialized training in genetics. Thats why genetic counselors exist. They are trained in both medical genetics and counseling and work closely with your doctor to provide both clinical and emotional advice. They are available to guide, to make sure if you are a good fit for the test and help interpret results. Whereas for some, they might have second thoughts and might not recommend genetic testing as it is not for everyone. While there is perceived stigma of resulting to some disease or bad gene still lies, a counselor will help you understand what the results mean for you and your family.

What useful information can genetic testing provide?

*Genetic testing can provide clarity on the results, guide therapy selection and monitoring, and allow disease risk profiling*Family health history tells you which diseases run in your family*Identify risks due to shared genes*Understand better what lifestyle and environmental factors you share with your family*Understand how healthy lifestyle choices can reduce your risk of developing a disease

The results of genetic tests are not always straightforward, which often makes them challenging to interpret and explain. Therefore, it is important for patients and their families to ask questions about the potential meaning of genetic test results both before and after the test is performed. When interpreting test results, healthcare professionals consider a persons medical history, family history, and the type of genetic test that was done.

A positive test result means that the laboratory found a change in a particular gene, chromosome, or protein of interest. Depending on the purpose of the test, this result may confirm a diagnosis, indicating that a person is a carrier of a particular genetic mutation, identify an increased risk of developing a disease (such as cancer) in the future or suggest a need for further testing. Because family members have some genetic material in common, a positive test result may also have implications for certain blood relatives of the person undergoing testing. It is important to note that a positive result of a predictive or pre-symptomatic genetic test usually cannot establish the exact risk of developing a disorder. Also, health professionals typically cannot use a positive test result to predict the course or severity of a condition.

A negative test result means that the laboratory did not find a change in the gene, chromosome, or protein under consideration. This result can indicate that a person is not affected by a particular disorder, is not a carrier of a specific genetic mutation, or does not have an increased risk of developing a certain disease. It is possible, however, that the test missed a disease-causing genetic alteration because many tests cannot detect all genetic changes that can cause a particular disorder. Further testing may be required to confirm a negative result.

In some cases, a test result might not give any useful information. This type of result is called uninformative, indeterminate, inconclusive, or ambiguous. Uninformative test results sometimes occur because everyone has common, natural variations in their DNA, called polymorphisms that do not affect health. If a genetic test finds a change in DNA that has not been associated with a disorder in other people, it can be difficult to tell whether it is a natural polymorphism or a disease-causing mutation. An uninformative result cannot confirm or rule out a specific diagnosis, and it cannot indicate whether a person has an increased risk of developing a disorder. In some cases, testing other affected and unaffected family members can help clarify this type of result.

Path to well-being

Genetic testing is not limited to only helping from a preventive and proactive perspective, but for those affected with disease; there is a shift to personalised medicine paradigm of disease modeling and targeted gene therapy which has yielded excellent results. In addition, the data from the Human Genome Project has helped us understand the stratification of genes as per their penetrance levels and in turn, help us give a personalised risk assessment to our patients.

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Genetic testing: Everything you need to know - The Indian Express

According to a new research report titled Human Genetics Market Global Industry Perspective, Comprehensive Analysis And Forecast by 2021 2027

This has brought along several changes in This report also covers the impact of COVID-19 on the global market.

The report provides revenue forecasts for global, regional and country levels. It also provides comprehensive coverage on major industry drivers, restraints, and their impact on market growth during the forecast period. For the purpose of research, The Report has segmented global Human Genetics market on the basis of types, technology and region

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Key Competitors of the Global Human Genetics Market are:QIAGEN, Agilent Technologies, Thermo Fisher Scientific, Illumina, Promega, LabCorp, GE

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Major Product Types covered are:

CytogeneticsPrenatal GeneticsMolecular GeneticsSymptom Genetics

Major Applications of Human Genetics covered are:

Research CenterHospitalForensic Laboratories

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Regional Human Genetics Market (Regional Output, Demand & Forecast by Countries):-North America (United States, Canada, Mexico)South America ( Brazil, Argentina, Ecuador, Chile)Asia Pacific (China, Japan, India, Korea)Europe (Germany, UK, France, Italy)Middle East Africa (Egypt, Turkey, Saudi Arabia, Iran) And More.

The research report studies the past, present, and future performance of the global market. The report further analyzes the present competitive scenario, prevalent business models, and the likely advancements in offerings by significant players in the coming years.

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Human Genetics Market Report: Trends, Forecast and Competitive Analysis By 2027 The Bisouv Network - The Bisouv Network

Penn Medicine Researcher: $1 Million Grant to Expand COVID-19 Treatment Discovery Platform

David C. Fajgenbaum, an assistant professor of translational medicine & human genetics and the director of the Center for Cytokine Storm Treatment & Laboratory at the Perelman School of Medicine at the University of Pennsylvania, was awarded $1 million by the Parker Institute for Cancer Immunotherapy (PICI) to expand the scope of the COVID-19 Registry of Off-label & New Agents (CORONA) project and build out his team to accelerate treatment identification for COVID-19.

For the last year, over 100 volunteers and members of my lab have worked on nights and weekends to extract and centralize data for CORONA which has been used to identify and advance the most promising treatments for COVID-19, Dr. Fajgenbaum said. With this grant from PICI, we can build out our team to integrate and analyze data with the effort and urgency that this global pandemic warrants.

CORONA is the worlds largest database of COVID-19 treatments, covering more than 400 treatments that have been reported to be administered to more than 340,000 patients, helping researchers to identify and prioritize promising treatments for well-designed clinical trials and to inform patient care. With funding from PICI, several new tools are in development or have already been built, including an open-access dashboard that integrates data between studies and presents vital data points for prioritizing promising treatments, such as the number of randomized control trials that have been completed, the number that are open, the number that achieved their primary endpoint, and others.

All of the really relevant and important data is listed right next to each COVID-19 drug and kept up to date, Dr. Fajgenbaum said. Given the hundreds of drugs that have been tested in the last year, the tens of thousands of published studies about them, and the global importance of finding truly effective treatments, we had to build a central tool like this. We cant afford to let a promising treatment fall through the cracks.

Fortunately, CORONA has been accessed by over 20,000 users and has served as a critical dataset for the Food and Drug Administration (FDA) and National Institutes of Health (NIH). In fact, Dr. Fajgenbaum was recently selected to serve on the NIHs ACTIV-6 team to select the most promising COVID-19 treatments for a large randomized controlled trial. He is also leading a similar effort for the CURE Drug Repurposing Collaboratory, a public-private partnership between the FDA, NIH, and Critical Path Institute. During the COVID-19 pandemic, Dr. Fajgenbaum also contributed to establishing a unifying definition for cytokine storm, the most deadly manifestation of COVID-19, and uncovered new mechanisms that can be involved in combating cytokine storm.

Additional members of the lab and volunteers on the effort include Sheila Pierson, Johnson Khor, Alexis Phillips, Amber Cohen, Ania Korsunska, and Matt Chadsey.

This process of drug discovery is very personal to Dr. Fajgenbaum and his team. Using a similar approach to CORONA, they have also discovered multiple promising treatment approaches for Castleman disease, which Dr. Fajgenbaum battles as a patient, and even used one of those treatments to induce an extended remission for Dr. Fajgenbaum.

The CORONA project currently has seed funding for one year and is actively seeking additional financial support. While they hope that they can contribute to accelerating the end of this pandemic within that timeframe, they also hope to turn this tool for COVID-19 into a platform for drug discovery and repurposing beyond COVID-19.

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Penn Medicine Researcher: $1 Million Grant to Expand COVID-19 Treatment Discovery Platform - UPENN Almanac