Category Archives: Human Genetics

Work type: Full-timeDepartment: Department of Paediatrics and Adolescent Medicine (21100)Categories: Academic-related Staff

Applications are invited for appointment as Post-doctoral Fellow in the Department of Paediatrics and Adolescent Medicine (Ref.: 503858), to commence as soon as possible for three years, with the possibility of renewal.

Applicants should have a Ph.D. degree and extended experience in immunology, molecular biology, human genetics or bioinformatics, with first-author publications in respected journals of the particular field. Those who are willing to explore new areas of study, including data analysis, are preferred. Applicants should be self-motivated, detail-oriented, and have excellent communication skills in English. .

The appointee will work on functionally characterizing the susceptibility genes for systemic lupus erythematosus (SLE; more information can be found in the recent publication in Nat Commun. 2021 Feb 3;12(1):772), using cutting-edge technologies in immunology, gene editing, transcriptomics, animal models, and integrative data analysis. Training opportunities in both genome-wide functional characterization and data analysis will be provided. There will also be chances to participate in research collaborations with international and Mainland collaborators. Enquiries about the duties of the post should be sent to Dr. Yang Wanling at yangwl@hku.hk.

A highly competitive salary commensurate with qualifications and experience will be offered, in addition to annual leave and medical benefits.

The University only accepts online applications for the above post. Applicants should apply online and upload an up-to-date C.V., a research statement and a study plan. References are only required for shortlisted candidates. Review of applications will start on May 7, 2021 and continue until October 31, 2021, or until the post is filled, whichever is earlier.

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Post-doctoral Fellow, Department of Paediatrics and Adolescent Medicine job with THE UNIVERSITY OF HONG KONG | 252578 - Times Higher Education (THE)

Scientists have discovered a new genetic disease, which causes some childrens brains to develop abnormally, resulting in delayed intellectual development and often early onset cataracts.

The majority of patients with the condition, which is so new it doesnt have a name yet, were also microcephalic, a birth defect where a babys head is smaller than expected when compared to babies of the same sex and age.

Researchers from the universities of Portsmouth and Southampton found that changes in a gene called coat protein complex 1 (COPB1) caused this rare genetic disease.

Now the variant has been identified, it will help clinicians come up with targeted interventions to help patients and their families, also opening the door to screening and prenatal diagnosis.

The research team, made up of frog geneticists, medical genomic research scientists and clinical geneticists, sequenced the DNA of affected patients and their family members, which identified COPB1 as the potential underlying cause of the disease. Using tadpoles to mimic the human gene variants, the tadpoles with the COPB1 gene changes had variably smaller brains than the control tadpoles and many of them had cataracts, just like the patients. This showed the link between the gene and disease very clearly.

Xenopus froglet finishing metamorphosis. Credit: Gretel Nicholson, EXRC

The findings are published in the journal Genome Medicine.

Study co-author Professor Matt Guille, who leads a laboratory in the Epigenetics and Developmental Biology research group at the University of Portsmouth, said: This is the first time that the tadpole has been used in such a direct way to help solve a clinical challenge.

In our initial experiments to test the link between a genetic variation and a disease we found to our surprise that by altering the DNA of tadpoles, four times out of five we could re-create the disease-related changes seen in human patients. This will allow us to support our colleagues in providing more timely, accurate diagnosis that patients and their families so desperately need.

Co-author Diana Baralle, Professor of Genomic medicine and a clinical geneticist at the University of Southampton, said: Next generation sequencing is transforming our ability to make new diagnoses and discover new causes for rare disorders. This story started with sisters I saw in clinic without a known underlying cause for their signs and symptoms. Looking closely at their genes, along with further functional molecular work and xenopus studies, we saw that this was a new previously undescribed syndrome. A diagnosis is so important to the family.

Transgenic Xenopus tadpoles. Credit: Dr Anna Noble, EXRC

One in 17 people will suffer from a rare disease at some time in their lives. Most of these rare diseases have a genetic cause and often affect children, but proving which gene change causes a disease is a huge challenge.

Professor Guille said that previously, while studies connecting a gene and a disease were mainly performed in mice; several labs, including his own at the University of Portsmouth, have recently shown that experiments in tadpoles can also provide very strong evidence about the function of variant human genes. The process of re-creating some gene variants in tadpoles is straightforward and can be done in as little as three days.

Professor Guille added: We now need to extend and improve our technology to make it applicable to the wider range of disease-related DNA changes provided to us by our clinical collaborators.

If the clinical researchers find the information sufficiently useful, then we will continue to work together to scale up the pipeline of gene function analysis so it can be used to direct effective interventions for a significant number of patients.

Reference: Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly by William L. Macken, Annie Godwin, Gabrielle Wheway, Karen Stals, Liliya Nazlamova, Sian Ellard, Ahmed Alfares, Taghrid Aloraini, Lamia AlSubaie, Majid Alfadhel, Sulaiman Alajaji, Htoo A. Wai, Jay Self, Andrew G. L. Douglas, Alexander P. Kao, Matthew Guille and Diana Baralle, 25 February 2021, Genome Medicine.DOI: 10.1186/s13073-021-00850-w

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Strange New Genetic Disease Discovered That Causes Childrens Brains to Develop Abnormally - SciTechDaily

WORLD DNA Day is celebrated every year on April 25 to honour the achievement of the Human Genome Project (HGP), which was completed in April 2003, and the ground-breaking elucidation of the model structure of DNA double helix which was published in Nature magazine on April 25,1953. After the US Congress passed a resolution designating April 25 as DNA Day, the National Human Genome Research Institute began celebrating the day.

The HGP was an international project aimed at discovering the sequence of human DNA and defining all genes that are found in the human genome. The HGP played a big role in explaining the genetics of humans and helped us understand a variety of fundamental questions, including the total number of genes that we have, how our cells function, how diseases develop and what actually happens when we become sick.

The HGP improved biology and medicine because establishing the human genome sequence led to the designing of high-throughput sequencing technologies, and encouraged scientists, doctors and the community to discuss the ethical and social problems raised by such technologies.

Facts discovered about our DNA are quite amazing. For instance, siblings with the same mother and father, except identical twins, share 50% of their DNA. Uncle-nephew or aunt-nephew/niece share 25% of their DNA while cousins share 12.5%. When the HGP was completed, it was found that humans contain approximately 25,000 genes. These genes differ in size from a few hundred DNA bases to over two million bases. Each individual inherits two copies of each gene, one from each parent. Humans are 99.9% genetically similar and it is the 0.1% difference that makes each of us unique.

One of the biggest beneficiaries of the HGP is the field of medicine. Data from a patient's genetic profile may assist doctors in selecting the appropriate drug or treatment and administering it at the appropriate dose or regimen. This new approached in healthcare is called personalised or precision medicine. Every day, new genetic data is being profiled and used to improve the implementation of personalised medicine. As more DNA data is understood, personalised medicine may soon become routine and a part of mainstream medicine.

Besides blood, DNA can be extracted from skin, saliva, amniotic fluid and other tissues. These specimens can be studied in a genetic lab for variations in genes, DNA or proteins. Services for such genetic testing are now available online. Many companies are now offering direct to consumer genetic testing which offers the public genetic tests without having to go through a medical doctor.

Anyone can now order a genetic test by contacting these companies which will then send test kits that provide manuals and tools for extracting a saliva sample or a buccal smear that contains DNA in the comfort of their home. The specimen can then be delivered to a laboratory where the search for unique variations in genes or DNA is carried out.

While such direct to consumer genetic testing has helped many people to know more about their DNA, it must be understood that genetic data analysis is complicated and contextual reliant, and the results can yield false positive and false negative outcomes.

Anyone who is worried about the outcome of a direct to consumer genetic test should ask for guidance from a certified clinical geneticist or a genetic counsellor. The public should understand that these new technologies and approaches are intended to assist clinicians and they are not without their limitations and shortcomings.

Geneticists, health professionals, educators and the general public should join hands in the effort to study our DNA and appreciate current developments in genetic research that contribute to advances that affect our lives.

PROF ZILFALIL ALWI

Head, Malaysian Node of the Human Variome Project (MyHVP) & President, Malaysian Society of Human Genetics (MSHG)

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Appreciating genetic research that affects our lives - The Star Online

The PCR technology, which requires cycles of extreme heating and cooling, can multiply small segments of DNA millions or even billions of times in a short period. It has proved crucial in many ways, including the identification of DNA at a crime scene and, more recently, detecting whether someone has the coronavirus.

PCR is fundamental to everything we do in molecular biology today, said Yuka Manabe, a professor of medicine in the division of infectious diseases at the Johns Hopkins University School of Medicine. Mullis couldnt have done PCR without a rock-stable enzyme.

April 27, 2021, 5:57 a.m. ET

Thomas Dale Brock was born on Sept. 10, 1926, in Cleveland. His father, Thomas, an engineer who ran the boiler room at a hospital, died when Tom was 15, pushing him and his mother, Helen (Ringwald) Brock, a nurse, into poverty. Tom, an only child, took jobs in stores to help her.

When he was a teenager, his interest in chemistry led him to set up a small laboratory with a friend in the loft of a barn behind his house in Chillicothe, Ohio, where he and his mother lived after his fathers death. The two friends experimented there with explosives and toxic gas.

After serving in the Navys electronics training program, Dr. Brock earned three degrees at Ohio State University: a bachelors in botany and a masters and a Ph.D. in mycology, the study of fungi.

With faculty jobs in short supply, Dr. Brock spent five years as a research microbiologist at the Upjohn Company before he was hired as an assistant professor of biology at Western Reserve University (now Case Western Reserve University) in Cleveland. After two years, he became a postdoctoral fellow in the universitys medical school. In 1960, he joined the department of bacteriology at Indiana University, Bloomington, where he taught medical microbiology.

Originally posted here:
Thomas Brock, Whose Discovery Paved the Way for PCR Tests, Dies at 94 - The New York Times

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Gaucher Disease Treatment Market 2021 | Size, Growth, Key Players, Supply Chain And Forecast : Acetelion Pharmaceutical (J&J Ltd.) Shire Human...

Soil Biochemist Asmeret Berhe Picked to Lead DOE Science Office

As part of a set of nominees announced last week, President Biden named Asmeret Berhe as his pick to lead the Department of Energys Office of Science. The office oversees a fleet of scientific user facilities and 10 of DOEs 17 national labs, and with a $7 billion budget, it is the federal governments largest funder of fundamental research in the physical sciences. Berhe currently is a biogeochemist at the University of California, Merced, specializing in how organic matter in the soil responds to climate change and other environmental perturbations. Originally from Eritrea in East Africa, she earned a bachelors degree from the University of Asmara in 1996 and a doctorate from the University of California, Berkeley in 2006, and she has been on the faculty at UC Merced since 2009. Berhes expertise accords with the Biden administrations focus on climate change, and she has been a frequent user of Pacific Northwest National Labs Environmental Molecular Sciences Lab, which is supported by the Office of Sciences Biological and Environmental Research program. She is also a proponent of increasing diversity and equity in STEM and is a key player in the ADVANCEGeo Partnership, a National Science Foundation-funded effort to combat sexual harassment and other issues affecting workplace climate in the geosciences. Biden has not yet named a nominee to be under secretary for science and energy, a position that oversees the Office of Science and DOEs applied energy R&D programs. For up-to-date information on nominations to key science positions, consult FYIs Federal Science Leadership Tracker.

President Biden also announced he is nominating oceanographer Richard Spinrad to lead the National Oceanic and Atmospheric Administration. Spinrad is currently a professor at Oregon State University and has held several roles at NOAA over the last two decades, serving as its chief scientist and as head of the Office of Oceanic and Atmospheric Research and National Ocean Service. While at NOAA, Spinrad co-chaired the White House committee that developed the nations first decadal ocean research strategy and worked to advance NOAAs proposal to establish a National Climate Service. Prior to joining NOAA, Spinrad served in leadership positions in research and oceanography offices within the U.S. Navy.

Several other nominations for research-related roles were also announced last week:

The National Academies announced last week that University of Florida biologist Robert Ferl and MIT materials scientist Krystyn Van Vliet will co-chair the next decadal survey on biological and physical sciences research in space. The survey will suggest priorities for NASAs program that supports research projects in spaceflight environments, such as aboard the International Space Station. Responsibility for the program was transferred from the agencys human exploration directorate to its science directorate in 2020. In addition to identifying emerging research frontiers, the survey will consider topics such as potential research campaigns, the role of commercially operated space platforms, opportunities for collaboration with international partners, and the limited lifetime of the ISS. The study is expected to be completed in 2023.

At the White Houses climate leadership summit last week, President Biden announced that by 2030 the U.S. will halve its greenhouse gas emissions from 2005 levels, in an effort to set higher expectations ahead of the United Nations climate conference later this year. Presidential Climate Envoy John Kerry called the goal ambitious but appropriate and achievable, saying that meeting it will require new technologies in areas such as battery storage and carbon capture systems. To that end, the White House Council of Economic Advisors released a report last week outlining actions the U.S. could take to accelerate energy innovation and encourage greater private-sector R&D investment. Senior administration officials also announced new multinational initiatives, including a forum with several other oil and gas-producing nations to develop pragmatic net-zero emission strategies, and an agreement with India to speed up clean energy deployment.

At a House Science Committee hearing last week, lawmakers discussed the prospects of creating a climate service to facilitate access to climate information from across the federal government. Environment Subcommittee Chair Mikie Sherrill (D-NJ) highlighted the potential for growing inequities in access to climate and weather data if the private sector takes too large a role, saying that not all communities can hire consultants or a climate services firm to help them incorporate climate risk into their resilience planning. Pointing to two bills she has sponsored aimed at improving understanding of flood risks, she said they are just one piece of the puzzle when it comes to improving authoritative and actionable federal tools and technical assistance for climate adaptation. While Committee Ranking Member Frank Lucas (R-OK) has stressed the need for climate information in areas such as agriculture, he and Subcommittee Ranking Member Stephanie Bice (R-OK) questioned whether a dedicated service is necessary. Lucas argued the National Oceanic and Atmospheric Administration already serves that function and that establishing a new duplicative service only serves to create more red tape and hurdles to our budding weather industry.

At a meeting last week, the Senate Foreign Relations Committee approved bipartisan legislation aimed at better positioning the U.S. to compete with China. It includes a provision empowering the Committee on Foreign Investment in the United States (CFIUS) to block universities from accepting certain foreign gifts and contracts, including ones worth more than $1 million that relate to critical technologies. Committee Ranking Member Jim Risch (R-ID) has said the provision is his top priority, citing a desire to help prevent the Chinese government from exerting influence on universities and to address risks of intellectual property theft. A group of university associations wrote to the committee before the meeting to oppose the provision, stating it would require expensive and time-consuming reviews of a wide range of university gifts and contracts against unknown and ill-defined criteria by an agency not designed or equipped to carry out this task. They also argued that uncertainty created by what might be blocked by CFIUS reviews will be a significant disincentive for philanthropic giving, undercutting U.S. competitiveness. American Council on Education President Ted Mitchell told Bloomberg that granting such a denial authority over research projects not funded by the federal government would be unprecedented. His organization has estimated that about 700 gifts and contracts that were reported to the Department of Education in 2019 could be subject to review under the proposal. To address some of these concerns, the committee adjusted the provision to require CFIUS to consider input from science agencies. The bill now heads to the Senate floor, where it could be bundled with the Endless Frontier Act.

At a Senate hearing last week, the National Institutes of Health provided updated statistics on its investigation of scientists for policy violations such as failing to disclose substantial employment ties with foreign entities, mainly in China. NIH extramural research head Mike Lauer told the committee the agency has identified more than 500 scientists of concern to date and that more than 100 have been removed from the NIH ecosystem through a variety of ways resignations, terminations, premature retirements, internal debarments. He emphasized that the violators represent only a small fraction of NIH grantees and remarked, We remain conscious of how these [enforcement] actions could affect the morale of honest and dedicated foreign researchers, particularly in the context of a pandemic that has exacerbated acts of discrimination and harassment against Asian Americans. The vast majority of Chinese scientists working in America are committed to the cause of expanding knowledge for the betterment of humankind, and to do so in a fair and honest way. We must say this at every opportunity. Senators generally did not question NIHs investigative approach to date, though Health Committee Ranking Member Richard Burr (R-NC) expressed concern that no one entity is responsible for identifying cases in which scientists have falsified information or violated rules.

Last week, the National Academies released a report from a study evaluating the U.S. research enterprises ability to monitor and help prevent the international proliferation of nuclear weapons and fissile material. Congress mandated the study and set a short deadline for it after deeming updates the National Nuclear Security Administration submitted on the subject to be unsatisfactory. However, because of disruptions caused by the COVID-19 pandemic, the Academies divided the study into two phases. The new report conveys findings from the first phase, which covers work the committee was able to undertake immediately. It offers 16 recommendations, including formalizing interagency coordination of nonproliferation efforts, expanding NNSAs testbed infrastructure and nuclear nonproliferation stewardship program, and bolstering the agencys technology transition activities. The report notes such efforts would require additional funding, but defers discussion of specific amounts to the studys second phase. The studys chair to date, former Sandia National Labs Director Jill Hruby, was recently nominated by President Biden to lead NNSA.

Leaders from the Defense Advanced Research Projects Agency and the R&D arms of the three military departments updated the Senate Armed Services Committee last week on recent efforts to increase innovation capabilities. Among the programs they spotlighted were Army Futures Commands Team Ignite, the Navys NavalX, and the Air Force Research Labs Transformational Capabilities Office and Vanguard programs, all of which aim to facilitate R&D collaborations and spur technology projects that respond to pressing military needs. The witnesses also pointed to exercises such as the Armys soldier touch points and Project Convergence and the Navys Integrated Battle Problem 21, which concludes this week, as key examples of efforts to integrate the development of technology and military tactics.

Lawmakers introduced a variety of science-focused bills in recent weeks, including ones focused on the STEM workforce, research security, quantum information science, energy research, manufacturing, and weather and climate forecasting:

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The Week of April 26, 2021 - FYI - FYI: Science Policy 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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Top Key Players Profiled in this report are:

Acetelion Pharmaceutical (J&J Ltd.), Erad Therapeutic Inc., JCR Pharmaceuticals Co Ltd., Shire Human Genetics Therapies, Inc., Sonafi (Genzyme Corporation), Pfizer Inc..

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Global Gaucher Disease Treatment Market Segmentation:

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

Market Segmentation by Application: Hospital, Clinic, Research institute.

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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