Category Archives: Genome

All human beings are genetically very similar, sharing approx. 99.9% of the DNA code. The remaining 0.1% explains the natural differences between people, including our predisposition to hereditary diseases. Although sequencing of our genetic material is becoming a routine diagnostic analysis, it is unfortunately far from simple to determine whether specific small differences in our DNA affect our risk of developing disease. The usefulness of DNA sequencing is therefore often limited to the few cases where it is already known if a gene variant increases the risk of disease.

Researchers at the Department of Biology, University of Copenhagen, have now contributed to solving this problem for a specific gene calledGCK. The study has just been published inGenome Biology.

Rasmus Hartmann-Petersen, Professor at the Department of Biology, explains:

- TheGCKgene, which codes for the enzyme glucokinase, regulates the secretion of insulin in the pancreas.GCKgene variants can therefore cause a form of hereditary diabetes. Although the connection betweenGCKand diabetes has been known for several years, we have, until now, only known the effect of a few percent of the possible variants of this gene.

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Together with colleagues at the PRISM centre, UCPH, who are currently studying the effects of genetic variations, the researchers measured the effect of all of the possible variants ofGCK.

PhD student Sarah Gersing, who is the first author of the article, explains:

- We used yeast cells to measure the activity of over 9000 differentGCKvariants. In this way, we were able to generate a list of the effects both of already known variants, but also of variants that patients might carry, but that have not yet been discovered. This provides us with a reference for futureGCKdiagnostics.

Prof. Kresten Lindorff-Larsen, who heads the PRISM centre, continues:

- Our results are quite unique; not only have we measured the effect of several thousand variants, but for many of the variants, we can now explain what they do to the glucokinase protein. In our centre, we have gathered researchers working across a range of research fields, bridging from data analysis and biophysics to cell biology and medicine, and it is now clear how this broad approach pays off in explaining how diseases arise.

Gene variants ofGCKcan, among other things, cause a form of hereditary diabetes called "GCK maturity onset diabetes of the young" (GCK-MODY).

Professor of genetics, dr. med. Torben Hansen, who is also a member of the PRISM centre, says: - "Although GCK-MODY patients exhibit elevated blood glucose levels, this is often not associated with complications. Hence, unlike other forms of diabetes, most GCK-MODY patients might therefore not need to be treated with medication. However, due to missing or inaccurate genetic data, more than half of the GCK-MODY patients are classified with having either type 1 or type 2 diabetes and are therefore unnecessarily medicated. We estimate that approx. 1% of those who have recently been diagnosed with type 2 diabetes in Denmark have a variant in theGCKgene, meaning that they dont need treatment, or need to be treated differently. Our new map ofGCKvariants can hopefully help give these patients a more correct diagnosis.

The next step for PRISM is to transfer these methods to other genes and diseases.

- "We are already well underway with genes involved in e.g., neurodegenerative diseases, and we are trying to develop precise methods that can provide us with insights on disease mechanisms", says Rasmus Hartmann-Petersen.

Kresten Lindorff-Larsen continues:

- "Our data gives us the opportunity to test and develop computational models for variant effects, which will then be transferable to other genes and diseases."

- Now, we have measured the effects of almost all variants ofGCK, giving us knowledge on which variants that function, and which that do not. The next step is to understand why, and how the same underlying molecular mechanisms can give rise to a wide range of different diseases", concludes Sarah Gersing.

Reference:Gersing S, Cagiada M, Gebbia M, et al. A comprehensive map of human glucokinase variant activity. Genome Biol. 2023;24(1):97. doi:10.1186/s13059-023-02935-8

This article has been republished from the following materials. Note: material may have been edited for length and content. For further information, please contact the cited source.

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Novel Genomic Approach Ensures Better Diagnosis of Hereditary ... - Technology Networks

Intellia Therapeutics: Revolutionary Genome Editing Techniques

Intellia Therapeutics (NASDAQ:NTLA), the clinical stage genome editing company, is all set to release its quarterly earnings data before the market opens on Thursday, May 4th. This Boston-based biotech firm engages in developing curative therapeutics that fix disease-associated genes with a single treatment.

What sets Intellia apart from others in the field is their revolutionary CRISPR/Cas9 system. Using a highly advanced gene editing technology, Intellia creates engineered cells, which help treat oncological and immunological diseases. The capability of CRISPR/Cas to permanently edit or correct disease-associated genes apply to patients for their lifetime, requiring no repeated dosing.

BMO Capital Markets upgraded Intellia from a market perform rating to an outperform rating and raised their price target for the company from $54.00 to $57.00 in March of 2017. Notably, William Blair restated an outperform rating on shares of Intellia in late March. As per reports, Wells Fargo & Company lowered Intellias price target from $135.00 to $120.00 and set an overweight rating on the stock in early January of this year.

Citigroup also provided support by upgrading Intellia from a sell rating to a neutral rating while dropping its price target for the firm from $48.00 to $39.00 in late January 2017. Finally, Oppenheimer decreased its price target on NTLA from $115.00 to $93.00 but gave it an outperform rating in late February based on current economic growth indicators.

All told, one equities research analyst gave the stock a sell-rating while three have issued hold ratings throughout 2016-17 period when these analyses were conducted by various firms. Overall, sixteen analysts rated the stock as buy. Data from Bloomberg reveals its consensus target price is $85.67 and the consensus rating is Moderate Buy.

Intellias gene-editing techniques have several utilities in healthcare, including basic research in genetics, cell-line engineering for producing beneficial proteins, development of advanced gene therapies and improving agriculture for food production.

We look forward to Intellias earnings data later this week to inform us further as to how very clear evidence suggests a burgeoning realm of opportunities.

Intellia Therapeutics Inc.s latest earnings report released on February 23rd, 2021, showed a quarter full of ups and downs for the biotechnology company. The report revealed that Intellia posted ($1.40) per share earnings for Q4, meeting the consensus estimate of ($1.40), while accumulating an impressive revenue of $13.60 million compared to analysts expectations of $10.71 million.

Despite Q4s net profit taking a hit as evidenced by the negative return on equity of 48.70%, Intellia realized an increase in revenue by 5.4% from the same quarter in the previous year. This is remarkable given that the previous years net earnings per share were ($1.09).

Analysts have projected that IntelliTherapeutics is set to buck up its operations with losses predicted to stand at $6 EPS both for this fiscal year and the next one to follow yet to come.

For investors interested in dabbling in this firm, at-$36.29 trading price within NASDAQ exchange rates located today, hovering between lowest and highest markers of $32.44 and $76.45 respectively within its 52-week game plan a market capitalization valuation of $3.20 billion is priced into NTLA stock.

Investment experts at Atria Wealth Solutions Inc., Canada Pension Plan Investment Board, Dynamic Technology Lab Private Ltd, Glenmede Trust Co-NA and First Republic Investment Management Inc have added new stakes totaling about $1,404 million some few years ago.

Nonetheless, Intellia Therapeutics has left investors starved since unrelenting market forces have weighed aggressively on their shares over time may probably need strategic repackaging efforts to fix their brands appeal amongst institutional clients? Time will tell if these sneaky tweaks will lead NTLA on a better path towards profitability soon enough!

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Intellia Therapeutics: Leading the Way in Revolutionary Genome ... - Best Stocks

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Visual tracking of viral infection dynamics reveals the synergistic ... - Nature.com

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Belarus: EU and WHO deliver equipment for research of genomes of infectious disease agents  EIN News

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Belarus: EU and WHO deliver equipment for research of genomes of infectious disease agents - EIN News

DNA is the genetic material or code that tells cells in the body how to replicate themselves. Within this code are genes, which are specific segments of DNA that influence certain aspects of growth and health. Collectively, scientists refer to all of an organisms genes as a genome.

Almost every cell in an organisms body contains a complete copy of its genome, packaged into chromosomes. Chromosomes are thread-like structures consisting of DNA and protein that sit inside cells.

This article will explain what DNA, genes, and genomes are. It will also look at the differences between a gene and a genome and answer some frequently asked questions.

Genes consist of DNA, which is the genetic material that tells cells how to reproduce. Strands of DNA look like a twisted ladder, which scientists call a double helix.

DNA consists of four chemicals, which are known as bases. They are:

The order of these chemical bases in a persons DNA determines how their cells grow and develop.

A gene is a segment of DNA that contains sequences of many bases, varying in size from a few hundred to 2 million. Each gene affects a specific aspect of health. For example, some genes contain instructions on how to make specific proteins.

Parents pass on their genes to their biological children. As a result, each person has two copies of each human gene one from each parent. In total, the human body has between 20,000 and 25,000 genes.

The word genome refers to all the genetic material in an organism. The human genome consists of around 3 billion DNA base pairs.

Almost every cell in the body contains a complete copy of the organisms genome, tightly packaged inside its chromosomes. Chromosomes are present in the nucleus of every cell.

Most of the human genome is the same in all people. However, about 0.001% of the genetic material will be different from person to person. This figure is even smaller in people who are related to each other.

Below are some of the differences between genes and genomes:

Genes influence health in two main ways:

Some variations in genes directly result in health conditions. These conditions are known as genetic disorders. Genetic disorders can be:

In addition to inheriting genetic disorders from parents, people can also spontaneously get them if the gene mutates during fetal development or later in life. This can result in a person having a genetic variation that their parents do not have themselves.

Learn more about autosomal inheritance.

In other cases, genes are merely risk factors for a condition. This means they can raise or lower the risk of someone getting a disease but do not directly cause it.

For example, some people carry genes that raise the risk of certain cancers, diabetes, or heart disease. Doctors call this a nonmodifiable risk factor because a person cannot change their genes.

However, having genes that raise the risk of a condition does not guarantee that a person will get it. Different genes, and different combinations of genes, pose different levels of risk. A persons environment, diet, and lifestyle also influence the risk.

Working on modifiable risk factors, which are things a person can control, can help offset the elevated risk of developing a condition.

Other terms doctors use when talking about genes include:

A gene is a specific segment of DNA that tells cells how to function. A genome is the entirety of the genetic material inside an organism. The human genome consists of between 20,000 and 25,000 genes.

Most of the human genome is the same from person to person, but variations in genes can influence someones health, appearance, and risk of developing certain diseases. There are also some conditions that occur as a direct result of specific genetic variants, such as sickle cell disease.

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Gene vs. genome: Definition, function, and impact

Big cog in the wheel: As Covid worries reappear, Insacogs genome sequencing ability must be aided by govts  Times of India

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Big cog in the wheel: As Covid worries reappear, Insacogs genome sequencing ability must be aided by govts - Times of India

CapitalGainsReport Sector Spotlight: Healthcare Penny Stocks On The Move (ARDX, WHSI, BNGO)  Marketscreener.com

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Genome Insight and Kun-hee Lee Child Cancer & Rare Disease Project Team of SNUH (Seoul National University Hospital) Made an Agreement About a Pediatric Cancer Whole Genome Collaborative Study  Business Wire

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Genome-wide association study reveals distinct genetic associations related to leaf hair density in two lineages of wheat-wild relative Aegilops...