Monday, July 15, 2024

Gene for AutoimmuneThyroid Disease

Scientists uncover novel major risk gene for autoimmune thyroid disease


Scientists at deCODE genetics have published a study in Nature Communications, comparing over 110 thousand patients with autoimmune thyroid disease (AITD) from Iceland, Finland, UK and U.S. with 1.1 million controls. The findings of this study illustrate how a multiomics approach can reveal potential drug targets and safety concerns.


AITD affects over 5% of people during their lifetime and is the most common cause of thyroid dysfunction. The scientists found 290 sequence variants that associate with AITD and 115 of those had not been reported before.

Two of the newly discovered sequence variants with the largest effect on the risk of AITD are in a gene that codes for LAG-3 (Lymphocyte-Activation Gene-3) which is a co-inhibitory receptor that is important for immune homeostasis, and a target of immune checkpoint inhibitor therapy for cancer. These variants have a founder effect in Iceland and Finland and demonstrate the power of bottlenecked populations to identify rare disease-associated variants with high risk, that provide insight into the pathogenesis and potential identification of drug targets.

The Icelandic LAG3 variant confers a 3.4-fold increased risk of AITD. It generates a novel start codon for protein coding and results in a reduced capacity to induce expression of the LAG3 gene in T-cell subsets. Both activated and exhausted T-cells as well as immortalized B-cells have lower expression of LAG-3 protein on their surface and in cell supernatant.

The carriers of this variant have only half the plasma LAG-3 level of non-carriers. The variant associates with a five-fold increased risk of vitiligo, but vitiligo is like thyroid dysfunction a potential side-effect of LAG-3 inhibiting drugs, which unleash immune responses to fight cancer and can have autoimmune consequences.

Taken together, this report describes a novel major risk gene for autoimmune thyroid disease, and how the risk variant affects the expression of the gene on relevant cells and its protein product, LAG-3, in blood, thereby demonstrating its functional importance, which is akin to drugs that inhibit LAG-3.


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Sunday, July 14, 2024

Development of an entirely cloned cDNA

Development of an entirely cloned cDNA-based reverse genetics system for Tofla virus of orthonairovirus






X chromosome loss in older women

Inherited genetic factors may predict the pattern of X chromosome loss in older women


Researchers have identified inherited genetic variants that may predict the loss of one copy of a woman’s two X chromosomes as she agesExit Disclaimer, a phenomenon known as mosaic loss of chromosome X, or mLOX. These genetic variants may play a role in promoting abnormal blood cells (that have only a single copy of chromosome X) to multiply, which may lead to several health conditions, including cancer. The study, co-led by researchers at the National Cancer Institute, part of the National Institutes of Health, was published June 12, 2024, in Nature.

To better understand the causes and effects of mLOX, researchers analyzed circulating white blood cells from nearly 900,000 women across eight biobanks, of whom 12% had the condition. The researchers identified 56 common genetic variants—located near genes associated with autoimmune diseases and cancer susceptibility—that influenced whether mLOX developed. In addition, rare variants in a gene known as FBXO10 were associated with a doubling in the risk of mLOX.

In women with mLOX, the investigators also identified a set of inherited genetic variants on the X chromosome that were more frequently observed on the retained X chromosome than on the one that was lost. These variants could one day be used to predict which copy of the X chromosome is retained when mLOX occurs. This is important because the copy of the X chromosome with these variants may have a growth advantage that could elevate the woman’s risk for blood cancer.

The researchers also looked for associations of mLOX with more than 1,200 diseases and confirmed previous findings of an association with increased risk of leukemia and susceptibility to infections that cause pneumonia.

The scientists suggest that future research should focus on how mLOX interacts with other types of genetic variation and age-related changes to potentially alter disease risk.

Who

Mitchell Machiela, Sc.D., M.P.H., Division of Cancer Epidemiology and Genetics, National Cancer Institute

The Study

“Population analyses of mosaic X chromosome loss identify genetic drivers and widespread signatures of cellular selection” appears June 12, 2024, in Nature.

About the National Cancer Institute (NCI): NCI leads the National Cancer Program and NIH’s efforts to dramatically reduce the prevalence of cancer and improve the lives of people with cancer. NCI supports a wide range of cancer research and training extramurally through grants and contracts. NCI’s intramural research program conducts innovative, transdisciplinary basic, translational, clinical, and epidemiological research on the causes of cancer, avenues for prevention, risk prediction, early detection, and treatment, including research at the NIH Clinical Center—the world’s largest research hospital. Learn more about the intramural research done in NCI’s Division of Cancer Epidemiology and Genetics. For more information about cancer, please visit the NCI website at cancer.gov or call NCI’s contact center at 1-800-4-CANCER (1-800-422-6237).

About the National Institutes of Health (NIH): NIH, the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit nih.gov.

 

Friday, July 12, 2024

Immunogenetics

Immunogenetics:

Immunogenetics is the study of the genetic basis of the immune response. It combines aspects of immunology and genetics to understand how genetic variations affect the immune system's functioning and its response to pathogens.

Here are some key points about immunogenetics:

1. Major Histocompatibility Complex (MHC): MHC genes play a crucial role in the immune system by presenting peptide fragments to T cells, which then initiate an immune response. Variability in MHC genes influences individual susceptibility to infectious diseases, autoimmune diseases, and transplant rejection. 

2. Autoimmune Diseases: Genetic predispositions can lead to autoimmune diseases, where the immune system mistakenly attacks the body's own tissues. Studies in immunogenetics help identify specific genes and genetic mutations associated with these conditions.

3. Allergies and Asthma: Genetic factors contribute to the development of allergic reactions and asthma. Research in this field aims to understand the genetic mechanisms underlying these conditions to improve diagnosis and treatment.

4. Infectious Diseases: Host genetic factors can influence susceptibility to infectious diseases. Immunogenetics studies help identify genetic variants that affect how individuals respond to infections, which can guide the development of personalized medicine approaches.

5. Cancer Immunotherapy: Understanding the genetic makeup of both the tumor and the patient’s immune system can improve the effectiveness of immunotherapies. Genetic profiling can help predict which patients are likely to respond to specific treatments.

6. Transplantation: Genetic matching of donor and recipient MHC (also known as HLA in humans) is crucial for the success of organ and tissue transplants. Immunogenetics research helps improve matching techniques and reduces the risk of transplant rejection.

7. Vaccines: Genetic factors can influence individual responses to vaccines. Research in immunogenetics aims to develop more effective vaccines and personalized vaccination strategies based on genetic profiles.

immune response, MHC, autoimmune diseases, allergies, asthma, infectious diseases, cancer immunotherapy, transplantation, vaccines, genetic predisposition, T cells, B cells, HLA, antigen presentation, genetic susceptibility, personalized medicine, immune system, genetic mutations, host-pathogen interactions

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Scientists Uncover Genetic Disorder

 Scientists uncover genetic disorder that may affect thousands around world

Mutation in RNU4-2 gene linked to severe developmental delay, with hundreds of people already diagnosed


A genetic disorder that causes severe disabilities in children and adults has been discovered by researchers who believe the newly identified condition could affect hundreds of thousands of people around the world.

Scientists have already diagnosed hundreds of people in the UK, Europe and the US after examining their DNA and spotting mutations in the gene linked to the disorder. Far more are expected to be found as further testing takes place.

The condition causes severe developmental delay and many of those diagnosed are unable to speak, are fed through a tube and have seizures. The disorder produces characteristic facial features, such as large cupped ears, full cheeks and a mouth with downturned corners.

“It’s not unusual to discover a neurodevelopmental disorder, but it is incredibly unusual to discover one that is this common,” said Nicola Whiffin, an associate professor at the Big Data Institute and Centre for Human Genetics at the University of Oxford. “This is surprisingly frequent. There are a lot of questions as to why we haven’t seen this before.”

About 60% of people with a neurodevelopmental disorder (NDD) remain undiagnosed after comprehensive genetic testing, leaving them in the dark about the underlying cause.

A formal diagnosis can help patients and families by identifying the reason for the condition and connecting them with others to form support groups. For scientists, knowing the genetics of an NDD paves the way for broader testing and research on future therapies.

Most work that aims to uncover the genetic causes of NDDs focuses on genes the body uses to make proteins, the building blocks of life. But after analysing the complete genomes of nearly 9,000 people with undiagnosed NDDs, an international collaboration led by Whiffin made a chance discovery.

Dozens of the patients, all of whom were enrolled on the 100,000 Genomes Project, led by Genomics England and NHS England, had mutations in the same gene, RNU4-2, which is not used to make proteins.

Mutations in the gene are estimated to account for nearly 0.5% of all neurodevelopmental disorders globally, a small proportion but one that amounts to hundreds of thousands of people. Details are published in Nature.

“We know of hundreds of patients, but one of the key issues is that we are limited to making diagnoses in patients where we have their whole genome,” Whiffin said.Decoding patients’ entire genetic code is becoming common in the UK and other developed countries, but some nations do not have the means to read whole genomes at scale.

One hope for the future is to use artificial intelligence tools to recognise the disorder from facial features alone. If that pans out, doctors could diagnose patients with the disorder by simply uploading their portrait for analysis.

Three years ago, Nicole Cedor, the mother of 10-year-old Mia Joy, was told there was nothing more doctors could do to identify her daughter’s condition. She was recently diagnosed with the disorder.

“We resigned ourselves to the fact that we may never find out. So, you can imagine our shock to get this news,” she said. “We are so grateful to each person on the research teams that worked tirelessly to find this diagnosis. It is one thing to write papers and crunch all that data, then another to see a family with a precious unique child who is living it day by day. This where the data meets real life. We like to refer to RNU4-2 as “renew”, as our family is being renewed by this new information and hope for the future.”

Whiffin said there were multiple benefits from having a diagnosis. Some mothers fear they may have caused the disorder by doing something wrong in pregnancy, which the diagnosis puts to bed. Perhaps the most important benefit is that affected families can come together and form groups to lobby for further research and support.

There was also hope for the future, Whiffin said. “We are at a really exciting point where we have all these genome-targeted therapies,” she said. “There’s a question around whether we can make much difference to something that is so developmental, but perhaps we can do something to improve the seizures, to improve quality of life. This at least opens the door to trying those things.”

Dr Anne O’Donell-Luria, co-director of the Center for Mendelian Genomics at the Broad Institute of MIT and Harvard, identified more than 10 families affected by the disorder after Whiffin shared details of the discovery. “As we reached out to other collaborating researchers, they also identified an unprecedented number of diagnoses including from many patients and families who have long been seeking answers,” she said.

“Not having a diagnosis or an explanation for why the medical problems are occurring leaves patients and their families without a community, not knowing what other complications might be coming, and unable to know what steps to take next.”

O’Donnell-Luria said that identifying the RNU4-2 diagnosis was an important first step towards a better understanding of the underlying biology of the condition, and provided hope and a potential research path towards a therapy.

Thursday, July 11, 2024

Gut Bacteria in Living Mice

 Scientists edit the genes of gut bacteria in living mice

A ‘base editor’ successfully modified a gene in more than 90% of Escherichia coli bacteria without unwanted side effects.

A laboratory mouse looks over the green gloved fingers of a technician in a laboratory.

Making genetic tweaks to gut bacteria inside mice has been challenging.Credit: Robert F. Bukaty/AP via Alamy

Scientists have designed a gene-editing tool that can modify bacterial populations in the gut microbiome of living mice1.

The tool — a type of ‘base editor’ — modified the target gene in more than 90% of an Escherichia coli colony inside the mouse gut. “We were dreaming of being able to do that,” says Xavier Duportet, a synthetic biologist who co-founded Eligo Bioscience, a biotechnology company in Paris. The findings were published today in Nature.

Several research teams have used CRISPR—Cas editing systems to kill harmful bacteria in the guts of mice24. But Duportet and his colleagues wanted to edit bacteria in the gut microbiome without killing them.

To do this they used a base editor, which swaps one nucleotide base with another — converting an A to a G, for example — without breaking the DNA double strand. Until now, base editors have failed to modify enough of the target bacterial population to be effective. This is because the vectors they were delivered in only targeted receptors that are common in bacteria cultured in the laboratory.

Innovative delivery system

To address these hurdles, the team engineered a delivery vehicle using components of a bacteriophage — a virus that infects bacteria — to home in on several E. coli receptors that are expressed in the gut environment. This vector carried a base editor that targeted specific E. coli genes. The researchers also refined the system to prevent the genetic material it delivered from replicating and spreading once it is inside the bacteria.

The team delivered the base editor into mice and used it to change A to G in the E. coli gene that produces β-lactamases — enzymes that drive bacterial resistance to several types of antibiotic. Some eight hours after the animals received the treatment, around 93% of the targeted bacteria had been edited.

The researchers then adapted the base editor so it could modify an E. coli gene that produces a protein that is thought to play a part in several neurodegenerative and autoimmune diseases. The proportion of edited bacteria hovered around 70% three weeks after the mice had been treated. In the laboratory, the scientists could also use the tool to edit strains of E. coli and Klebsiella pneumoniae, which can cause pneumonia infections. This suggests that the editing system can be adapted to target different bacteria strains and species.

This base-editing system represents a “critical leap forward” in developing tools that can modify bacteria directly inside the gut, says Chase Beisel, a chemical engineer at the Helmholtz Institute for RNA-based Infection Research in Würzburg, Germany. The study “opens the possibility of editing microbes to combat disease, all while preventing the engineered DNA from spreading”, he adds.

The next step for Duportet and his colleagues is to develop mouse models with microbiome-driven diseases to measure whether specific gene edits have a beneficial impact on their health.

Chromosome 21

Chromosome 21

Chromosome 21 is one of the 23 pairs of chromosomes in humans. It is the smallest human chromosome, consisting of about 48 million base pairs and representing approximately 1.5% of the total DNA in cells. Chromosome 21 is best known for its association with Down syndrome, also known as trisomy 21, which occurs when an individual has three copies of chromosome 21 instead of the usual two.

Key Points about Chromosome 21:

  1. Down Syndrome: This genetic disorder is characterized by the presence of an extra copy of chromosome 21. It leads to developmental and intellectual delays, distinctive facial features, and an increased risk of certain medical conditions.
  2. Genes: Chromosome 21 contains around 200-300 genes. Some of the notable genes include APP (associated with Alzheimer's disease), SOD1 (involved in amyotrophic lateral sclerosis), and ETS2 (linked to various developmental processes).
  3. Research: Due to its link with Down syndrome, chromosome 21 is a focus of extensive genetic and medical research. Scientists study its genes to understand their functions and to develop therapies for conditions associated with abnormalities in this chromosome.
  4. Genomic Studies: Chromosome 21 was the second human chromosome to be fully sequenced, providing valuable insights into its structure and the genetic information it carries
#Chromosome21 #Genetics #DownSyndrome #Trisomy21 #HumanBiology #GeneticResearch #GeneticDisorders #PrenatalScreening #IntellectualDisability #MedicalResearch #GeneticTesting #CancerResearch #HumanChromosomes #DevelopmentalDisorders #GeneticsAwareness #ScientificResearch #GeneticAnomalies #Healthcare #GeneticSupport #BiomedicalResearch

Chromosome 21, Down syndrome, trisomy 21, intellectual disability, genetic testing, prenatal screening, genetic disorders, human chromosomes, developmental disorders, medical research, genetics, cancer research, genetic anomalies, scientific research, genetics awareness, healthcare, biomedical research, human biology, genetic support, research.

Wednesday, July 10, 2024

Retinitis Pigmentosa Gene Therapy

Ocugen has dosed the first patient with retinitis pigmentosa (RP) in its phase 3liMeliGhT trial (NCT06388200) of OCU400 gene therapy.1



“Patients with RP associated with mutations in multiple genes currently have no therapeutic options. As a retinal surgeon, I am encouraged by the therapeutic potential of OCU400 to provide long-term benefit to RP patients,” Lejla Vajzovic, MD, FASRS, Director, Duke Surgical Vitreoretinal Fellowship Program, Associate Professor of Ophthalmology with Tenure Adult and Pediatric Vitreoretinal Surgery and Disease, Duke University Eye Center, and Retina Scientific Advisory Board Chair, Ocugen, said in a statement.1 “OCU400 is a novel modifier gene therapy approach that could initiate a paradigm shift in the treatment of RP and to field of ophthalmology.”

The phase 3 trial will last 1 year and have a sample size of 150 participants, at least 8 years of age, half with RHO gene mutations and half that have gene agnostic RP. Each arm is randomized 2:1 to receive either 2.5 x 1010 vg/eye of OCU400 or control. The study’s primary endpoint is achieving an improvement of at least 2 Lux levels from baseline in the study eyes on Luminance Dependent Navigation Assessment (LDNA). Ocugen announced that it had received investigational new drug application clearance for a phase 3 trial of OCU400 in April 2024.2

“The current OCU400 Phase 3 study is very exciting and gives hope for thousands of individuals with RP,” Benjamin Bakall, MD, PhD, Director, Clinical Research, Associated Retina Consultants (ARC) and Clinical Assistant Professor, University of Arizona, College of Medicine – Phoenix, added.2 “I am encouraged that we may have a potential treatment option to preserve or improve the vision in RP patients regardless of gene mutation, and very pleased that the first patient dosing in the Phase 3 liMeliGhT clinical trial was performed at ARC.”

READ MORE: Multicharacteristic Opsin Gene Therapy Improves BCVA, MLSDT in Retinitis Pigmentosa

OCU400 has previously been evaluated in a phase 1/2 trial, data from which suggests positive trends in Best-Corrected Visual Acuity (BCVA) and Multi-Luminance Mobility Testing (MLMT), and Low-Luminance Visual Acuity (LLVA) among treated eyes. In this study, most patients (89%; n = 16/18) demonstrated preservation or improvement in the treated eye either on BCVA or LLVA or MLMT scores from baseline, and 80% (n = 8/10) of patients with an RHO mutation experienced either preservation or improvement in MLMT scores from baseline. Most (78%; n = 18) also had preservation or improvement in treated eyes in MLMT scores from baseline.

“We are grateful for our continued collaboration with Dr. Bakall and the team at ARC,” said Huma Qamar, MD, MPH, Chief Medical Officer, Ocugen, added.1 "We are excited to expand our enrollment to include more centers and patients representing a diverse array of RP gene mutations, which will be a validation of this novel gene therapy platform. We will provide updates as our progress continues."

“Each clinical milestone achieved by OCU400 brings us closer to providing a one-time treatment for life to patients living with RP,” Shankar Musunuri, PhD, MBA, Chairman, CEO and cofounder, Ocugen, added.1 “Dosing the first patient is especially significant and makes our dedication to serving RP patients—300,000 in the U.S. and Europe and 1.6 million worldwide—more tangible.”
REFERENCES
1. Ocugen, Inc. Announces First Patient Dosed in Phase 3 liMeliGhT Clinical Trial for OCU400—First Gene Therapy in Phase 3 with a Broad Retinitis Pigmentosa Indication. June 20, 2024. https://www.globenewswire.com/news-release/2024/06/20/2901513/0/en/Ocugen-Inc-Announces-First-Patient-Dosed-in-Phase-3-liMeliGhT-Clinical-Trial-for-OCU400-First-Gene-Therapy-in-Phase-3-with-a-Broad-Retinitis-Pigmentosa-Indication.html
2. Ocugen, Inc. Announces U.S. FDA Clearance of IND Amendment to Initiate OCU400 Phase 3 Clinical Trial — First Gene Therapy to Enter Phase 3 With a Broad Retinitis Pigmentosa Indication. News release. Ocugen. April 8, 2024. https://ir.ocugen.com/news-releases/news-release-details/ocugen-inc-announces-us-fda-clearance-ind-amendment-initiate/

Thousands of high-risk cancer gene variants

The study uncovered over 5,000 genetic variations that allow some malignancies. It also explored possible therapeutic target for treating these cancers.


Scientists have uncovered over 5,000 genetic variations that allow some malignancies to grow, as well as a possible therapeutic target for treating or even preventing these cancers from arising.


Researchers from the Wellcome Sanger Institute, The Institute of Cancer Research, London, and the University of Cambridge evaluated the health effects of genetic alterations in BAP1, a 'tumour defence' gene. They discovered that almost one-fifth of these potential mutations were pathogenic, considerably raising the likelihood of developing malignancies of the eye, lung lining, brain, skin, and kidney.



Gene variants of cancer:

The findings, published in Nature Genetics, are freely available so that they can be immediately used by doctors to help diagnose patients and choose the most effective therapies for them1. Importantly, as all possible variants were assessed, the findings benefit individuals from diverse ethnic backgrounds, who have historically been underrepresented in genetics research.

ALSO READ: Cancer treatment: Things you didn't know about chemotherapy

The team also uncovered a link between certain disruptive BAP1 variants and higher levels of IGF-1, a hormone and growth factor. This discovery opens the door to developing new drugs that could inhibit these harmful effects, potentially slowing down or preventing the progression of certain cancers.

The BAP1 protein acts as a powerful tumour suppressor in the body, protecting against cancers of the eye, lung lining, brain, skin, and kidney. Inherited variants that disrupt the protein can increase a person's lifetime risk of developing these cancers by up to 50 per cent2, typically occurring around middle age.

ALSO READ: Salt may increase stomach cancer risk by 40 percent: Here’s the connection

Detecting these variants early through genetic screening can guide preventative measures, greatly enhance treatment effectiveness and improve quality of life for individuals affected. However, until now, there has been limited understanding of which specific genetic changes in BAP1 to look out for, especially for rare variants that cause it to malfunction and fuel cancer growth.

Researchers from the Sanger Institute, and their collaborators at The Institute of Cancer Research and the University of Cambridge tested all 18,108 possible DNA changes in the BAP1 gene by artificially altering the genetic code of human cells grown in a dish, in a process known as 'saturation genome editing'. They identified that 5,665 of these changes were harmful and disrupted the protein's protective effects3. Analysis of UK Biobank data confirmed that individuals carrying these harmful BAP1 variants are over ten per cent more likely to be diagnosed with cancer than the general population.

The team also discovered that people with harmful BAP1 variants have elevated levels of IGF-1 in their blood, a hormone linked to both cancer growth and brain development. Even individuals without cancer showed these elevated levels, suggesting that IGF-1 could be a target for new treatments to slow down or prevent certain cancers. Further analysis revealed harmful BAP1 variants and higher IGF-1 levels were linked to worse outcomes in uveal melanoma patients, highlighting the potential for IGF-1 inhibitors in cancer therapy.

Notably, the technique profiles all possible BAP1 variants from diverse populations, not only those prevalent in European clinical records, helping to address the underrepresentation of non-European populations in genetic studies.

ALSO READ: What is anal cancer?

Dr Andrew Waters, first author of the study at the Wellcome Sanger Institute, said: "Previous approaches for studying how variants effect function in genes have been on a very small scale, or exclude important contexts that may contribute to how they behave. Our approach provides a true picture of gene behaviour, enabling larger and more complex studies of genetic variation4. This opens up new possibilities for understanding how these changes drive disease."

Professor Clare Turnbull, clinical lead of the study, Professor of Translational Cancer Genetics at The Institute of Cancer Research, London, and Consultant in Clinical Cancer Genetics at The Royal Marsden NHS Foundation, said, "This research could mean more accurate interpretation of genetic tests, earlier diagnoses and improved outcomes for patients and their families."

Dr David Adams, senior author of the study at the Wellcome Sanger Institute, said, "We want to ensure that life-saving genetic insights are accessible and relevant to all people, regardless of their ancestry. Our aim is to apply this technique to a wider range of genes, potentially covering the entire human genome in the next decade with the Atlas of Variant Effects." (ANI)

Tuesday, July 9, 2024

Comparative Genomics

Comparative Genomics:

Comparative genomics is a field of biological research in which the genomic features of different organisms are compared. These features include DNA sequence, gene structure, regulatory sequences, and other genomic characteristics. By comparing genomes, scientists can gain insights into the evolutionary relationships between organisms, the functions of genes, and the mechanisms of genetic diversity.


Here are some key aspects and applications of comparative genomics:

  1. Evolutionary Insights:

    • Phylogenetic Relationships: By comparing genomes, researchers can infer the evolutionary relationships between species. This helps in constructing phylogenetic trees that depict the evolutionary pathways.
    • Conserved Sequences: Identifying conserved sequences across species helps in understanding which regions of the genome are crucial for survival and have been maintained through evolutionary time.
  2. Functional Genomics:

    • Gene Function: Comparative genomics can help identify the functions of genes. If a gene in one organism is similar to a gene in another, it is likely to perform a similar function.
    • Regulatory Elements: By comparing genomes, researchers can identify regulatory elements such as promoters and enhancers, which control gene expression.
  3. Genomic Variation and Adaptation:

    • Adaptation Mechanisms: Studying genomic differences can reveal how organisms adapt to different environments. For example, comparing the genomes of humans with those of other primates can reveal genetic changes associated with bipedalism or brain development.
    • Pathogen Evolution: Comparative genomics is used to study the evolution of pathogens and their interaction with hosts, which is crucial for understanding disease mechanisms and developing treatments.
  4. Medical Applications:

    • Disease Genes: By comparing the genomes of healthy individuals with those of patients, researchers can identify genes associated with diseases.
    • Model Organisms: Comparative genomics helps in selecting model organisms for studying human diseases. For instance, mice and fruit flies are often used because they have genes similar to those in humans.
  5. Biotechnological Applications:

    • Agriculture: Comparative genomics can improve crop species by identifying genes responsible for desirable traits such as disease resistance or drought tolerance.
    • Synthetic Biology: Understanding the genomes of different organisms allows scientists to engineer new biological systems and organisms.

Comparative genomics leverages various bioinformatics tools and techniques, including sequence alignment, gene prediction, and phylogenetic analysis, to make these comparisons and draw meaningful conclusions.

Comparative Genomics, DNA sequences, evolutionary relationships, conserved genes, genetic variations, phenotypic diversity, gene duplication, horizontal gene transfer, genome sequencing, phylogenetics, bioinformatics tools, next-generation sequencing, evolutionary biology, disease-associated genes, pathogen evolution, crop improvement, large datasets, genome annotation, functional differences, gene synteny, orthologous genes, paralogous genes, genomic islands, metagenomics, genomic evolution, species adaptation, complex traits, molecular biology, genetics, computational biology.

#ComparativeGenomics, #DNASequences, #EvolutionaryRelationships, #ConservedGenes, #GeneticVariations, #PhenotypicDiversity, #GeneDuplication, #HorizontalGeneTransfer, #GenomeSequencing, #Phylogenetics, #BioinformaticsTools, #NextGenSequencing, #EvolutionaryBiology, #DiseaseGenes, #PathogenEvolution, #CropImprovement, #BigData, #GenomeAnnotation, #FunctionalDifferences, #GeneSynteny, #OrthologousGenes, #ParalogousGenes, #GenomicIslands, #Metagenomics, #GenomicEvolution, #SpeciesAdaptation, #ComplexTraits, #MolecularBiology, #Genetics, #ComputationalBiology.



Gene for AutoimmuneThyroid Disease

Scientists uncover novel major risk gene for autoimmune thyroid disease Scientists at deCODE genetics have published a study in Nature Commu...