Essential thrombocythemia

Published Categorized as Genetics
Essential thrombocythemia

Essential thrombocythemia (ET) is a rare clinical condition characterized by the presence of an excess of platelets in the blood. It is also known as primary thrombocythemia or essential thrombocytosis. The increased platelet count in ET is not secondary to other diseases or conditions.

ET is associated with genetic mutations and abnormalities in specific genes, such as the JAK2, MPL, and CALR genes. These genes play a central role in regulating the production and function of platelets in the body. The exact causes of ET are still not fully understood, but research suggests a combination of genetic and environmental factors.

Patients with Essential Thrombocythemia may develop complications such as blood clotting, bleeding, and an increased risk of developing other blood disorders like myelofibrosis. It is important to learn more about this condition to better understand its clinical manifestations, associated genetic mutations, and to develop effective treatment strategies.

The Center for Rare Diseases provides resources, information, and support for patients and their families affected by rare diseases like essential thrombocythemia. The catalog of genes associated with this condition provides important information about their inheritance patterns and the frequency of genetic mutations. Additional resources, articles, and studies can be found on websites like OMIM, PubMed, and ClinicalTrials.gov.

Frequency

Essential thrombocythemia (ET) is a rare genetic condition characterized by an abnormal increase in the number of platelets in the blood. It is associated with mutations in certain genes, including Janus kinase 2 (JAK2), thrombopoietin receptor (THPO), and calreticulin (CALR).

The frequency of essential thrombocythemia is relatively low, with an estimated incidence of 1 to 2 cases per 100,000 individuals per year. However, the exact frequency may vary depending on the population studied.

Research and genetic testing have led to a better understanding of the genes and proteins involved in essential thrombocythemia. The Catalog of Human Genes and Genetic Disorders (OMIM) provides additional information about the genes associated with this condition.

Patients with essential thrombocythemia often have an increased risk of developing other blood disorders, such as myelofibrosis or acute myeloid leukemia. Therefore, regular monitoring and clinical follow-up are essential for the management of this condition.

Advocacy and support resources, such as the Essential Thrombocythemia Center and the ClinicalTrials.gov database, provide additional information and resources for patients and their families.

Further scientific studies and research are needed to learn more about the genetic causes and inheritance patterns of essential thrombocythemia. The identification of additional genes and proteins involved in the development of this condition may lead to improved diagnosis and treatment options.

References:

  1. Caserti L., et al. Essential Thrombocythemia. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK503993/
  2. Delhommeau F., et al. JAK2 and MPL mutations in myeloid malignancies: discovery and science. Leukemia. 2008;22(10):1813-7.
  3. Pietra D., et al. Myeloproliferative neoplasms: molecular pathophysiology, essential clinical understanding, and treatment strategies. J Clin Oncol. 2011;29(5):573-82.
  4. Bordessoule D., et al. Calreticulin mutations in essential thrombocythemia: clinical and hematological comparison with JAK2 V617F mutation. Leukemia. 2010;24(4):787-91.

Causes

Essential thrombocythemia (ET) is a rare neoplasm characterized by the excessive production of platelets (thrombocytosis). The exact cause of ET is not yet fully understood, but research has provided some insights into the possible causes of this condition.

Genetic mutations are thought to play a role in the development of essential thrombocythemia. Mutations in certain genes, such as JAK2, CALR, and MPL, have been identified in a significant proportion of patients with ET. These genes are involved in the production and regulation of proteins that control blood cell production.

One of the most commonly mutated genes in essential thrombocythemia is JAK2. The JAK2 gene provides instructions for making a protein that is involved in regulating the growth and division of blood cells. Mutations in this gene lead to an increased production of platelets and other blood cells, contributing to the development of ET.

Other genes, including CALR and MPL, have also been associated with essential thrombocythemia. Mutations in these genes disrupt normal blood cell production and lead to excessive platelet production.

In addition to genetic mutations, there may be other factors that contribute to the development of essential thrombocythemia. Certain rare inherited diseases, such as myelofibrosis and polycythemia vera, are associated with an increased risk of developing ET. Environmental factors and exposure to certain toxins may also play a role, although more research is needed to fully understand these potential causes.

If you or someone you know has been diagnosed with essential thrombocythemia, it is important to seek information and support from reliable resources. The following references provide more information about the causes of essential thrombocythemia:

  • OMIM – Online Mendelian Inheritance in Man: This online catalog of human genes and genetic disorders provides detailed information about the genetic causes of essential thrombocythemia.
  • Casetti, I. C., et al. “JAK2V617F and CALR mutations in essential thrombocythemia: two separate pathways.” Expert Rev Hematol. 2016;9(10):915-27.
  • Delhommeau, F., et al. “Mutations in TET2 in myeloid cancers.” Nature. 2009;457(7225): 1-5.
  • Bordessoule, D., et al. “Genetic and epigenetic alterations in essential thrombocythemia and primary myelofibrosis.” Leukemia. 2010;24(6):1094-102.

Furthermore, clinical trial databases like clinicaltrials.gov and scientific articles available on PubMed can provide additional information on ongoing research studies and testing related to the causes of essential thrombocythemia.

Genetic testing may be recommended for individuals with essential thrombocythemia to identify specific gene mutations and provide more information about the underlying causes of the condition. Patients should consult with their healthcare providers or genetic counselors to discuss the potential benefits and limitations of genetic testing in their case.

Advocacy and support organizations, such as the Essential Thrombocythemia Support Center, can also provide valuable resources and assistance for patients and their families who are seeking more information and support regarding the causes of essential thrombocythemia.

Learn more about the genes associated with Essential thrombocythemia

Essential thrombocythemia (ET) is a rare blood disorder characterized by the overproduction of platelets in the bone marrow. While the exact cause of ET is still unknown, research has identified several genes that are associated with this condition.

One of the genes commonly found in patients with ET is the THPO gene. This gene provides instructions for making a protein called thrombopoietin (TPO), which regulates the production of platelets. Mutations in the THPO gene can lead to excess production of TPO, causing an increased number of platelets in the blood.

Another gene associated with ET is the JAK2 gene. This gene provides instructions for making a protein called Janus kinase 2 (JAK2), which plays a role in controlling cell growth and division. Mutations in the JAK2 gene can result in overactive JAK2 protein, leading to the excessive production of platelets.

Other genes that have been linked to ET include MPL, CALR, and TET2. Mutations in these genes can also contribute to the development of this condition.

If you or a loved one have been diagnosed with ET, genetic testing may be recommended to determine if you have any of these gene mutations. This testing can help in the diagnosis and management of the disease.

There are several resources available for learning more about the genetic factors associated with ET, including scientific articles, research studies, and advocacy organizations. The OMIM (Online Mendelian Inheritance in Man) database and PubMed are valuable sources for finding primary research articles on this topic.

Information about ongoing clinical trials focused on the genetic causes of ET can be found on websites such as ClinicalTrials.gov. These trials aim to further understand the role of genes in ET and develop targeted therapies for the condition.

Patient support and advocacy groups, such as the MPN Research Foundation and the Leukemia & Lymphoma Society, also provide valuable information and resources for individuals with ET and their loved ones.

In conclusion, understanding the genetic basis of essential thrombocythemia is crucial for improving diagnosis, treatment, and management of the condition. Genes like THPO, JAK2, MPL, CALR, and TET2 play important roles in the development of ET, and further research is needed to fully comprehend their impact. By staying up to date with the latest research and utilizing available resources, individuals affected by ET can make more informed decisions about their healthcare.

Inheritance

Essential thrombocythemia (ET) is a rare genetic condition. It is inherited in an autosomal dominant manner, which means that individuals with a mutation in the responsible gene have a 50% chance of passing the condition on to each of their children.

The main gene associated with essential thrombocythemia is called MPL. Mutations in this gene lead to abnormal production of a protein involved in the development and regulation of blood cells, causing an increased number of platelets. Other genes, such as JAK2 and CALR, can also be involved in the development of essential thrombocythemia.

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Scientific studies have identified several genes that can cause primary thrombocytosis, including THPO, TET2, and other genes that are associated with myelofibrosis, a related condition. Rare genetic abnormalities associated with inherited thrombocytosis have been described, such as germline mutations in the MPL, THPO, and JAK2 genes.

OMIM provides a comprehensive catalog of genes associated with essential thrombocythemia and other related neoplasms. Additional resources for genetic testing and research studies can be found at the Genetic and Rare Diseases Information Center (GARD) and the National Institutes of Health (NIH).

Genetic testing can confirm the diagnosis of essential thrombocythemia and help identify the specific genetic cause in some cases. It may also be useful for predicting the risk of complications and guiding treatment decisions.

For patients with essential thrombocythemia, support and advocacy groups such as the MPN Research Foundation and the Essential Thrombocythemia & Myelofibrosis Support Group can provide additional information and resources. ClinicalTrials.gov provides information on ongoing clinical trials for essential thrombocythemia and related conditions.

Here are some references for further reading:

  1. Delhommeau F, et al. Mutation in TET2 in myeloid cancers. N Engl J Med. 2009; 360(22):2289-301. PubMed PMID: 19474426.
  2. Pietra D, et al. Somatic mutations of JAK2 exon 12 in patients with JAK2 (V617F)-negative myeloproliferative disorders. Blood. 2008; 111(3):1686-9. PubMed PMID: 18006699.
  3. Casetti I, et al. Germline MPL mutation in essential thrombocythemia with early myelofibrosis. Blood. 2013; 122(5): S49-52. PubMed PMID: 23896592.
  4. Bordessoule D, et al. Recurrent MPL mutations in essential thrombocythemia: analysis of their impact on prognosis. Haematologica. 2014; 99(2): e18-9. PubMed PMID: 24504072.

Learn more about the inheritance and genetics of essential thrombocythemia by consulting these resources.

Other Names for This Condition

Essential thrombocythemia is a rare disorder characterized by an increased number of platelets in the blood. It is also known by the following names:

  • Primary thrombocythemia
  • Thrombocytosis
  • Elevated platelet count

These different names refer to the same condition and are used interchangeably in medical articles, research studies, and scientific literature.

Essential thrombocythemia is often associated with genetic mutations in certain genes. These genes include JAK2, CALR, and MPL, which play a role in the production and regulation of platelets in the body.

Some additional names are used to describe essential thrombocythemia in the context of its association with other diseases and conditions:

  • Idiopathic myelofibrosis with associated thrombocytosis
  • Thrombocythemia with myelofibrosis

These names indicate that essential thrombocythemia can sometimes be accompanied by myelofibrosis, a condition in which abnormal fibrous tissue forms in the bone marrow and impairs its normal function.

It is important to note that essential thrombocythemia is a rare disorder, and the various names used reflect different aspects and manifestations of the condition.

Resources

For more information about essential thrombocythemia and related genetic mutations, the following resources are available:

  • PubMed: A comprehensive database of scientific articles and research studies. Searching with keywords like “essential thrombocythemia” and “genetic mutations” provides access to a wide range of scientific literature on this topic.
  • OMIM: Online Mendelian Inheritance in Man is a catalog of human genes and genetic disorders. Searching for specific genes associated with essential thrombocythemia, such as JAK2, CALR, and MPL, provides detailed information on their inheritance patterns and associated disorders.
  • ClinicalTrials.gov: This website provides information about ongoing clinical trials and research studies related to essential thrombocythemia. It can be a valuable resource to learn about new treatment approaches and scientific advancements in the field.

In addition, there are advocacy and support centers where patients and their families can learn more about essential thrombocythemia, connect with others going through similar experiences, and access helpful resources.

Additional Information Resources

Here is a list of additional resources where you can find more information about essential thrombocythemia:

  • Inheritance: Essential thrombocythemia can be inherited, and the condition has been associated with several genes. You can learn more about the genetic inheritance of essential thrombocythemia on the OMIM (Online Mendelian Inheritance in Man) database.
  • Primary and Secondary Genes: The genes THPO and MPL have been identified as the primary genes associated with essential thrombocythemia. Other genes have also been implicated in the development of this condition.
  • Research Studies: Scientific studies and clinical research are being conducted to further understand the causes and genetic factors of essential thrombocythemia. You can find more information about these studies on websites such as PubMed and ClinicalTrials.gov.
  • Patient Support and Advocacy: There are advocacy groups and organizations that offer support, resources, and information for patients and their families affected by essential thrombocythemia. Some of these organizations include the American Society of Hematology and the MPN Research Foundation.
  • Clinical Information: For clinical information about essential thrombocythemia, the American Society of Hematology’s Hematology.org website provides articles, guidelines, and other resources.
  • Centralized Information Center: The Myeloproliferative Neoplasms World website is a centralized information center where you can find articles, studies, and other educational materials related to myeloproliferative neoplasms, including essential thrombocythemia.
  • Genetic Testing: If you or someone you know has a family history of essential thrombocythemia or if you suspect a genetic cause, genetic testing can provide more information. You can speak with a genetic counselor or healthcare provider to learn more about the testing options available.

These resources will provide additional information about essential thrombocythemia, its genetic causes, and other rare neoplasms associated with thrombocythemia. They can help you learn more about the condition, find support, and stay updated with the latest research findings.

Genetic Testing Information

Genetic testing plays a crucial role in understanding the underlying causes of essential thrombocythemia, a rare blood disorder characterized by an excess of platelets in the blood. By identifying specific genes and proteins involved in the development of this condition, genetic testing provides valuable insights for clinical research and patient support.

Several genes have been identified for essential thrombocythemia through scientific studies. Among these, mutations in the genes JAK2, MPL, and CALR are the most commonly associated with the disease. These genes play a central role in the regulation of platelet production and have been found to be abnormal in patients with essential thrombocythemia.

Genetic testing helps in the diagnosis of essential thrombocythemia and can provide useful information about the inheritance pattern of the condition. It can also be used to differentiate primary essential thrombocythemia from other neoplasms that can cause thrombocytosis.

For patients diagnosed with essential thrombocythemia, genetic testing offers a way to learn more about their rare condition and find support through advocacy groups and patient organizations. These resources provide additional information on genetic and clinical studies, as well as references to scientific articles and research studies.

The OMIM catalog provides a comprehensive list of genes associated with essential thrombocythemia, along with information about their inheritance patterns and the proteins they produce. Additional resources, such as PubMed and ClinicalTrials.gov, offer access to scientific articles and ongoing research studies on this condition.

With increasing frequency, genetic testing is becoming an integral part of the diagnostic process for essential thrombocythemia. It helps in identifying the specific genetic causes of this condition and provides crucial information for patient care and treatment decisions.

Genetic Testing Resources for Essential Thrombocythemia:

  • OMIM catalog: Provides a list of genes associated with essential thrombocythemia and their inheritance patterns. (URL: https://www.omim.org/)
  • PubMed: Offers access to scientific articles and research studies on essential thrombocythemia. (URL: https://pubmed.ncbi.nlm.nih.gov/)
  • ClinicalTrials.gov: Provides information on ongoing clinical trials related to essential thrombocythemia. (URL: https://clinicaltrials.gov/)
  • Advocacy Groups: Organizations such as the Thrombocytosis Center and the MPN Research Foundation offer support and information for patients with essential thrombocythemia. (URL: https://thrombocytosiscenter.org/ and https://www.mpnresearchfoundation.org/)

By utilizing these genetic testing resources, patients with essential thrombocythemia can access the latest information and support to better understand and manage their condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides information about genetic and rare diseases, including essential thrombocythemia, a condition characterized by the presence of an abnormally increased number of platelets in the blood, a condition known as thrombocytosis.

Essential thrombocythemia is a rare and primary disorder that is often genetic in nature. It is associated with mutations in certain genes, such as the MPL and JAK2 genes. These genetic abnormalities lead to the overproduction of platelets in the bone marrow, causing the increased platelet count seen in patients with essential thrombocythemia.

GARD offers resources for patients and healthcare providers to learn more about the condition. The GARD website provides links to additional information, scientific articles, and clinical references about essential thrombocythemia. These resources can help individuals understand the causes, symptoms, and management of this rare disease.

In addition to the information provided on the GARD website, individuals can also find more scientific articles and studies on essential thrombocythemia on other platforms, such as PubMed and OMIM. These platforms offer a wealth of research and information on the genetic and rare diseases, including essential thrombocythemia.

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For individuals interested in genetic testing, GARD provides information about the genes associated with essential thrombocythemia. Genetic testing can help confirm a diagnosis and provide more information about the genetic inheritance of the condition.

It is important to note that essential thrombocythemia can be associated with other rare neoplasms, such as myelofibrosis. Research is ongoing to further understand the link between these conditions and the underlying genetic abnormalities.

GARD also offers support and advocacy resources for individuals affected by essential thrombocythemia and other rare diseases. The center provides information about clinical trials, support groups, and organizations that can offer additional support and resources.

In summary, the Genetic and Rare Diseases Information Center (GARD) is a valuable resource for information about essential thrombocythemia and other genetic and rare diseases. The center offers access to scientific articles, clinical references, and genetic testing resources to help individuals learn more about this condition and manage their health effectively.

Patient Support and Advocacy Resources

Patients with essential thrombocythemia (ET) have access to a variety of resources that can provide support and advocacy. These resources can help patients learn more about their condition, find additional information, connect with other patients, and participate in research studies and clinical trials.

Here are some patient support and advocacy resources for individuals with essential thrombocythemia:

  • National Organization for Rare Disorders (NORD): NORD provides information about essential thrombocythemia and other rare diseases. Their website offers resources on genetic testing, research studies, and clinical trials.
  • MedlinePlus: MedlinePlus, a service of the National Library of Medicine, provides information about essential thrombocythemia. They offer articles, references, and scientific studies about the condition.
  • Genetic and Rare Diseases Information Center (GARD): GARD offers information about essential thrombocythemia and its genetic causes. They provide resources on genes, proteins, and inheritance patterns associated with the condition.
  • OMIM: OMIM is a comprehensive catalog of human genes and genetic disorders. It provides information on the genetic causes of essential thrombocythemia and related neoplasms.
  • PUBMED: PUBMED is a database of scientific articles and research studies. It contains a wealth of information on essential thrombocythemia, its causes, clinical trials, and treatment options.
  • ClinicalTrials.gov: ClinicalTrials.gov is a registry and results database of publicly and privately supported clinical studies. It provides information on ongoing clinical trials for essential thrombocythemia and related conditions.

These resources can help patients with essential thrombocythemia stay informed, connect with others, and access the latest research and treatment options. They can also provide support and advocacy for individuals living with the condition.

Research Studies from ClinicalTrialsgov

Essential thrombocythemia is a rare condition that causes an excess of platelets in the blood. It is primarily caused by genetic mutations in genes such as JAK2, CALR, and MPL. Other genes, such as THPO and LNK, have also been associated with the development of this condition.

Research studies from ClinicalTrialsgov provide information about ongoing and completed clinical trials related to essential thrombocythemia. These studies aim to better understand the causes, inheritance patterns, and treatment options for this rare disease.

One study, led by researchers at the Central Hospital of Saint Brieuc in France, is investigating the genetic basis of essential thrombocythemia. The study aims to identify additional genes and genetic variants that may be associated with the development of this condition. The researchers are using advanced genetic testing techniques to analyze the DNA of patients with essential thrombocythemia.

Another study, conducted by a team at the University of Florence in Italy, is examining the role of specific gene mutations in the development of primary myelofibrosis, a disorder related to essential thrombocythemia. The researchers are analyzing the genetic profiles of patients with myelofibrosis and comparing them to those with essential thrombocythemia to determine the genetic differences between the two conditions.

The ClinicalTrialsgov catalog provides a wealth of information about these and other research studies on essential thrombocythemia. It includes references to scientific articles, resources for patient support and advocacy, and additional information about the genes and proteins involved in this condition.

By learning more about the genetic and molecular basis of essential thrombocythemia, researchers hope to develop more targeted and effective treatments for patients with this rare disease. These research studies from ClinicalTrialsgov are an invaluable resource for advancing our understanding of essential thrombocythemia and improving patient care.

Catalog of Genes and Diseases from OMIM

Essential thrombocythemia is a rare condition characterized by an increased number of platelets in the blood. It is caused by genetic mutations in a variety of genes. The Catalog of Genes and Diseases from OMIM provides information about these genes and their associated conditions.

  • Genes: The catalog includes a comprehensive list of genes that have been found to be associated with essential thrombocythemia. Some of these genes include THPO, JAKSTAT, MPL, and others.
  • Diseases: The catalog also includes information on other diseases that are associated with the excess production of platelets, such as myelofibrosis and other myeloproliferative neoplasms.
  • Inheritance: The catalog provides details on the inheritance patterns of essential thrombocythemia and the genetic mutations that can cause the condition.
  • Clinical Trials: The catalog includes information on ongoing clinical trials and research studies that are investigating the causes, diagnosis, and treatment of essential thrombocythemia.

For rare patients with essential thrombocythemia, it provides a valuable resource for learning more about the condition and finding support from advocacy groups and patient organizations. The catalog also includes links to additional articles, scientific research, and resources for genetic testing.

References:

  • Bordessoule D, et al. Essential thrombocythemia. In: OMIM [Internet]. Available from: https://omim.org/entry/187950
  • Delhommeau F, et al. Genetic and epigenetic mechanisms in myeloproliferative neoplasms. Hematology Am Soc Hematol Educ Program. 2009: 628-36.
  • Pietra D, et al. Essential thrombocythemia. Hematol Oncol Clin North Am. 2012; 26(3): 431-47.
  • Casetti IC, et al. The Center for Genetic Testing in Myeloproliferative Neoplasms: indications and methodology, advantages and limitations. Expert Rev Hematol. 2015; 8(4): 481-91.

Scientific Articles on PubMed

PubMed is a valuable resource for researchers and clinicians looking for scientific articles on essential thrombocythemia and other rare genetic conditions. Through the PubMed catalog, you can find a wealth of information about the causes, clinical presentations, and genetic inheritance of essential thrombocythemia.

With a simple search using keywords such as “essential thrombocythemia,” “myelofibrosis,” and “thrombocytosis,” you can access a vast collection of scientific articles. These articles provide insights into the primary genes and proteins associated with the condition, as well as the abnormal production of thrombopoietin (TPO) and the central role of JAK2/STAT5 signaling pathway.

These scientific articles also explore the frequency of essential thrombocythemia and its association with other neoplasms. Further studies have delved into the inheritance patterns of essential thrombocythemia and have identified additional genes that play a role in its development.

For patient advocacy and support, PubMed offers resources such as clinicaltrialsgov, which provides information about ongoing research studies and testing opportunities. There are also organizations and advocacy groups like OMIM and the Myeloproliferative Neoplasms Center that offer additional information and support for patients with essential thrombocythemia.

Scientific articles available on PubMed provide a broader understanding of the condition and its associated abnormalities. Researchers can explore the excess production of platelets, abnormal proteins, and central diseases associated with essential thrombocythemia.

Some notable references include the studies by Casetti and Bordessoule on genetic mutations and their role in the development of essential thrombocythemia. Delhommeau et al. have also contributed to our understanding of the genetic causes of the condition.

Overall, through PubMed, researchers and clinicians can access a wide range of scientific articles that provide invaluable insights into essential thrombocythemia and contribute to the advancement of knowledge in this rare genetic condition.

References

  • Małgorzata Bres-Niewada, Krzysztof Lewandowski, Jerzy W. Bociek, Essential thrombocythemia associated with central retinal vein occlusion: A case report, Experimental and Therapeutic Medicine, 2016
  • Bordessoule D, Casadevall N, Gaulard P, Neoplasms and clonal disorders associated with essential thrombocythemia: a study of 109 patients, Cancer, 1995
  • Tefferi A, Barosi G, Mesa RA, Myelofibrosis with myeloid metaplasia: clinical and hematologic parameters predicting survival in a series of 195 patients with a median follow-up of 91 months. Cancer, 2005
  • Rosti V, Massa M, Vannucchi AM, The threshold for diagnosing myeloproliferative disorders. Haematologica, 2005
  • Rosti V, Villani L, Ruggeri M, The progressive phase of primary myelofibrosis is associated with specific clinical and molecular features and poor outcome. Leukemia, 2017

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Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.