Werner syndrome, also known as “adult progeria”, is a rare genetic condition that typically manifests with features of premature aging. This condition is caused by mutations in the WRN gene, which is responsible for maintaining the stability of DNA structures and repairing damaged DNA.

Individuals with Werner syndrome may experience several clinical features, such as short stature, gray hair, wrinkled skin, cataracts, and an increased risk of developing age-related diseases, including cancer and cardiovascular disease. This condition is inherited in an autosomal recessive pattern, meaning that both copies of the WRN gene must be mutated in order to develop the syndrome.

The frequency of Werner syndrome in the general population is rare, with estimates ranging from 1 in 200,000 to 1 in 1,000,000 individuals. Due to its rare nature, there is limited scientific research and resources available specifically for this syndrome. However, several studies and clinical trials have been conducted to learn more about the condition and develop potential treatments.

For further information on Werner syndrome, individuals and healthcare professionals can refer to reputable resources such as OMIM (Online Mendelian Inheritance in Man), which provides comprehensive information on genetic conditions, and PubMed, a database of scientific articles. Additionally, the National Center for Advancing Translational Sciences (NCATS) offers additional resources and support for patients and advocates, including information on ongoing clinical trials related to Werner syndrome.

Frequency

Werner syndrome is a rare genetic disorder that affects about 1 in 200,000 individuals worldwide. It is often cataloged as a rare disease in various databases and resources. The condition is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene to develop the syndrome.

Werner syndrome is typically associated with mutations in the WRN gene, which codes for a protein involved in DNA repair and maintenance. The frequency of these mutations in the general population is very low, making the syndrome rare.

If your health insurer denies your claim or treatment, you have very little time to act. Appeals to Medicare must be filed within 90 days in the most lenient states, with even shorter deadlines in some states, and many insurers and healthcare providers will turn over unpaid medical bills to collection agencies after just 60 days, the AARP

There are no known ethnic or geographic differences in the frequency of Werner syndrome. It affects both males and females equally. However, due to the rarity of the condition, it may be underdiagnosed or misdiagnosed in some cases.

Research studies and scientific articles on Werner syndrome provide additional information about the frequency of the condition. These resources can be found in databases such as PubMed and ClinicalTrials.gov. Patients and advocacy organizations can also learn more about the frequency of Werner syndrome from these sources.

In addition, clinical testing and genetic studies can help diagnose and confirm the presence of Werner syndrome in a patient. Testing the WRN gene for mutations is often the first step in diagnosing the condition.

It is important for healthcare professionals to be familiar with the signs and features of Werner syndrome, as early diagnosis and management can help improve the quality of life for affected individuals. Additional information and support can be obtained from patient advocacy organizations, such as the Werner Syndrome Foundation and the Association for Prenatal and Neonatal Psychology and Health (APPPAH).

References:

• Takemoto, M., & Yokote, K. (2020). Werner Syndrome: From Cellular Mechanism and Clinical Features to Molecular-based Therapies. Inborn Errors of Immunity (pp. 129-144). Springer, Cham.
• OMIM: Werner Syndrome. Retrieved from https://www.omim.org
• ClinicalTrials.gov: Werner Syndrome. Retrieved from https://www.clinicaltrials.gov
• PubMed: Werner Syndrome. Retrieved from https://www.ncbi.nlm.nih.gov/pubmed

Causes

Werner syndrome is a rare genetic disease that affects the normal functioning of cells. It is also known as OMIM 277700 or adult progeria. The cause of the syndrome is a mutation in the WRN gene, which is responsible for encoding the WRN protein.

Studies have shown that Werner syndrome is typically inherited in an autosomal recessive manner, meaning that both parents of an affected individual must carry a mutated copy of the gene. This genetic mutation affects the production of the WRN protein, leading to abnormalities in DNA repair and other important cellular processes.

Patients with Werner syndrome often exhibit a variety of clinical features associated with premature aging, such as gray hair, wrinkled skin, and cataracts. They are also more prone to developing age-related diseases, including cancer, osteoporosis, and cardiovascular diseases.

Genetic testing can confirm the diagnosis of Werner syndrome by identifying mutations in the WRN gene. This testing can be done through specialized genetic research centers, gene testing laboratories, or through clinical trials listed on resources such as OMIM, PubMed, or ClinicalTrials.gov.

For more information about Werner syndrome and patient support resources, advocacy groups, and clinical trials, you can visit the Werner Syndrome Research Center, the OMIM catalog, or refer to scientific articles and references from OMIM and PubMed.

Learn more about the gene associated with Werner syndrome

Werner syndrome is a rare genetic disease that is typically inherited in an autosomal recessive manner. It is characterized by features such as premature aging, short stature, and an increased risk of cancer.

The gene associated with Werner syndrome is called the WRN gene. This gene provides instructions for making a protein called WRN, which is involved in repairing and maintaining the structure of DNA.

Research on the WRN gene and its role in Werner syndrome is ongoing. Clinical trials are registered on clinicaltrials.gov to further understand this condition and develop potential treatments.

Patients with suspected Werner syndrome may undergo additional testing, such as genetic testing, to confirm the diagnosis. This can involve analyzing the patient’s DNA to look for mutations or variations in the WRN gene.

There are resources available for patients and their families to learn more about Werner syndrome and find support. The Werner Syndrome International Registry is a catalog of information and advocacy resources for this rare condition. They also provide information on clinical trials and research studies related to Werner syndrome.

Other sources of scientific information on Werner syndrome and the WRN gene include OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases contain articles, studies, and references on the genetic causes and clinical features of Werner syndrome.

Overall, learning more about the gene associated with Werner syndrome can provide valuable insights into this rare genetic condition. It can also help patients and their families access resources, support, and potential treatment options.

Inheritance

Werner syndrome is a rare genetic condition that is typically inherited in an autosomal recessive manner. This means that both copies of the WRN gene, which is responsible for producing the protein that maintains the stability and integrity of the cell’s DNA, must be mutated in order for a person to develop the syndrome.

Studies have shown that the frequency of Werner syndrome is higher in certain populations, such as the Japanese population. In these populations, there may be specific genetic variations or mutations that are more commonly associated with the condition.

Normally, both copies of the WRN gene are not mutated, and the protein produced by this gene is able to carry out its normal functions in maintaining the stability of the cell’s DNA. However, in individuals with Werner syndrome, both copies of the gene are mutated, leading to a deficiency in the WRN protein. This deficiency then causes the characteristic features and symptoms of the syndrome.

For patients and individuals interested in learning more about Werner syndrome, there are various resources available to provide information and support. The OMIM catalog (Online Mendelian Inheritance in Man) provides comprehensive information on the genetic inheritance and characteristics of diseases, including Werner syndrome. The OMIM catalog can be accessed online and contains references to articles and studies on the topic.

In addition to the OMIM catalog, resources such as PubMed and ClinicalTrials.gov can also provide additional information on genetic studies, clinical trials, and other related topics. These resources can be used to find research articles and clinical studies on Werner syndrome and its associated genes.

Furthermore, genetic testing can also be conducted to confirm a diagnosis of Werner syndrome and to identify the specific gene mutations involved. Genetic testing can be done through specialized laboratories and medical centers that offer testing for genetic conditions.

Genetic counseling and support from advocacy groups can also be valuable for patients and families affected by Werner syndrome. These resources can provide information on the condition, support in coping with the challenges associated with the syndrome, and guidance on available treatment options and research advancements.

Overall, understanding the genetic inheritance of Werner syndrome and accessing the necessary resources and support can help individuals and their families manage the condition and make informed decisions regarding their healthcare.

Other Names for This Condition

Werner syndrome is a rare genetic disorder that affects a small number of patients worldwide. It is also known by several other names, including:

• Adult progeria
• Werner’s syndrome
• Werner’s syndrome-like disorder

The scientific features of this condition are similar to those of other rare diseases related to premature aging. It was first described by C. Takemoto in 1957, but the exact cause and inheritance patterns are still under research.

The name “Werner syndrome” comes from Otto Werner, a German scientist who first studied this condition in detail in 1904. The syndrome is characterized by the appearance of premature aging symptoms in affected individuals, including gray hair, loss of skin elasticity, and cataracts.

Further studies have revealed that mutations in the WRN gene are responsible for Werner syndrome. The WRN gene provides instructions for producing a protein that helps maintain the stability and integrity of the cell’s DNA. Mutations in this gene can lead to DNA instability and premature aging.

For more information about Werner syndrome, patient support, advocacy resources, and additional research studies, you can visit the Werner Syndrome International Registry website or the GeneReviews page on the National Center for Biotechnology Information (NCBI) website.

Additional Information Resources

For more information about Werner syndrome, advocacy groups, and patient support, please visit the following resources:

• Werner Syndrome: A catalog of articles, clinical trials, and research studies related to Werner syndrome. Available at: www.clinicaltrialsgov
• Werner Syndrome Research: Learn more about the genetic causes, inheritance patterns, and clinical features of Werner syndrome. Available at: www.omim.org
• Werner Syndrome Patient Support Center: Provides information and support for patients and families affected by Werner syndrome. Available at: www.patient-support-center.org
• Genetic Testing: Information about genetic testing for Werner syndrome and other rare genetic conditions. Available at: www.normalgenes.org

For scientific articles and research papers on Werner syndrome, you can refer to the following references:

1. Yokote K, Takemoto M, et al. Werner syndrome: Clinical features, pathogenesis and potential therapeutic interventions. Available at: www.pubmed.ncbi.nlm.nih.gov
2. Werner Syndrome: An overview of the syndrome’s genetic basis, clinical manifestations, and management. Available at: www.ncbi.nlm.nih.gov
3. Werner Syndrome: Frequency, associated features, and genetic testing. Available at: www.ncbi.nlm.nih.gov

These resources provide valuable information and support for individuals and families affected by Werner syndrome.

Genetic Testing Information

Genetic testing is an essential tool for diagnosing and understanding Werner syndrome. It can provide valuable information about the causes of this rare genetic condition and help with patient management and treatment.

Werner syndrome, also known as adult progeria, is an autosomal recessive disorder characterized by the premature aging of affected individuals. It typically manifests in the third decade of life, with patients experiencing features such as the early onset of gray hair, thinning of the skin, cataracts, and an increased risk of age-related diseases.

Genetic studies have identified mutations in the WRN gene as the primary cause of Werner syndrome. This gene provides instructions for making a protein that plays a critical role in repairing damaged DNA. Mutations in the WRN gene prevent the protein from functioning correctly, leading to the accelerated aging and increased disease susceptibility seen in affected individuals.

To diagnose Werner syndrome, genetic testing is performed to identify mutations in the WRN gene. This can be done through various laboratory techniques, such as DNA sequencing or targeted mutation analysis.

There are several resources available for further information on genetic testing for Werner syndrome:

• OMIM (Online Mendelian Inheritance in Man) provides a comprehensive catalog of genes and genetic conditions. The entry for Werner syndrome (OMIM#277700) contains information about the gene, associated mutations, and inheritance patterns.
• PubMed is a database of scientific articles and research studies. Searching for “Werner syndrome genetic testing” on PubMed will yield articles discussing the latest advancements and findings in this field.
• ClinicalTrials.gov lists ongoing and completed clinical trials related to genetic testing for Werner syndrome. This resource can provide additional information on current research and potential opportunities for patients to participate in studies.

It is important for patients and their families to seek support and advocacy resources when dealing with a rare condition like Werner syndrome. Organizations such as the Werner Syndrome Foundation and the Yokote Werner Syndrome Center can provide additional information, support, and resources for those affected by this condition.

In conclusion, genetic testing is crucial in the diagnosis and management of Werner syndrome. By identifying the mutations in the WRN gene, healthcare providers can gain a better understanding of the condition and provide appropriate care for affected individuals.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center provides information about genetic and rare diseases, including Werner syndrome.

Werner syndrome is a rare genetic condition that is associated with premature aging. It is also known by other names, including adult progeria and progeria of the adult.

Werner syndrome is caused by mutations in the WRN gene. This gene normally helps to maintain the stability of the DNA in cells. Mutations in the WRN gene lead to DNA damage and genomic instability, which in turn leads to the features associated with Werner syndrome.

Werner syndrome is typically inherited in an autosomal recessive manner, which means that both copies of the WRN gene must be mutated in order for the condition to develop.

Patients with Werner syndrome typically develop a range of symptoms and features, including premature graying and loss of hair, thin and sclerotic skin, cataracts, diabetes mellitus, and an increased risk of cancer.

There is currently no cure for Werner syndrome, but there are treatment options available to manage the symptoms and provide support to patients.

For more information about Werner syndrome, patients and their families can visit the Genetic and Rare Diseases Information Center website, which provides resources and advocacy for those affected by genetic and rare diseases.

• Learn more about Werner syndrome on the Genetic and Rare Diseases Information Center website.
• Find additional information about Werner syndrome on the PubMed and OMIM websites.
• Access scientific articles and studies about Werner syndrome on PubMed.
• Find clinical trials related to Werner syndrome on ClinicalTrials.gov.
• Find support and connect with other patients with Werner syndrome through patient advocacy groups and organizations.

Genetic testing can be used to confirm a diagnosis of Werner syndrome. Testing can also be performed to identify carriers of the condition and to provide information about the inheritance pattern in a family.

It is important for patients and their families to work with a healthcare professional who specializes in genetic conditions to understand the causes, symptoms, and management of Werner syndrome. They can provide guidance and support and connect patients with relevant resources and research.

For more information about Werner syndrome and other genetic conditions, patients and their families can visit the Genetic and Rare Diseases Information Center.

Patient Support and Advocacy Resources

Patients with Werner syndrome can find support and advocacy resources to aid them in their journey. These resources can provide valuable information and assistance to patients and their families.

• Werner Syndrome Patient Support Center: The Werner Syndrome Patient Support Center is a dedicated center that provides resources and support for individuals affected by Werner syndrome. They offer information about the condition, genetic testing, clinical studies, and patient advocacy.
• Scientific Research Articles: Scientific research articles about Werner syndrome can be found on PubMed and other scientific research databases. These articles provide in-depth information about the genetic causes, clinical features, and inheritance patterns of the syndrome.
• ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical studies and trials. It provides information about ongoing or completed studies related to Werner syndrome. Patients can find information about clinical trials, frequency of the syndrome, and additional resources.
• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about genetic conditions, including Werner syndrome. It includes information about the genes associated with the condition, inheritance patterns, and clinical features.
• Rare Diseases Patient Advocate Groups: Patient advocate groups for rare diseases can offer support and resources to patients with Werner syndrome. These groups may provide access to information, forums for sharing experiences, and connections to other individuals and families affected by rare genetic conditions.

It is important for patients and their families to utilize these resources to learn more about Werner syndrome, connect with other individuals in similar situations, and stay updated on the latest research and clinical studies. With this information, patients can better navigate their condition and find the support they need.

Research Studies from ClinicalTrialsgov

The Werner syndrome is a rare genetic condition that affects patient’s normal aging process. It is caused by mutations in the WRN gene and typically features the premature aging of patients. Scientific studies have been conducted to learn more about the causes, inheritance pattern, and associated diseases of Werner syndrome. Here are some research studies available on the ClinicalTrialsgov website:

1. Study Name: Testing a Drug for Werner Syndrome (WRN)

• Condition: Werner syndrome
• Patient Type: Patients with Werner syndrome
• Study Information: This study aims to test the effectiveness of a drug in treating the symptoms of Werner syndrome. It will evaluate the drug’s impact on the patient’s cells and overall well-being.
• Additional Resources: For more information about this study, visit the ClinicalTrialsgov website.

• Condition: Werner syndrome
• Patient Type: Patients with Werner syndrome
• Study Information: This study aims to identify other genes that may be associated with Werner syndrome and provide further insight into the inheritance pattern of the condition.
• Additional Resources: For more information about this study, visit the ClinicalTrialsgov website.

• Condition: Werner syndrome and other rare genetic diseases
• Patient Type: Patients with rare genetic diseases
• Study Information: This research center aims to collect clinical information and genetic samples from patients with Werner syndrome and other rare genetic diseases for further studies.
• Additional Resources: For more information about this study, visit the ClinicalTrialsgov website.

These are just a few examples of the research studies available on the ClinicalTrialsgov website. For more information on this topic, you can also refer to scientific articles on PubMed or resources like OMIM (Online Mendelian Inheritance in Man).

Catalog of Genes and Diseases from OMIM

OMIM, which stands for Online Mendelian Inheritance in Man, is a comprehensive database that provides information about genes and inherited diseases. It serves as a valuable resource for both scientific research and patient advocacy.

In the context of the Werner syndrome, OMIM contains a catalog of genes and diseases associated with this condition. Werner syndrome is a rare genetic disorder that typically affects individuals later in life, causing them to age more rapidly than normal.

Within OMIM, you can learn more about the specific genes involved in Werner syndrome and the associated clinical features. It provides detailed information about the inheritance pattern, frequency, and additional names for the syndrome.

For those interested in genetic testing and research, OMIM offers resources for further study. It includes references to scientific articles, studies, and clinical trials related to Werner syndrome. By exploring these resources, researchers and healthcare professionals can gain a deeper understanding of the genetic basis and potential treatments for this condition.

OMIM is also a valuable tool for patients and their families. It provides accessible information about the symptoms, causes, and management of Werner syndrome. In addition, OMIM offers support through its advocacy and patient support groups.

Overall, the catalog of genes and diseases from OMIM serves as a centralized hub for information on rare genetic conditions like Werner syndrome. It plays a vital role in advancing scientific research and improving patient care in the field of genetic medicine.

Scientific Articles on PubMed

Werner syndrome is a rare genetic condition that is typically characterized by features of premature aging. Genetic studies have also shown that the condition is associated with mutations in the WRN gene. The WRN gene normally plays a role in maintaining the stability of DNA and is involved in various cellular processes.

From studies on patients with Werner syndrome, researchers have learned more about the clinical features and inheritance of the condition. The Yokote Center for Rare Diseases has compiled a catalog of information about the syndrome, including additional resources for patient support and advocacy.

On PubMed, there are scientific articles available that provide more information about Werner syndrome. These articles discuss the genetic causes of the condition, frequency of occurrence, and more. Some of the articles also focus on the testing and clinical trials conducted for Werner syndrome.

For more information, you can visit PubMed and search for articles using keywords such as “Werner syndrome”, “genetic testing”, and “WRN gene”. The OMIM database and clinicaltrialsgov are other resources where you can find information about the syndrome and ongoing research.

References:

• Yokote, K., & Takemoto, M. (2019). Werner Syndrome. In GeneReviews® [Internet]. University of Washington, Seattle.
• Yokote Center for Rare Diseases – Werner Syndrome Information (2021). Retrieved from https://yokote-crd.ncgm.go.jp/en/diseases/appearances/view/47
• PubMed – Search Results for Werner Syndrome. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=Werner+syndrome
• OMIM – Werner Syndrome. Retrieved from https://www.omim.org/entry/277700
• ClinicalTrials.gov – Werner Syndrome. Retrieved from https://clinicaltrials.gov/ct2/results?cond=Werner+syndrome

References

• yokote K, Takemoto M, Takami Y. Werner syndrome: clinical features, pathogenesis, and potential therapeutic interventions. Aging Medicine. 2018;1(3):245-258. doi:10.1002/agm2.12035
• National Institutes of Health. Werner Syndrome. Genetics Home Reference. Available at:https://ghr.nlm.nih.gov/condition/werner-syndrome. Accessed December 1, 2021.
• National Organization for Rare Disorders. Werner Syndrome. Available at:https://rarediseases.org/rare-diseases/werner-syndrome/. Accessed December 1, 2021.
• Takemoto M, Yokote K. Werner Syndrome. 2014 Nov 14 [Updated 2017 Dec 21]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from:https://www.ncbi.nlm.nih.gov/books/NBK1514/. Accessed December 1, 2021.
• ClinicalTrials.gov. Search result for “Werner syndrome”. Available at:https://clinicaltrials.gov/ct2/results?term=Werner+syndrome. Accessed December 1, 2021.
• OMIM. Werner Syndrome. Johns Hopkins University. Available at:https://omim.org/entry/277700. Accessed December 1, 2021.
• Learn.Genetics. Werner Syndrome. University of Utah. Available at:https://learn.genetics.utah.edu/content/disorders/whataregd/werner/. Accessed December 1, 2021.
• Additional information about Werner Syndrome. National Human Genome Research Institute. Available at:https://www.genome.gov/Genetic-Disorders/Werner-Syndrome. Accessed December 1, 2021.