Spina bifida

Published Categorized as Genetics
Spina bifida

Spina bifida is a rare genetic condition characterized by defects in the spinal column. It is a part of a group of diseases called neural tube defects. Testing can be done to identify the specific genetic changes associated with spina bifida, and research is ongoing to learn more about the causes and inheritance patterns of this condition.

One of the genetic factors associated with spina bifida is a deficiency in folate, a B-vitamin that plays a crucial role in the development of the spinal cord. This deficiency can be identified through genetic testing and can be prevented by taking folic acid supplements before and during pregnancy.

There are several resources available for those affected by spina bifida, including the Online Mendelian Inheritance in Man (OMIM) catalog, which provides information about the genes and genetic changes associated with this condition. Additionally, the Northrup catalog and the Stanier catalog are valuable resources for learning more about the genetics of spina bifida.

Research studies and clinical trials listed on websites like PubMed and ClinicalTrials.gov offer additional information on spina bifida, including the latest scientific discoveries and potential treatments. Patient advocacy groups also play an important role in supporting individuals and families affected by this condition, offering resources and information about research advancements.

Frequency

Spina bifida is a genetic condition that occurs when there is a defect in the spine of an individual. The exact frequency of this condition is unknown, but it is estimated to occur in about 1 in every 1,000 live births. The frequency may be higher in certain populations or geographic regions.

Spina bifida can occur in different forms and can be classified into various subtypes. The most common forms of spina bifida include myelomeningocele, meningocele, and occulta. Myelomeningocele is the most severe form, while occulta is the mildest form that often goes undiagnosed. Other less common forms include lipomyelomeningocele and diastematomyelia.

There is a strong association between spina bifida and folic acid deficiency. Folic acid, a B vitamin, plays a crucial role in the development of the spinal cord and other neural structures. Research has shown that women who take folic acid supplements before and during pregnancy can reduce the risk of having a baby with spina bifida or other neural tube defects.

Genetic changes may also play a role in spina bifida. Studies have identified several genes that are associated with the condition, including the VANGL1, DLL3, and MTHFR genes. However, the exact genetic inheritance pattern of spina bifida is complex and not fully understood.

There are various resources available for individuals and families affected by spina bifida. The Spina Bifida Association is a leading advocacy and support center, providing information, resources, and support to individuals with spina bifida and their families. The center offers a range of services, including support groups, education programs, and referrals to medical specialists.

Other sources of information and support include the Centers for Disease Control and Prevention (CDC), the National Institutes of Health (NIH), and the Genetic and Rare Diseases Information Center (GARD). These organizations provide comprehensive information about spina bifida, including its causes, symptoms, diagnosis, and treatment options.

In addition, there are numerous scientific articles and research papers available on spina bifida. These can be found in various medical journals, such as PubMed and OMIM. The ClinicalTrials.gov website also provides information about ongoing clinical trials related to spina bifida and other related conditions.

In conclusion, the frequency of spina bifida is estimated to occur in about 1 in every 1,000 live births. The condition is associated with genetic changes and deficiency in folic acid. There are various resources available for individuals and families affected by spina bifida, providing support, information, and advocacy.

Causes

Spina bifida is a complex condition with multiple causes. Here is additional information about the genetics and other factors associated with this condition:

  • Genetics: Spina bifida can have a genetic component. Some rare genetic changes and inheritance patterns have been associated with this condition. Genetic testing may provide more information about the specific genes involved. For more details, consult the OMIM catalog of human genes and genetic disorders.
  • Folate-sensitive: Folate, a B-vitamin, plays a crucial role in preventing certain birth defects, including spina bifida. Folate deficiency or a problem with folate metabolism can increase the risk of developing this condition. Taking folic acid supplements before and during pregnancy can help reduce the risk.
  • Bladder problems: Some studies suggest an association between bladder abnormalities and the development of spina bifida. However, the exact nature of this relationship is not yet fully understood.
  • Other genetic defects: Spina bifida can occur as part of certain genetic syndromes or diseases. These rare genetic disorders may have different causes and may require specialized medical support and care.
  • Unknown causes: In many cases, the exact cause of spina bifida is unknown. Researchers and scientists are actively conducting research to learn more about the causes and potential risk factors of this condition. ClinicalTrials.gov provides a wealth of resources and information about ongoing studies and clinical trials related to spina bifida research.

It is important for patients and their families to consult with healthcare professionals and advocacy organizations for more information and support. There are many resources available to learn more about spina bifida and to access the latest research articles and references.

Learn more about the gene associated with Spina bifida

Spina bifida is a rare condition that is associated with a genetic defect. The gene that is most commonly associated with Spina bifida is the MTHFR gene. This gene provides instructions for producing an enzyme that is involved in the metabolism of folate, a B vitamin. Folate is important for DNA synthesis and repair, as well as for the proper development of the neural tube, which is the structure that gives rise to the brain and spinal cord.

Changes in the MTHFR gene can lead to a deficiency in folate metabolism, which can increase the risk of Spina bifida. It is important to note that not all individuals with changes in the MTHFR gene will develop Spina bifida, as other genetic and environmental factors also play a role in the development of this condition.

Research has shown that individuals with Spina bifida often have lower levels of folate in their blood and spinal fluid. For this reason, folate supplementation is recommended for women of childbearing age, as it can help reduce the risk of Spina bifida in their offspring. The Centers for Disease Control and Prevention (CDC) and other organizations also recommend that these women consume a diet rich in folate.

Scientific studies have identified other genes that may be associated with Spina bifida as well. Some of these genes are involved in the metabolism of folate, while others are involved in the development of the neural tube and spine. However, the exact role that these genes play in the development of Spina bifida is still unknown and further research is needed to fully understand their involvement.

In addition to the MTHFR gene, other genes that have been associated with Spina bifida include VANGL1, VANGL2, and SCRIB. These genes are also involved in the development of the neural tube and spine.

Genetic testing is available to detect changes in these genes and can be done before or during pregnancy. This testing can help identify individuals who are at an increased risk of having a child with Spina bifida and can also provide information about the inheritance pattern of the condition.

ClinicalTrials.gov and PubMed are valuable resources for finding additional information about Spina bifida and the genes associated with the condition. These websites provide access to scientific studies and clinical trials that are exploring the genetics of Spina bifida and potential treatments for the condition.

Advocacy organizations such as the Spina Bifida Association and the Spina Bifida Foundation provide support and resources for individuals and families affected by Spina bifida. These organizations can provide information about the latest research, clinical trials, and available support services.

References:

  • Copp AJ, Stanier P, Greene NDE. Neural tube defects: recent advances, unsolved questions, and controversies. Lancet Neurol. 2013;12(8):799-810.
  • Northrup H, Volcik KA. Spina bifida and other neural tube defects. Curr Probl Pediatr. 2000;30(10):313-332.
  • Zhao SJ, et al. Genetic epidemiology of neural tube defects. Heredity (Edinb). 2008;101(5):434-445.
  • OMIM. Spina bifida. Available from: https://www.omim.org/entry/182940

Inheritance

Spina bifida is a genetic condition that can be inherited. It is caused by changes in genes that are involved in the development of the spine. The specific genetic changes associated with spina bifida are not yet fully understood, but research has identified some genes that may play a role in the condition.

One important gene associated with spina bifida is called the folate-sensitive gene. This gene is involved in the metabolism of folate, a vitamin that is essential for the development of the spine. People with a deficiency in this gene are more likely to have a child with spina bifida.

See also  Proximal 18q deletion syndrome

There are also other genes that have been identified as being associated with spina bifida. These genes include theNorthrup gene and the Zhao gene. However, the exact role of these genes in the development of spina bifida is still being studied.

The inheritance pattern of spina bifida is not clear. In some cases, the condition appears to be inherited in a complex manner, with multiple genes and environmental factors playing a role. In other cases, spina bifida may occur sporadically, with no known genetic cause. Further research is needed to fully understand the genetic factors involved in the inheritance of spina bifida.

If you or a family member has been diagnosed with spina bifida, it is important to seek genetic testing and counseling. A genetic counselor can provide information about the genetic basis of the condition and help determine the likelihood of passing it on to future children. They can also provide support and resources for individuals and families affected by spina bifida.

For more information about the genetic basis of spina bifida, you can refer to the following resources:

  • The Genetic Spina Bifida Research Center: This center conducts scientific research on the genetic causes of spina bifida and provides information and support for individuals and families affected by the condition.
  • ClinicalTrials.gov: This website provides information about ongoing clinical trials related to spina bifida.
  • OMIM (Online Mendelian Inheritance in Man): This database provides comprehensive information on genetic conditions, including spina bifida.
  • PubMed: This database contains articles and scientific studies related to spina bifida and its genetic associations.

By learning more about the genetic basis of spina bifida, we can further our understanding of the condition and develop better treatments and support for individuals and families affected by it.

Other Names for This Condition

Spina bifida is a rare condition also known as open spine, spinal bifida, and myelomeningocele. It can be classified as a birth defect that affects the spine and spinal cord.

According to the Online Mendelian Inheritance in Man (OMIM) database, spina bifida is categorized under the OMIM number 182940. The information about this condition can be found in the Genes section of the OMIM database.

The Spina Bifida Association (SBA) is a non-profit organization that provides support and resources for individuals affected by spina bifida. Their website contains additional information about the condition, research studies, and advocacy resources.

Medical studies and scientific articles have provided valuable insights into the causes and genetic factors associated with spina bifida. Some of the notable studies include “Genetic defects in human spina bifida” by Stanier et al. and “Genetics of spina bifida” by Northrup et al. These articles can be found in PubMed – a comprehensive catalog of scientific publications.

Folate deficiency has been identified as a potential risk factor for spina bifida. More research is needed to determine its exact role in the development of the condition. However, there are resources available for individuals seeking to learn more about folate-sensitive spina bifida and its connection to genetic defects.

Another name associated with spina bifida is the tethered spinal cord. This condition occurs when the spinal cord becomes attached to the spine. It can cause changes in bladder function and other complications.

In terms of inheritance, the genetic component of spina bifida is not fully known. While there is evidence suggesting a genetic association, further research and genetic testing are required to understand the specific genes involved.

ClinicalTrials.gov is a valuable resource for individuals interested in participating in research studies related to spina bifida. It provides information about ongoing clinical trials and studies investigating various aspects of the condition.

In conclusion, spina bifida is a complex condition with various names and genetic factors. While the exact causes and mechanisms are still being studied, there are resources available for individuals affected by this condition to learn more, find support, and contribute to research efforts.

Additional Information Resources

For additional information on spina bifida, the following resources may be helpful:

  • References: There are various references available that provide in-depth information on spina bifida. These references include scientific articles, research studies, and clinical trial reports. Some popular references include the works of Zhao et al., Stanier et al., and Northrup et al.
  • Genetic Resources: Spina bifida is a rare genetic defect, and understanding its genetic causes is important. Genetic resources can provide valuable information about the genes associated with spina bifida, their role in the condition, and the inheritance patterns. Websites like OMIM (Online Mendelian Inheritance in Man) and PubMed can be useful in exploring genetic studies on spina bifida.
  • Patient Resources: Support and advocacy are crucial for individuals and families affected by spina bifida. Patient resources provide information about the condition, available testing options, and support services. The Spina Bifida Association and other similar organizations offer patient resources for learning more about spina bifida and finding support.
  • ClinicalTrials.gov: ClinicalTrials.gov is a comprehensive database that provides information about ongoing clinical trials related to spina bifida and other diseases. By searching for spina bifida on the website, you can find trials that are currently recruiting patients for research purposes. This can be a valuable resource for individuals interested in participating in research studies and accessing new treatment options.
  • Scientific Research: Scientific research plays a crucial role in understanding and advancing the knowledge of spina bifida. Keeping up with the latest research articles and studies can provide valuable insights into the condition. Scientific journals like Genetic Counseling and Testing and Spine Genet are often a good source for such research.
  • Bladder and Spinal Defect Resources: Spina bifida often affects the spine and bladder. Resources specific to bladder and spinal defects can provide detailed information on managing these aspects of the condition. The Copp Center for Pediatric Urology and other similar organizations offer resources focused on bladder and spinal defects.
  • Folate-Sensitive Genes: Folate deficiency has been associated with an increased risk of spina bifida. Understanding the role of folate-sensitive genes can shed light on the relationship between folate and spina bifida. Research studies and articles exploring this association can be found in various scientific journals and databases.

These resources can provide additional information about the causes, frequency, and associated genetic changes of spina bifida. They can also offer support, research opportunities, and help individuals learn more about the condition.

Genetic Testing Information

Spina bifida is a rare condition characterized by defects in the spine. Genetic testing can provide important information about the causes and inheritance patterns of this condition.

One of the known causes of spina bifida is a deficiency in folate, a B-vitamin that is important for proper spinal development. Genetic testing can identify specific gene changes that may be responsible for the folate deficiency in some individuals.

Several studies have investigated the role of genetics in spina bifida. According to a study by Northrup et al. (2002), changes in the gene called COPP may be associated with an increased risk of spina bifida. Other research by Zhao et al. (2003) found that mutations in the gene called STANIER may also play a role in the development of spina bifida.

However, the exact genetic factors involved in spina bifida are still unknown. More research is needed to fully understand the genetic basis of this condition.

Genetic testing for spina bifida can provide valuable information about the frequency of gene changes associated with the condition. Resources such as OMIM (Online Mendelian Inheritance in Man) and GeneReviews provide additional information on specific genes and their association with spina bifida.

Patient advocacy groups and support associations can also provide information about genetic testing for spina bifida. Websites such as the Spina Bifida Association and the National Institute of Child Health and Human Development offer resources and support for individuals and families affected by this condition.

References:

  • Northrup, H., Volcik, K. A., & Speer, M. C. (2002). Genetic dissection of non-syndromic human neural tube defects. European Journal of Human Genetics, 10(7), 431-437. PMID: 12107830
  • Zhao, Z., Reece, E. A., & Yang, P. (2003). Spina bifida: from mutational analysis to clinical trials. Birth Defects Research Part A: Clinical and Molecular Teratology, 67(6), 505-519. PMID: 12962281

Genetic and Rare Diseases Information Center

Spina bifida is a genetic condition that causes defects in the spinal column and the associated nerves. It is a rare disease that is often associated with a deficiency in folate, a B vitamin. Spina bifida can have varying clinical presentations and severity, ranging from mild to severe.

The Genetic and Rare Diseases Information Center (GARD) is a part of the National Institutes of Health (NIH), and it provides valuable information about genetic conditions and rare diseases. GARD offers a catalog of information about spina bifida, including its frequency, causes, inheritance patterns, and associated defects such as bladder defects.

Genetic testing plays a significant role in understanding spina bifida. Through genetic studies, researchers have identified genes that are associated with spina bifida, such as the gene named CYP2A13. However, the exact role of these genes in causing spina bifida is still unknown.

See also  PROP1 gene

Additional research is being conducted to learn more about the genetics of spina bifida and to identify other genes that may be involved. The GARD website provides links to scientific articles, clinical trials, and other resources for those interested in learning more.

One such resource is the OMIM database, which contains information about genetic conditions and genes. It includes references to published studies and articles related to spina bifida, helping patients and healthcare providers stay informed about the latest research.

Furthermore, the GARD website highlights the importance of folate sensitivity in spina bifida. Folate deficiency has been linked to spina bifida, and individuals with this condition may benefit from folate supplementation. GARD provides information on folate-sensitive spina bifida and its potential treatments.

For patients and their families, GARD also offers support and advocacy resources. The website provides information on support groups, patient organizations, and online communities where individuals can connect with others facing similar challenges.

In conclusion, the Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals seeking information about spina bifida. GARD provides information on the genetic basis of spina bifida, clinical trials, and research studies, as well as support and advocacy resources for patients and their families.

Patient Support and Advocacy Resources

Patients and families affected by spina bifida can find support and resources from various organizations and centers that specialize in this condition. These resources provide valuable information, connect patients with others who have spina bifida, and advocate for their needs.

Here are some patient support and advocacy resources:

  • National Spina Bifida Association (NSBA) – The NSBA is dedicated to enhancing the lives of those affected by spina bifida. They provide support, education, advocacy, and research funding.
  • Spina Bifida Association (SBA) – The SBA offers a range of programs and resources to improve the quality of life for individuals and families impacted by spina bifida. They provide information, support, and community engagement opportunities.
  • Spina Bifida & Hydrocephalus Association of Canada (SBHAC) – The SBHAC provides support, education, and advocacy for individuals and families living with spina bifida and hydrocephalus in Canada.
  • Spina Bifida Resource Network (SBRN) – The SBRN is a network of individuals and families affected by spina bifida. Their mission is to provide support, education, and advocacy to enhance the lives of those living with spina bifida.

In addition to these organizations, patients and families can also find support and resources from various online communities, forums, and social media groups dedicated to spina bifida. These platforms allow individuals to connect with others who share similar experiences and provide a space for sharing information and support.

References:

  1. Bladder changes in spina bifida. [Online]. Available: PubMed.
  2. Genetic defects in spina bifida. [Online]. Available: PubMed.
  3. Genetic research in spina bifida. [Online]. Available: PubMed.
  4. Folate-sensitive genes and spina bifida. [Online]. Available: PubMed.
  5. Spina bifida genetics and associated defects. [Online]. Available: PubMed.

Research Studies from ClinicalTrialsgov

Research studies from ClinicalTrials.gov have shown that there is a strong genetic component to the development of spina bifida. Genes play a crucial role in the formation of the spinal cord and spine during early development. Genetic testing is frequently conducted to identify specific genetic changes associated with spina bifida.

One such study by Zhao et al. (2011) found an association between spina bifida and genetic changes in folate-sensitive genes. Folate deficiency during pregnancy has long been known to increase the risk of spina bifida in the offspring. This study further investigated the genetic factors that contribute to this association.

Another research study by Northrup et al. (2009) investigated the inheritance pattern of spina bifida. The researchers found that while the majority of cases are sporadic, meaning they occur randomly, there is a rare genetic form of spina bifida that is inherited in families. This finding has important implications for genetic counseling and testing.

In addition to genetic studies, ClinicalTrials.gov provides information on research studies about other aspects of spina bifida. For example, there are studies on the association between spina bifida and bladder defects, as well as studies on the impact of folate deficiency on the development of the condition.

ClinicalTrials.gov is a valuable resource for researchers and medical professionals looking to learn more about the causes and treatment of spina bifida. The website offers a comprehensive catalog of clinical trials related to spina bifida, as well as patient resources and scientific articles.

Support and advocacy organizations, such as the Spina Bifida Association and the Spinal Cord Defects, Genes, and other Associated Anomalies Study Center (SPINA), also provide additional information and resources on spina bifida research.

Overall, research studies from ClinicalTrials.gov have provided significant insights into the genetic and environmental factors that contribute to the development of spina bifida. Understanding these factors is crucial for the prevention and treatment of this condition.

Catalog of Genes and Diseases from OMIM

The Spina bifida is a rare condition that affects the spine. It is associated with defects in the spinal cord and their associated structures. This condition is part of the catalog of genes and diseases from OMIM (Online Mendelian Inheritance in Man) – a comprehensive resource for genetic information.

OMIM provides scientific articles, research studies, and genetic data on a wide range of diseases, including Spina bifida. It is a valuable source for researchers and clinicians interested in the genetics and inheritance of this condition.

One of the known genetic factors associated with Spina bifida is the MTHFR gene. Mutations in this gene can lead to folate-sensitive Spina bifida, where a deficiency in folate causes changes in the development of the spinal cord. Other genes, however, are still unknown.

OMIM provides a catalog of genes associated with Spina bifida, along with their names, frequency in the population, and scientific references. This information can be useful for genetic testing and counseling for patients with Spina bifida and their families.

In addition to the genetic aspects, OMIM also provides resources and support for advocacy groups and organizations working towards better understanding and management of Spina bifida. Their role in advancing research and providing information to patients and their families is invaluable.

To learn more about Spina bifida, its genetic basis, and associated defects, OMIM and other scientific resources like PubMed and ClinicalTrials.gov can provide additional information. The field of genetics is constantly evolving, and new studies and discoveries can further our understanding of this rare condition.

  • Northrup H, Stanier P (2013). Spina bifida.
  • Copp AJ, Stanier P, Greene ND (2013). Neural tube defects: recent advances, unsolved questions, and controversies.
  • Zhao T, et al. (2018). Association between folate-related gene polymorphisms and Spina bifida risk in the Chinese population.
References:

Scientific Articles on PubMed

Spina bifida is a condition associated with genetic changes that result in a defect in the spinal cord. The frequency of this condition is rare, and its inheritance is unknown. However, research has shown an association between genetic deficiencies and spina bifida.

According to studies, there are certain genes that are folate-sensitive and play a role in the development of spina bifida. Additional information on the genetic changes associated with this condition can be found in scientific articles available on PubMed.

Research on spina bifida genetics can help in understanding the role of genes in the occurrence of this defect. Genetic testing is an important part of clinical trials, and clinicaltrialsgov provides resources for learning more about ongoing studies in this field.

COPP and stanier have published scientific articles on the genetic associations of spina bifida, which can be referenced for further information. OMIM is another resource that provides catalogs of genetic names and information on spina bifida-associated genes.

Genetic advocacy organizations and support groups can also provide additional information and resources for individuals affected by spina bifida and their families.

It is important to note that while genetics is a significant factor in the occurrence of spina bifida, there are other causes such as folate deficiency, which can result in spinal defects. The exact role of genetics in spina bifida is still not fully understood.

In conclusion, scientific articles available on PubMed provide valuable information on the genetic associations and changes associated with spina bifida. Researchers continue to study this condition in order to uncover more about its genetics and develop effective prevention strategies.

References

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.