 |
|
Genetic breakthrough offers promise in tackling kidney tumors
January 11, 2008New study on Easter Island chemical
A new study has shown promising results in fighting a severe genetic disorder which can create tumours throughout the body.
Advances in genetic knowledge have transformed our understanding of disease in recent years. We now know which genes are linked to a wide variety of conditions. However, so far, very few cures and treatments have developed as a result of this knowledge.
Now a UK study led by researchers at Cardiff University suggests that a chemical first found on Easter Island could treat the genetic disorder tuberous sclerosis.
Tuberous sclerosis is an inherited disease affecting children and adults which causes tumours to grow in many of the organs of the body. Its consequences can include autism and epilepsy through its effects on the brain. A team from the Institute of Medical Genetics at Cardiff University's School of Medicine was the first to identify the genes linked with the disease - TSC1 and TSC2.
The Institute is now leading a UK-wide study on a new treatment involving the drug Sirolimus. This was first identified from a soil sample taken from Easter Island and has been shown in the past to control the activity of a protein, mTOR, which is normally controlled by the TSC1 and TSC2 genes. If the genes fail, mTOR is too active leading to tuberous sclerosis.
The UK study tested the effects of Sirolimus on kidney tumours in patients with tuberous sclerosis and a related condition, LAM, a lung and kidney disease affecting young women. The study is at the half-way stage but after one year of treatment the diameters of the tumours have shrunk by an average of 26 per cent. A parallel study in the United States has also reported similar results.
Professor Julian Sampson, director of the Institute of Medical Genetics, said: "This is a small-scale study and we will be treating patients for a further year before it is completed. However, what we have seen so far is very promising and already justifies progression to a larger study in many more patients. The findings offer new hope for what is a very serious and distressing genetic disease."
Cardiff University
Now a UK study led by researchers at Cardiff University suggests that a chemical first found on Easter Island could treat the genetic disorder tuberous sclerosis.
Tuberous sclerosis is an inherited disease affecting children and adults which causes tumours to grow in many of the organs of the body. Its consequences can include autism and epilepsy through its effects on the brain. A team from the Institute of Medical Genetics at Cardiff University's School of Medicine was the first to identify the genes linked with the disease - TSC1 and TSC2.
The Institute is now leading a UK-wide study on a new treatment involving the drug Sirolimus. This was first identified from a soil sample taken from Easter Island and has been shown in the past to control the activity of a protein, mTOR, which is normally controlled by the TSC1 and TSC2 genes. If the genes fail, mTOR is too active leading to tuberous sclerosis.
The UK study tested the effects of Sirolimus on kidney tumours in patients with tuberous sclerosis and a related condition, LAM, a lung and kidney disease affecting young women. The study is at the half-way stage but after one year of treatment the diameters of the tumours have shrunk by an average of 26 per cent. A parallel study in the United States has also reported similar results.
Professor Julian Sampson, director of the Institute of Medical Genetics, said: "This is a small-scale study and we will be treating patients for a further year before it is completed. However, what we have seen so far is very promising and already justifies progression to a larger study in many more patients. The findings offer new hope for what is a very serious and distressing genetic disease."
Cardiff University
Tuberous Sclerosis Current Events and Tuberous Sclerosis News RSSAutism Consortium symposium draws record number of researchers, advocates, parents for autism update
The Autism Consortium, an innovative collaboration of researchers, clinicians, funders and families dedicated to catalyzing research and enhancing clinical care for autism spectrum disorders (ASDs), held its fourth annual symposium on October 28th, 2009, at Harvard Medical School in Boston.
Rutgers Research Tackles Childhood Epilepsy
Rutgers researchers have discovered a potential new way to treat childhood epilepsy using a widely available therapeutic drug.
Drug's epilepsy-prevention effect may be widely applicable
A drug with potential to prevent epilepsy caused by a genetic condition may also help prevent more common forms of epilepsy caused by brain injury.
Rare genetic disorder gives clues to autism, epilepsy, mental retardation
A rare genetic disorder called tuberous sclerosis complex (TSC) is yielding insight into a possible cause of some neurodevelopmental disorders: structural abnormalities in neurons, or brain cells.
The first autism disease genes
The autistic disorder was first described, more than sixty years ago, by Dr. Leo Kanner of the Johns Hopkins Hospital (USA), who created the new label 'early infantile autism'.
Drug reverses mental retardation caused by genetic disorder
UCLA researchers discovered that an FDA-approved drug reverses the brain dysfunction inflicted by a genetic disease called tuberous sclerosis complex (TSC).
Transplant drug sirolimus shrinks tumors, improves lung function
The drug sirolimus, normally used to help transplant patients fight organ rejection, may eventually be used as a less invasive treatment for a tumor called angiomyolipomata in patients with who would otherwise face surgery.
Pathway links inflammation, angiogenesis and breast cancer
A well-known inflammatory protein spawns an enzyme that inactivates two tumor-suppressing genes, ultimately triggering production of new blood vessels to nourish breast cancer cells.
Researchers make progress against lung disease attacking women in childbearing years
Researchers are advancing against a rare, deadly lung disease (related to hormones) that no one had even heard of a decade ago. The disease targets only women, striking them down during their childbearing years.
Bold Three-Stage Brain Operation for Intractable Seizures Appears Promising
Sadly, none of the treatments for epilepsy-anti-seizure medications, a procedure called vagus nerve stimulation, a special diet -could quell the electrical storms in the young boy's brain.
More Tuberous Sclerosis Current Events and Tuberous Sclerosis News Articles
 |
The Official Patient's Sourcebook on Tuberous Sclerosis by James N., M.D. Parker (Editor), Philip M. Parker (Editor) This book has been created for patients who have decided to make education and research an integral part of the treatment process. Although it also gives information useful to doctors, caregivers and other health professionals, it tells patients where and how to look for information covering virtually all topics related to tuberous sclerosis (also Adenoma sebaceum; Bourneville disease; Bourneville Pringle Syndrome; Epiloia; Phakomatosis TS; Tuberose Sclerosis), from the essentials to the most advanced areas of research. The title of this book includes the word official. This reflects the fact that the sourcebook draws from public, academic, government, and peer-reviewed research. Selected readings from various agencies are reproduced to give you some of the latest official information... |
 |
Tuberous Sclerosis Complex (International Child Neurology Association) by Paolo Curatolo (Author) Correlating new genetic data and basic science regarding tuberous sclerosis, this collection covers clinical presentation; reviews history and current diagnostic criteria; and notes recent advances in neuropathology, molecular genetics and neurobiology. Tuberous sclerosis incorporates malformations characterized by disturbances in cellular differentiation and growth. It appears with a complex association of different neurological phenotypes, including seizures, cognitive impairments and autism. |
 |
Tuberous Sclerosis - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker (Author) In March 2001, the National Institutes of Health issued the following warning: "The number of Web sites offering health-related resources grows every day. Many sites provide valuable information, while others may have information that is unreliable or misleading." Furthermore, because of the rapid increase in Internet-based information, many hours can be wasted searching, selecting, and printing. Since only the smallest fraction of information dealing with tuberous sclerosis is indexed in search engines, such as www.google.com or others, a non-systematic approach to Internet research can be not only time consuming, but also incomplete. This book was created for medical professionals, students, and members of the general public who want to conduct medical research using the most advanced... |
 |
Tuberous Sclerosis Complex (Developmental Perspectives in Psychiatry) by Manuel Rodriguez Gomez (Editor), Julian R. Sampson (Editor), Vicky Holets Whittemore (Editor) Tuberous Sclerosis is a genetic disease characterized by lesions of the skin and central nervous system, seizures, and sometimes severe mental retardation. This new edition of a classic work includes a biological analysis of underlying genetic causes. |
|
Neurologic symptoms affect most tuberous sclerosis patients. (Seizure Disorder Very Common).: An article from: Pediatric News by Helen Lippman (Author) This digital document is an article from Pediatric News, published by International Medical News Group on June 1, 2002. The length of the article is 509 words. The page length shown above is based on a typical 300-word page. The article is delivered in HTML format and is available in your Amazon.com Digital Locker immediately after purchase. You can view it with any web browser. Citation Details Title: Neurologic symptoms affect most tuberous sclerosis patients. (Seizure Disorder Very Common). Author: Helen Lippman Publication: Pediatric News (Magazine/Journal) Date: June 1, 2002 Publisher: International Medical News Group Volume: 36 Issue: 6 Page: 26(1) Distributed by Thomson... | |
|
Tuberous sclerosis complex.(Clinical Snapshot): An article from: Dermatology Nursing by Laura Musse (Author) This digital document is an article from Dermatology Nursing, published by Thomson Gale on October 1, 2005. The length of the article is 588 words. The page length shown above is based on a typical 300-word page. The article is delivered in HTML format and is available in your Amazon.com Digital Locker immediately after purchase. You can view it with any web browser. From the author: The "Clinical Snapshot" series provides a concise examination of a clinical presentation including history, treatment, patient education, and nursing measures. Using the format here, you are invited to submit your "Clinical Snapshot" to Dermatology Nursing. Citation Details Title: Tuberous sclerosis complex.(Clinical Snapshot) Author: Laura Musse Publication: Dermatology Nursing... | |
|
Clinical and Genetic Investigations into Tuberous Sclerosis and Recklinghausen's Neurofibromatosis: Contribution to Elucidation of Interrelationship and Eugenics of the Syndromes by Allan Borberg (Author) | |
|
21st Century Ultimate Medical Guide to Tuberous Sclerosis (TSC) - Authoritative Clinical Information for Physicians and Patients (Two CD-ROM Set) by PM Medical Health News (Author) This up-to-date and comprehensive set of two CD-ROM discs provides a superb collection of authoritative documents on the subject of tuberous sclerosis. Tuberous sclerosis is a rare genetic disease that causes noncancerous tumors to grow in the brain and other organs. Symptoms vary depending on the location of the tumors. For patients, practical information is provided in clearly written patient education documents. For medical professionals, doctor reference tools and texts have detailed technical information and clinical background material. There is no other reference that is as fast, convenient, and portable - everything you need to know, from the federal sources you trust. This thoroughly researched collection presents vital information from many authoritative sources: Food and... | |
|
Tuberous Sclerosis and Neurofibromatosis: Epidemiology, Pathophysiology, Biology, and Management : Proceedings of the International Symposium on Neu (Japan ... Foundation Publishing Series, No. 28) by International Symposium on Neurocutaneous Syndrome (Author), Yasumasa Ishibashi (Author), Yoshiaki Hori (Author), Yoshiaki Hori (Editor), Japan Intractable Diseases Research Foundation (Editor) | |
|
Tuberous Sclerosis and Allied Disorders: Clinical, Cellular, and Molecular Studies (Annals of the New York Academy of Sciences) by William G. Johnson (Author), Manuel R. Gomez (Editor) |
| © 2009 BrightSurf.com |