BDSRA 2015 CLN2 Whiting, Tracy, Katz
•
1 like•180 views
The laboratory is testing three approaches to delivering the TPP1 enzyme to treat CLN2 disease: enzyme replacement therapy via biweekly infusion; direct gene therapy to instruct brain cells to produce the enzyme; and ex vivo gene therapy using stem cells modified to continuously produce the enzyme with a single treatment. For ex vivo gene therapy, bone marrow cells are modified to produce TPP1 and re-injected into the brain or eye. Preliminary clinical trial data shows ex vivo gene therapy improved retinal response to light in a CLN2 patient compared to untreated patients, offering promise for a one-time curative treatment. The laboratory aims to optimize long-term enzyme delivery to delay disease progression in a dog model of CLN2.
Report
Share
Report
Share
Download to read offline
Recommended
Gene Technologies
Techniques to study genes include polymerase chain reaction (PCR) to amplify DNA fragments, using restriction enzymes to cut DNA at specific sequences, electrophoresis to separate DNA fragments by size, and DNA probes to find specific sequences. Genetic engineering techniques allow genes to be inserted into bacteria using vectors like plasmids. This allows production of proteins like human insulin. Golden rice has been genetically engineered to produce beta-carotene to reduce vitamin A deficiency in some countries. However, it has also raised ethical concerns about reducing biodiversity.
Cannabinoids and their effects on pain physiology
The document discusses the endocannabinoid system and its role in pain physiology. It summarizes evidence from animal experiments showing that cannabinoids have analgesic effects by reducing inflammatory mediators and modulating brain regions involved in pain processing. Evidence from human experiments also suggests cannabinoids can reduce pain unpleasantness and brain region connectivity associated with chronic pain, as well as play a role in placebo analgesia for both opioids and non-opioids. However, the clinical evidence for cannabinoids reducing pain is still considered weak.
Gene technology
The document outlines the steps involved in genetically engineering bacteria to produce human insulin. These include identifying and obtaining the insulin gene from human pancreas cells, inserting the gene into a bacterial plasmid vector, transforming the vector into host bacteria, selecting transformed bacteria using antibiotic resistance markers, and cloning the bacteria to mass produce human insulin. The document also discusses some advantages of producing insulin through genetic engineering compared to extracting it from animals.
BDSRA 2015 CLN6 Mole
This document summarizes the results of a study testing a gene therapy approach to treat vision loss in a mouse model of Batten disease. The study found that:
1) Photoreceptor function and cells are lost early in Cln6 mice, making it a good model.
2) Treating only photoreceptors with an AAV virus carrying Cln6 did not prevent retinal degeneration, as Cln6 is more highly expressed in inner retinal cells.
3) A new AAV virus was obtained that can target inner retinal cells like bipolar cells, which normally express high Cln6 levels. Future work will treat Cln6 mice with this new virus alone and combined with the original
Gene technology
The document describes the process of using gene technology to produce bacteria that synthesize human insulin. The key steps are:
1) Identifying the human insulin gene.
2) Isolating mRNA, making cDNA using reverse transcriptase, and cloning the DNA using DNA polymerase.
3) Inserting the DNA into a plasmid vector using restriction enzymes and DNA ligase.
4) Inserting the plasmid vector into a host bacterium.
5) Identifying genetically modified bacteria using antibiotic resistance genes and cloning/harvesting the human insulin. Treating diabetics with bacterial insulin provides the advantages of a low-cost, low-risk treatment.
2016 BDSRA Shyng, Nelvagal, Dearborn, Cooper, Sands CLN1
2016 BDSRA Shyng, Nelvagal, Dearborn, Cooper, Sands CLN1Batten Disease Support and Research Association
This study evaluated different methods of gene therapy to treat infantile Batten disease (INCL) in a mouse model. Intrathecal injection targeting the spinal cord alone extended lifespan by 3 months and showed motor deficits at 7 months while decreasing disease markers in the spinal cord but not brain. Intracranial injection targeting the brain alone extended lifespan by 5.3 months and showed motor deficits at 9 months while decreasing markers in the brain but not spinal cord. Combination intrathecal and intracranial injection provided the most effective treatment, extending lifespan by 11.5 months and delaying motor deficits until 15 months by decreasing disease markers in both the brain and spinal cord. Targeting both areas simultaneously provided dramatic improvement over targetingBDSRA 2015 CLN3 Kielian
Neuroinflammation contributes to neuron loss in juvenile Batten disease. The study tests the anti-inflammatory drug roflumilast in a mouse model of the disease. Researchers found that roflumilast treatment for 3 months improved motor function in mice and reduced microglia and astrocyte activation associated with neuroinflammation. The results suggest reducing neuroinflammation through anti-inflammatory drugs may help slow disease progression in juvenile Batten disease.
A-level Gene technology
Gene technology allows genes to be manipulated and transferred between organisms. The human insulin gene was identified, cloned, and inserted into plasmids. These plasmids were then inserted into E. coli bacteria that were grown to produce and secrete human insulin identical to insulin in humans. This process allows large quantities of safe human insulin to be continuously produced for treatment of diabetes.
Recommended
Gene Technologies
Techniques to study genes include polymerase chain reaction (PCR) to amplify DNA fragments, using restriction enzymes to cut DNA at specific sequences, electrophoresis to separate DNA fragments by size, and DNA probes to find specific sequences. Genetic engineering techniques allow genes to be inserted into bacteria using vectors like plasmids. This allows production of proteins like human insulin. Golden rice has been genetically engineered to produce beta-carotene to reduce vitamin A deficiency in some countries. However, it has also raised ethical concerns about reducing biodiversity.
Cannabinoids and their effects on pain physiology
The document discusses the endocannabinoid system and its role in pain physiology. It summarizes evidence from animal experiments showing that cannabinoids have analgesic effects by reducing inflammatory mediators and modulating brain regions involved in pain processing. Evidence from human experiments also suggests cannabinoids can reduce pain unpleasantness and brain region connectivity associated with chronic pain, as well as play a role in placebo analgesia for both opioids and non-opioids. However, the clinical evidence for cannabinoids reducing pain is still considered weak.
Gene technology
The document outlines the steps involved in genetically engineering bacteria to produce human insulin. These include identifying and obtaining the insulin gene from human pancreas cells, inserting the gene into a bacterial plasmid vector, transforming the vector into host bacteria, selecting transformed bacteria using antibiotic resistance markers, and cloning the bacteria to mass produce human insulin. The document also discusses some advantages of producing insulin through genetic engineering compared to extracting it from animals.
BDSRA 2015 CLN6 Mole
This document summarizes the results of a study testing a gene therapy approach to treat vision loss in a mouse model of Batten disease. The study found that:
1) Photoreceptor function and cells are lost early in Cln6 mice, making it a good model.
2) Treating only photoreceptors with an AAV virus carrying Cln6 did not prevent retinal degeneration, as Cln6 is more highly expressed in inner retinal cells.
3) A new AAV virus was obtained that can target inner retinal cells like bipolar cells, which normally express high Cln6 levels. Future work will treat Cln6 mice with this new virus alone and combined with the original
Gene technology
The document describes the process of using gene technology to produce bacteria that synthesize human insulin. The key steps are:
1) Identifying the human insulin gene.
2) Isolating mRNA, making cDNA using reverse transcriptase, and cloning the DNA using DNA polymerase.
3) Inserting the DNA into a plasmid vector using restriction enzymes and DNA ligase.
4) Inserting the plasmid vector into a host bacterium.
5) Identifying genetically modified bacteria using antibiotic resistance genes and cloning/harvesting the human insulin. Treating diabetics with bacterial insulin provides the advantages of a low-cost, low-risk treatment.
2016 BDSRA Shyng, Nelvagal, Dearborn, Cooper, Sands CLN1
2016 BDSRA Shyng, Nelvagal, Dearborn, Cooper, Sands CLN1Batten Disease Support and Research Association
This study evaluated different methods of gene therapy to treat infantile Batten disease (INCL) in a mouse model. Intrathecal injection targeting the spinal cord alone extended lifespan by 3 months and showed motor deficits at 7 months while decreasing disease markers in the spinal cord but not brain. Intracranial injection targeting the brain alone extended lifespan by 5.3 months and showed motor deficits at 9 months while decreasing markers in the brain but not spinal cord. Combination intrathecal and intracranial injection provided the most effective treatment, extending lifespan by 11.5 months and delaying motor deficits until 15 months by decreasing disease markers in both the brain and spinal cord. Targeting both areas simultaneously provided dramatic improvement over targetingBDSRA 2015 CLN3 Kielian
Neuroinflammation contributes to neuron loss in juvenile Batten disease. The study tests the anti-inflammatory drug roflumilast in a mouse model of the disease. Researchers found that roflumilast treatment for 3 months improved motor function in mice and reduced microglia and astrocyte activation associated with neuroinflammation. The results suggest reducing neuroinflammation through anti-inflammatory drugs may help slow disease progression in juvenile Batten disease.
A-level Gene technology
Gene technology allows genes to be manipulated and transferred between organisms. The human insulin gene was identified, cloned, and inserted into plasmids. These plasmids were then inserted into E. coli bacteria that were grown to produce and secrete human insulin identical to insulin in humans. This process allows large quantities of safe human insulin to be continuously produced for treatment of diabetes.
Zhong Nottingham Jan 2012 [FINAL]
1. The study tested whether maternal stress affects offspring recombination rates and the relationship between fitness and recombination in a host-pathogen system.
2. The results showed that maternal exposure to live or heat-killed pathogens did not affect offspring reproductive output but did influence offspring recombination rates in some treatment groups.
3. No correlation was found between recombination rates and reproductive output, suggesting fitness-associated recombination may be rare in this system. Maternal stress effects can have complex consequences on offspring stress response and genetic variation between generations.
Project presentation_Mara Grigoraki
This study investigated the immune-modulating properties of Agaricus bisporus (common button mushroom) on the murine immune system. The aim was to study how A. bisporus modulates immune responses and acts as an adjuvant in cases of allergy. Crude extracts from five A. bisporus varieties were tested for their ability to stimulate cytokine production from bone marrow dendritic cells. The varieties #123, #145 and #188 induced the highest immune responses. Protein content analysis suggested that A. bisporus lectin may be involved in its immunomodulatory effects. Recognition studies found that C-type lectin receptors and TLR2 play a role in the immune cells' recognition of A. bispor
Gene therapy
This document discusses gene therapy and its potential to treat diseases. It provides an overview of genes and how mutations can cause disease. Gene therapy involves inserting functional genes into patients' cells to replace mutated genes that cause illness. Viruses called vectors are used to deliver therapeutic genes into target cells. Some common vector types discussed are retroviruses, adenoviruses, and adeno-associated viruses. Both ex vivo and in vivo gene therapy approaches are described. The document reviews the history of gene therapy and various clinical trials that have been conducted to treat diseases like cancer, cystic fibrosis, and immunodeficiencies.
DSSI 2016 teix
This document discusses efforts to produce an analogue of the antibiotic Teixobactin through directed biosynthesis. Researchers at Novobiotic Pharmaceuticals aim to inhibit the N-methylation of phenylalanine in Teixobactin's biosynthesis using known methyltransferase inhibitors. Various fermentation and analytical methods are used to determine if inhibitors like sinefungin produce a des-methyl analogue that could be purified and tested for antimicrobial activity. Future work involves characterizing any observed analogues through additional purification, structure determination, and bioassays.
Bovine microfilareasis
This document describes the case of a sick 5-year-old female buffalo in its 7th month of pregnancy. The buffalo presented with inappetence, head pressing, bilateral lacrimation, debility, swollen hind limbs, difficulty bearing weight, and occasional circling. Bloodwork showed microcytic anemia and microfilaria larvae were found on microscopy. Fecal analysis detected Paramphistomes eggs. The buffalo was treated with oxytetracycline, anti-inflammatories, vitamins, and dextrose saline initially with no improvement. Further testing at VHRTC found microfilaria with nuclei on Geimsa's stain. Treatment with ivermectin cured the buffalo within
Sjogren ppt
This study examined the effects of bone marrow cell treatment on salivary glands in mice with Sjögren's syndrome. Researchers extracted mRNA from salivary gland cells of mice with Sjögren's syndrome and used real-time PCR to analyze gene expression. They found that bone marrow cell treatment upregulated genes related to saliva production and downregulated genes associated with inflammation. Specifically, amylase and parotid secretary protein genes were upregulated while the Sjögren's syndrome antigen gene was downregulated. Inflammatory cytokines were also downregulated and growth factors upregulated. This suggests bone marrow cell treatment may successfully repair damaged salivary glands by reducing inflammation and improving cell regeneration and differentiation.
Gene therapy
It is a form of therapy that involves inserting one or more corrective genes that have been designed in the laboratory, into the genetic material of a patient's cells to cure a genetic disease.
Types: somatic and germ cell gene therapy.
Submitted to: Dr. Ankit Sharma
SFN-2014
The document summarizes a study investigating the epigenetic regulatory mechanisms controlling BDNF expression during classical conditioning in pond turtles. The study found that methylation levels of the BDNF gene exons II and III changed after 15 minutes of conditioning. Exon II methylation increased while exon III methylation decreased. Inhibiting PDK1 blocked these conditioning-related methylation changes. ChIP assays also showed changes in binding of MeCP2, Tet1, CREB, and BHLHB2 to the BDNF exons after conditioning that were blocked by PDK1 inhibition. The results suggest PDK1 and PKA play roles in upstream epigenetic modifications of the BDNF gene during conditioning that facilitate differential transcription
Lesson 11 Gene Therapy
Gene therapy involves inserting a normal gene into a patient's cells to treat a genetic disorder, such as cystic fibrosis. Scientists are trying to develop gene therapy for cystic fibrosis by putting copies of the normal gene into patients' cells. Some early tests on cystic fibrosis patients showed improvements, but these did not last. In the future, gene therapy may be used to prevent genetic diseases by modifying genes in sex or egg cells so all cells have the correct version. However, gene therapy of sex cells is currently illegal.
2017 BDSRA Whiting and Katz CLN2
Researchers are developing long-term treatments for CLN2, a genetic disorder caused by a lack of the TPP1 enzyme. They have found that delivering TPP1 to the brain and eyes of an affected dog model using stem cells or gene therapy can delay symptoms and extend lifespan. For a cure, whole body delivery is needed since the disease affects multiple organs over time. Preliminary results suggest stem cell and gene therapy approaches show promise for long-term single-injection delivery of TPP1 to the brain, eyes, and eventually the entire body. Further trials are ongoing to optimize these treatments.
2018 BDSRA Whiting CLN2
A single injection of stem cells modified to produce the TPP1 enzyme showed potential for long-term treatment of CLN2 in a canine model. Preliminary results found that the stem cells delivered TPP1 to the brain for over 7 months after a single injection and preserved retinal function and structure over the same period. Successful long-term treatment of CLN2 will require delivering TPP1 to both the brain and retina, as vision loss results from degeneration in both tissues. While brain treatment extended lifespan, disease later appeared in other organs, indicating a cure will need whole-body TPP1 delivery via a one-time treatment.
2016 BDSRA Whiting & Katz CLN2
This document summarizes research into developing a long-term treatment for CLN2 disease using enzyme replacement therapy. The researchers are using a dog model of CLN2 to test delivering the missing TPP1 enzyme to the brain and eyes. They take bone marrow cells, modify them to produce TPP1, and inject them into the eye and brain where they continue long-term production of TPP1. Preliminary results show a single injection of these stem cells into the eyes preserves visual function for over 7 months by preventing retinal lesions. It also suggests treating the brain preserves cognitive function long-term. The goal is to develop a one-time curative treatment for CLN2 disease.
2014 BDSRA Davidson LINCL
1) The document describes a study testing gene therapy using AAV2-CLN2 viral vectors to deliver the CLN2 gene to the brains of dogs with late infantile Batten disease.
2) The therapy aims to produce the missing TPP1 enzyme in brain cells to slow disease progression. Treated dogs showed widespread TPP1 distribution in the brain and reduced neurological symptoms compared to untreated dogs.
3) The results indicate that AAV2-CLN2 gene therapy can significantly delay disease symptoms and improve quality of life in the canine model of Batten disease, demonstrating promise for translation to human patients.
Lincl katz
Late Infantile Batten Disease, also known as CLN2, is caused by a lack of the enzyme tripeptidyl peptidase-1 (TPP1), which is required to break down old and damaged proteins in cells. Without TPP1, proteins accumulate inside cells, especially in nerve cells in the brain and spinal cord. There are three approaches being tested in a Dachshund model for CLN2 to cure the disease by delivering TPP1 throughout the brain and spinal cord via the cerebrospinal fluid (CSF): enzyme infusion, gene therapy, and stem cell delivery. The enzyme infusion approach involves infusing purified TPP1 protein into the CSF, and a clinical trial is planned for 2013
2016 BDSRA Gray & Rozenberg CLN1
The document summarizes a study that tested a gene therapy treatment approach for Infantile Batten Disease (INCL) in mice. The study administered an AAV vector carrying the CLN1 gene via intrathecal injection to INCL mice at different ages corresponding to disease stages. Mice treated at 4 weeks or earlier showed therapeutic benefits like improved survival and quality of life, with mice treated at 1 week still alive and healthy at 15 months. Treatment after onset of symptoms at 20 weeks or later provided only modest benefits. The results demonstrate the importance of early intervention for gene therapy to be most effective in treating INCL.
Toward Precision Medicine in Neurological Disease by David Goldstein
View the webinar at http://www.knome.com/webinar-toward-precision-medicine-neurological-disease. In this presentation, Dr. Goldstein reports progress in identifying pathogenic mutations large-scale scale studies in epilepsy, in particular focusing on identifying de novo mutations as a cause of the epileptic encephalopathies. Next he discusses how sequencing is being used to diagnose rare serious unresolved genetic conditions. Finally, Dr. Goldstein describes a number of examples in which a secure genetic diagnosis has led directly to a change in clinical management.
BDSRA 2015 CLN1 Hofmann
This study tested intrathecal enzyme replacement therapy (ERT) in a mouse model of infantile Batten disease. Mice lacking the enzyme palmitoyl-protein thioesterase 1 (PPT1) received a single intrathecal injection of recombinant human PPT1 at 6 weeks of age. This prevented decline in motor function, improved survival, and reduced brain and spinal cord pathology compared to untreated mice. The effects were similar to ERT for another form of Batten disease. This suggests intrathecal ERT may help treat infantile Batten disease caused by PPT1 deficiency in humans.
Gene therapy
Gene therapy involves introducing genes into cells to treat disease. It can be used for both somatic and germ line cells. Viruses are often used as vectors to deliver therapeutic genes. Gene therapy for diabetes may involve transplanting genetically modified islet cells to produce insulin in response to blood glucose levels, inducing tolerance to one's own islet cells to prevent autoimmune destruction, or adding genes to increase islet cell survival. The goals are to maintain normal blood glucose levels regardless of diet and provide an unlimited source of insulin-producing cells.
Gene Therapy
In this slide, You will get to learn abut Gene Therapy and different types of gene therapy. Various method of Gene Therapy and Advantage & Disadvantage and Recent advances in Gene Therapy.
2014 BDSRA Mole JNCL
The laboratory is studying juvenile Batten disease (JNCL), which is caused by mutations in the CLN3 gene. They are using yeast models to simplify the study of what CLN3 does and how mutations affect it, in order to identify potential drug targets or therapeutic approaches. Key projects involve studying the effects of different CLN3 mutations in yeast and human cells, and developing gene therapy for vision loss in mouse models of the disease. The goal is to gain knowledge that can be applied to develop and test new therapeutic strategies for treating CLN3 disease and overcoming the challenges it presents.
Transgenic animals and process to make transgenic animals
The document summarizes topics related to transgenic animals and gene therapy. It discusses transgenic cows, sheep, poultry, and fish. For each animal, it describes the process used to create transgenic versions, including pronuclear microinjection and somatic cell nuclear transfer. Benefits include producing human therapeutic proteins and altering milk composition. Challenges include high costs and low success rates. Gene therapy techniques like viral vectors and electroporation are explained for inserting genes into tissues to treat disease. Somatic gene therapy aims to modify individual patients while germline gene therapy alters heritable genes passed to offspring.
Seminario/ BIOLOGIA MOLECULAR/ Majo Perez
This document summarizes a study examining how exposure to the nicotine-derived compound 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone (NNK) affects the proteome of malignant epithelial cells and surrounding stroma. The study used techniques like 2D-DIGE, immunoblotting, qRT-PCR, and immunohistochemistry to identify specific protein changes in animal tissues and human lung cells exposed to NNK. The results helped show which proteins are involved in lung cancer development related to NNK exposure and could help develop new medicines.
More Related Content
What's hot
Zhong Nottingham Jan 2012 [FINAL]
1. The study tested whether maternal stress affects offspring recombination rates and the relationship between fitness and recombination in a host-pathogen system.
2. The results showed that maternal exposure to live or heat-killed pathogens did not affect offspring reproductive output but did influence offspring recombination rates in some treatment groups.
3. No correlation was found between recombination rates and reproductive output, suggesting fitness-associated recombination may be rare in this system. Maternal stress effects can have complex consequences on offspring stress response and genetic variation between generations.
Project presentation_Mara Grigoraki
This study investigated the immune-modulating properties of Agaricus bisporus (common button mushroom) on the murine immune system. The aim was to study how A. bisporus modulates immune responses and acts as an adjuvant in cases of allergy. Crude extracts from five A. bisporus varieties were tested for their ability to stimulate cytokine production from bone marrow dendritic cells. The varieties #123, #145 and #188 induced the highest immune responses. Protein content analysis suggested that A. bisporus lectin may be involved in its immunomodulatory effects. Recognition studies found that C-type lectin receptors and TLR2 play a role in the immune cells' recognition of A. bispor
Gene therapy
This document discusses gene therapy and its potential to treat diseases. It provides an overview of genes and how mutations can cause disease. Gene therapy involves inserting functional genes into patients' cells to replace mutated genes that cause illness. Viruses called vectors are used to deliver therapeutic genes into target cells. Some common vector types discussed are retroviruses, adenoviruses, and adeno-associated viruses. Both ex vivo and in vivo gene therapy approaches are described. The document reviews the history of gene therapy and various clinical trials that have been conducted to treat diseases like cancer, cystic fibrosis, and immunodeficiencies.
DSSI 2016 teix
This document discusses efforts to produce an analogue of the antibiotic Teixobactin through directed biosynthesis. Researchers at Novobiotic Pharmaceuticals aim to inhibit the N-methylation of phenylalanine in Teixobactin's biosynthesis using known methyltransferase inhibitors. Various fermentation and analytical methods are used to determine if inhibitors like sinefungin produce a des-methyl analogue that could be purified and tested for antimicrobial activity. Future work involves characterizing any observed analogues through additional purification, structure determination, and bioassays.
Bovine microfilareasis
This document describes the case of a sick 5-year-old female buffalo in its 7th month of pregnancy. The buffalo presented with inappetence, head pressing, bilateral lacrimation, debility, swollen hind limbs, difficulty bearing weight, and occasional circling. Bloodwork showed microcytic anemia and microfilaria larvae were found on microscopy. Fecal analysis detected Paramphistomes eggs. The buffalo was treated with oxytetracycline, anti-inflammatories, vitamins, and dextrose saline initially with no improvement. Further testing at VHRTC found microfilaria with nuclei on Geimsa's stain. Treatment with ivermectin cured the buffalo within
Sjogren ppt
This study examined the effects of bone marrow cell treatment on salivary glands in mice with Sjögren's syndrome. Researchers extracted mRNA from salivary gland cells of mice with Sjögren's syndrome and used real-time PCR to analyze gene expression. They found that bone marrow cell treatment upregulated genes related to saliva production and downregulated genes associated with inflammation. Specifically, amylase and parotid secretary protein genes were upregulated while the Sjögren's syndrome antigen gene was downregulated. Inflammatory cytokines were also downregulated and growth factors upregulated. This suggests bone marrow cell treatment may successfully repair damaged salivary glands by reducing inflammation and improving cell regeneration and differentiation.
Gene therapy
It is a form of therapy that involves inserting one or more corrective genes that have been designed in the laboratory, into the genetic material of a patient's cells to cure a genetic disease.
Types: somatic and germ cell gene therapy.
Submitted to: Dr. Ankit Sharma
SFN-2014
The document summarizes a study investigating the epigenetic regulatory mechanisms controlling BDNF expression during classical conditioning in pond turtles. The study found that methylation levels of the BDNF gene exons II and III changed after 15 minutes of conditioning. Exon II methylation increased while exon III methylation decreased. Inhibiting PDK1 blocked these conditioning-related methylation changes. ChIP assays also showed changes in binding of MeCP2, Tet1, CREB, and BHLHB2 to the BDNF exons after conditioning that were blocked by PDK1 inhibition. The results suggest PDK1 and PKA play roles in upstream epigenetic modifications of the BDNF gene during conditioning that facilitate differential transcription
Lesson 11 Gene Therapy
Gene therapy involves inserting a normal gene into a patient's cells to treat a genetic disorder, such as cystic fibrosis. Scientists are trying to develop gene therapy for cystic fibrosis by putting copies of the normal gene into patients' cells. Some early tests on cystic fibrosis patients showed improvements, but these did not last. In the future, gene therapy may be used to prevent genetic diseases by modifying genes in sex or egg cells so all cells have the correct version. However, gene therapy of sex cells is currently illegal.
What's hot (9)
Similar to BDSRA 2015 CLN2 Whiting, Tracy, Katz
2017 BDSRA Whiting and Katz CLN2
Researchers are developing long-term treatments for CLN2, a genetic disorder caused by a lack of the TPP1 enzyme. They have found that delivering TPP1 to the brain and eyes of an affected dog model using stem cells or gene therapy can delay symptoms and extend lifespan. For a cure, whole body delivery is needed since the disease affects multiple organs over time. Preliminary results suggest stem cell and gene therapy approaches show promise for long-term single-injection delivery of TPP1 to the brain, eyes, and eventually the entire body. Further trials are ongoing to optimize these treatments.
2018 BDSRA Whiting CLN2
A single injection of stem cells modified to produce the TPP1 enzyme showed potential for long-term treatment of CLN2 in a canine model. Preliminary results found that the stem cells delivered TPP1 to the brain for over 7 months after a single injection and preserved retinal function and structure over the same period. Successful long-term treatment of CLN2 will require delivering TPP1 to both the brain and retina, as vision loss results from degeneration in both tissues. While brain treatment extended lifespan, disease later appeared in other organs, indicating a cure will need whole-body TPP1 delivery via a one-time treatment.
2016 BDSRA Whiting & Katz CLN2
This document summarizes research into developing a long-term treatment for CLN2 disease using enzyme replacement therapy. The researchers are using a dog model of CLN2 to test delivering the missing TPP1 enzyme to the brain and eyes. They take bone marrow cells, modify them to produce TPP1, and inject them into the eye and brain where they continue long-term production of TPP1. Preliminary results show a single injection of these stem cells into the eyes preserves visual function for over 7 months by preventing retinal lesions. It also suggests treating the brain preserves cognitive function long-term. The goal is to develop a one-time curative treatment for CLN2 disease.
2014 BDSRA Davidson LINCL
1) The document describes a study testing gene therapy using AAV2-CLN2 viral vectors to deliver the CLN2 gene to the brains of dogs with late infantile Batten disease.
2) The therapy aims to produce the missing TPP1 enzyme in brain cells to slow disease progression. Treated dogs showed widespread TPP1 distribution in the brain and reduced neurological symptoms compared to untreated dogs.
3) The results indicate that AAV2-CLN2 gene therapy can significantly delay disease symptoms and improve quality of life in the canine model of Batten disease, demonstrating promise for translation to human patients.
Lincl katz
Late Infantile Batten Disease, also known as CLN2, is caused by a lack of the enzyme tripeptidyl peptidase-1 (TPP1), which is required to break down old and damaged proteins in cells. Without TPP1, proteins accumulate inside cells, especially in nerve cells in the brain and spinal cord. There are three approaches being tested in a Dachshund model for CLN2 to cure the disease by delivering TPP1 throughout the brain and spinal cord via the cerebrospinal fluid (CSF): enzyme infusion, gene therapy, and stem cell delivery. The enzyme infusion approach involves infusing purified TPP1 protein into the CSF, and a clinical trial is planned for 2013
2016 BDSRA Gray & Rozenberg CLN1
The document summarizes a study that tested a gene therapy treatment approach for Infantile Batten Disease (INCL) in mice. The study administered an AAV vector carrying the CLN1 gene via intrathecal injection to INCL mice at different ages corresponding to disease stages. Mice treated at 4 weeks or earlier showed therapeutic benefits like improved survival and quality of life, with mice treated at 1 week still alive and healthy at 15 months. Treatment after onset of symptoms at 20 weeks or later provided only modest benefits. The results demonstrate the importance of early intervention for gene therapy to be most effective in treating INCL.
Toward Precision Medicine in Neurological Disease by David Goldstein
View the webinar at http://www.knome.com/webinar-toward-precision-medicine-neurological-disease. In this presentation, Dr. Goldstein reports progress in identifying pathogenic mutations large-scale scale studies in epilepsy, in particular focusing on identifying de novo mutations as a cause of the epileptic encephalopathies. Next he discusses how sequencing is being used to diagnose rare serious unresolved genetic conditions. Finally, Dr. Goldstein describes a number of examples in which a secure genetic diagnosis has led directly to a change in clinical management.
BDSRA 2015 CLN1 Hofmann
This study tested intrathecal enzyme replacement therapy (ERT) in a mouse model of infantile Batten disease. Mice lacking the enzyme palmitoyl-protein thioesterase 1 (PPT1) received a single intrathecal injection of recombinant human PPT1 at 6 weeks of age. This prevented decline in motor function, improved survival, and reduced brain and spinal cord pathology compared to untreated mice. The effects were similar to ERT for another form of Batten disease. This suggests intrathecal ERT may help treat infantile Batten disease caused by PPT1 deficiency in humans.
Gene therapy
Gene therapy involves introducing genes into cells to treat disease. It can be used for both somatic and germ line cells. Viruses are often used as vectors to deliver therapeutic genes. Gene therapy for diabetes may involve transplanting genetically modified islet cells to produce insulin in response to blood glucose levels, inducing tolerance to one's own islet cells to prevent autoimmune destruction, or adding genes to increase islet cell survival. The goals are to maintain normal blood glucose levels regardless of diet and provide an unlimited source of insulin-producing cells.
Gene Therapy
In this slide, You will get to learn abut Gene Therapy and different types of gene therapy. Various method of Gene Therapy and Advantage & Disadvantage and Recent advances in Gene Therapy.
2014 BDSRA Mole JNCL
The laboratory is studying juvenile Batten disease (JNCL), which is caused by mutations in the CLN3 gene. They are using yeast models to simplify the study of what CLN3 does and how mutations affect it, in order to identify potential drug targets or therapeutic approaches. Key projects involve studying the effects of different CLN3 mutations in yeast and human cells, and developing gene therapy for vision loss in mouse models of the disease. The goal is to gain knowledge that can be applied to develop and test new therapeutic strategies for treating CLN3 disease and overcoming the challenges it presents.
Transgenic animals and process to make transgenic animals
The document summarizes topics related to transgenic animals and gene therapy. It discusses transgenic cows, sheep, poultry, and fish. For each animal, it describes the process used to create transgenic versions, including pronuclear microinjection and somatic cell nuclear transfer. Benefits include producing human therapeutic proteins and altering milk composition. Challenges include high costs and low success rates. Gene therapy techniques like viral vectors and electroporation are explained for inserting genes into tissues to treat disease. Somatic gene therapy aims to modify individual patients while germline gene therapy alters heritable genes passed to offspring.
Seminario/ BIOLOGIA MOLECULAR/ Majo Perez
This document summarizes a study examining how exposure to the nicotine-derived compound 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone (NNK) affects the proteome of malignant epithelial cells and surrounding stroma. The study used techniques like 2D-DIGE, immunoblotting, qRT-PCR, and immunohistochemistry to identify specific protein changes in animal tissues and human lung cells exposed to NNK. The results helped show which proteins are involved in lung cancer development related to NNK exposure and could help develop new medicines.
Aspect of-stem-cell-based-therapies-kwang-yul-cha
1) CHA hospitals are conducting several clinical trials using various stem cell sources to treat different conditions such as blindness, Parkinson's disease, cerebral palsy, and peripheral artery disease.
2) Trials are using stem cells from embryonic sources, fetal tissue, cord blood, placental tissue, adipose tissue, and others. Early results show signs of safety and efficacy for blindness, Parkinson's, and cerebral palsy.
3) CHA has a vertically integrated model to discover, develop, and deliver stem cell therapies with research institutes, biotech ventures, GMP facilities, and hospitals all under one organization to enable stem cell clinical trials from start to finish.
Improving endometrial receptivity f
This document discusses improving endometrial receptivity to increase IVF success rates. It defines endometrial receptivity and the implantation process, and assesses receptivity through endometrial histology, ultrasound and Doppler. Treatments like aspirin, heparin and IVIG are discussed to improve receptivity in patients with autoimmune issues or repeated IVF failures. Luteal phase support regimens and endometrial preparation protocols for oocyte/embryo donation cycles are also outlined. The goal is to optimize the environment for implantation and enhance IVF success rates.
Gene therapy
Advances in biochemistry and molecular biology have helped to understand the genetic basis of inherited diseases.
Gene therapy was once considered a fantasy (imaginary).
It was a dream of the researchers to replace the defective genes with good ones and cure the genetic disorders.
Biotechnology CLIL module
Biotechnology uses living organisms to produce useful materials. It has both traditional and innovative forms. Recombinant DNA technology allows genes to be transferred between organisms. This has led to important medical advances like producing insulin in bacteria. However, there are also concerns about GMOs, including possible allergic reactions in humans and the risk of transgenic genes escaping into the wild. Overall, biotechnology presents both opportunities and risks that require careful consideration.
Non-Viral Φc31 Integrase Mediated In Vivo Gene Delivery to the Adult Murine K...
Non-Viral Φc31 Integrase Mediated In Vivo Gene Delivery to the Adult Murine K...CrimsonPublishersUrologyJournal
Non-Viral Φc31 Integrase Mediated In Vivo Gene Delivery to the Adult Murine Kidney by Daniel C Chung, Matthew C Canver, Xiaofeng Zuo and Jean Bennett and Joshua H Lipschutz* in Experimental Techniques in Urology & Nephrologymolecular folding
The document summarizes three scientific articles:
1) A new method can sequence a fetus's genome using only the fetal and mother's DNA, without the father's DNA. This could help study mutations and reduce disease comorbidity.
2) A synthetic protein called EP67 can activate the immune system within two hours, showing potential as a vaccine adjuvant. It was effective in mice infected with flu virus.
3) Medical research investigating the causes of diseases and new treatments is important to advance healthcare and help patients. Studies of fetal DNA and immune-activating proteins could lead to cures for currently untreatable or drug-resistant conditions.
Sigma xi presentation
Gold nanoparticle/interferon conjugates were created as a novel targeted drug delivery mechanism for pancreatic cancer. Interferons IFN-α and IFN-β were conjugated to gold nanoparticles via PEGylation to stabilize the proteins. The conjugates were introduced to MIA PaCa-2 pancreatic cancer cell cultures. UV-Vis spectrometry and zeta potential analysis confirmed the successful creation and high stability of the 20nm GNP/interferon conjugates. A TUNEL assay showed the conjugates induced significant apoptosis in the cancer cells after 48 hours, while free interferons caused less cell death. This novel drug delivery system utilizes the cell-specific binding of interferons to selectively target and destroy pancreatic cancer cells through
Similar to BDSRA 2015 CLN2 Whiting, Tracy, Katz (20)
Toward Precision Medicine in Neurological Disease by David Goldstein
Toward Precision Medicine in Neurological Disease by David Goldstein
Transgenic animals and process to make transgenic animals
Transgenic animals and process to make transgenic animals
Non-Viral Φc31 Integrase Mediated In Vivo Gene Delivery to the Adult Murine K...
Non-Viral Φc31 Integrase Mediated In Vivo Gene Delivery to the Adult Murine K...
More from Batten Disease Support and Research Association
2018 BDSRA Gayko
Early signs and symptoms of childhood onset neuronal ceroid lipofuscinosis (NCL) subtypes were identified through a literature review. The most common age of onset is between two and five years. Early symptoms include neurological regression, speech delay, ataxia, and seizures. Facilitators of early diagnosis include parents identifying subtle symptoms and increased awareness among healthcare professionals, while lack of awareness and subtle initial symptoms can hinder diagnosis.
2018 BDSRA Vierhile
This document outlines the differences between clinical and research visits at a Batten Center of Excellence. Clinical visits focus on individual patient care, involve a medical exam and documentation in medical records, and can provide recommendations to referring doctors. Research visits aim to answer research questions, require consent and confidentiality, involve collecting and analyzing group data, and do not typically provide individual reports. The center saw 19 new and 19 returning subjects with various forms of Batten disease over the past year for clinical, research, or combined visits.
2018 BDSRA Storch CLN7
- CLN7 disease is caused by mutations in the MFSD8/CLN7 gene and leads to the variant late-infantile phenotype in patients. MFSD8/CLN7 encodes a lysosomal membrane protein of unknown function.
- The researchers developed a mouse model of CLN7 disease through knockout of the Cln7 gene. This mouse model recapitulates key features of the human disease including lysosomal dysfunction in the brain and retina.
- Quantitative proteomic studies on the Cln7 knockout mouse lysosomes revealed depletion of multiple soluble lysosomal proteins, indicating loss of Cln7 affects the soluble lysosomal proteome. This suggests activating lysosomal biogenesis and function through small
2018 BDSRA Gray CLN1
This document discusses combining delivery routes for more effective gene therapy for infantile neuronal ceroid lipofuscinosis (INCL), a fatal genetic disorder. The researchers tested delivering gene therapy via intrathecal injection alone and in combination with intravenous injection in mouse models of INCL. They found that early treatment was more effective, and higher doses provided greater benefits. Combining intrathecal and intravenous delivery further improved survival and behavior over intrathecal delivery alone in early-symptomatic mice. The researchers conclude that dual-route delivery shows promise for treating INCL patients who cannot be treated in the pre-symptomatic stage.
2018 BDSRA Hughes CLN6
Defects in CLN6 neuron cell cultures can be corrected using media from normal control cells. Using mass spectrometry to analyze the media, researchers found additional lysosomal proteins secreted from CLN6 cells that are not present in normal cell media and may contribute to disease. These proteins are being investigated further for their potential as disease biomarkers and roles in CLN6 disease pathogenesis. While CLN6 mRNA has been found in extracellular vesicles, sequences aimed at enhancing extracellular trafficking of mRNAs from gene therapy vectors have worked in some cell types but not neurons. Researchers are now searching for new sequences that can enhance CLN6 gene therapy delivery in the brain.
2018 BDSRA Roine CLN3
This document summarizes a study that investigated abnormalities in structural brain networks in patients with juvenile neuronal ceroid lipofuscinosis (CLN3) using diffusion MRI. The study found that patients with CLN3 had increased characteristic path length and decreased small-worldness, global efficiency, clustering coefficient, strength, and degree of structural brain networks compared to controls. Locally, patients with CLN3 had decreased betweenness centrality in the right thalamus and increased betweenness centrality in the right midcingulate cortex compared to controls. The findings suggest decreased integration of structural brain networks in CLN3.
2018 BDSRA Roberge
Gentamicin B1, a minor component of the antibiotic gentamicin, can induce readthrough of premature termination codons (PTCs) and restore production of full-length proteins. Initial results showed gentamicin B1 administered systemically induced PTC readthrough in peripheral tissues but not the brain of a mouse model. Further questions include whether intracranial administration can induce brain readthrough and ameliorate disease, and if chronic administration is possible at safe doses. Gentamicin B1 may be a therapeutic strategy for Batten disease caused by PTC mutations by restoring full protein production.
2018 BDSRA Circumvent Pharmaceuticals CLN1
Circumvent Pharmaceuticals is developing N-tert-butylhydroxylamine (NtBuHA) as a potential therapy for CLN1 Batten disease. Preclinical studies show NtBuHA mimics the deficient PPT1 enzyme and clears harmful lysosomal storage in mouse models, improving outcomes. Circumvent has completed preclinical characterization of NtBuHA, showing it is stable, has low toxicity, and good oral bioavailability in rats. Their goal is to submit an Investigational New Drug application and expedite clinical trials of NtBuHA to potentially provide the first treatment for this currently incurable disease.
2018 BDSRA Cooper, Nelvagal
This document discusses new perspectives on Batten disease and developing treatments. It summarizes that Batten disease affects multiple cell types in the brain and nervous system beyond just neurons. Developing treatments requires delivering therapies to broader areas of the brain and nervous system beyond mice models. The research aims to treat affected organs and develop new animal models and targets to more effectively treat the disease.
2018 BDSRA Feuerborn
This document discusses Batten disease, a rare neurodegenerative disease that affects children. It provides background on Batten disease, which results in seizures, vision loss, and premature death. The document outlines a research study involving interviews with three groups: caregivers of Batten disease patients, individuals from a rare disease advocacy organization, and individuals from a Batten disease foundation. The goal is to understand the challenges of living with a rare disease and identify ways to improve care and support for patients and families.
2018 BDSRA Cotman MGH Center for Genomic Medicine
This document summarizes the research of the MGH Center for Genomic Medicine Ba>en Disease Research Program. They are invesFgaFng the molecular basis of neuronal ceroid lipofuscinosis (NCL) through geneFc research with the goal of developing drugs. Their objecFves include understanding how geneFc mutaFons lead to NCL at the cellular level and which processes cause disease symptoms. They use geneFc model organisms and human cell cultures to test hypotheses and idenFfy drug targets. Their research aims to improve detecFon of geneFc causes, further the understanding of NCL proteins, and advance translaFon of findings to help human paF
2018 BDSRA Cotman CLN3
This document describes research into identifying genetic and pharmacological modifiers of CLN3 disease. The researchers are using several approaches, including drug screening in cell models of CLN3 disease derived from mice and patients, as well as mouse genetics. They have developed cell and mouse models to test candidate disease modifiers. Recent results suggest lysosomal calcium channels may modify CLN3 disease progression and could be targeted for new drug development.
2018 BDSRA Dang Do CLN3
This document summarizes research on CLN3-Batten disease, a rare neurodegenerative lysosomal storage disorder. It describes a natural history study and biorepository at the National Institutes of Health to gather clinical data and biosamples from well-characterized patients over time and across institutions. The study aims to identify blood-based biomarkers for diagnosis and disease monitoring, clinically meaningful outcomes measures, and advance collaborative research efforts between patients, clinicians, and researchers to develop therapies for this currently untreatable disease.
2017 BDSRA Tammen, Grupen, James and Delerue CLN6 CLN7
2017 BDSRA Tammen, Grupen, James and Delerue CLN6 CLN7Batten Disease Support and Research Association
This document summarizes current research being conducted on Batten disease using sheep models at the University of Sydney. Project 1 involves maintaining and characterizing a flock of Merino sheep with CLN6 mutations to study disease progression and develop treatments. Project 2 aims to use CRISPR/Cas9 genome editing to generate sheep with a CLN7 mutation, as this variant currently lacks treatment options and a large animal model. The research seeks to better understand Batten disease mechanisms and evaluate therapies using these ovine models.2017 BDSRA Storch and Danyukova CLN7
The document summarizes research on CLN7 disease using a novel mouse model lacking the CLN7 gene (Cln7 KO mice). Key findings include:
1) Cln7 KO mice show photoreceptor loss and neuroinflammation in the retina by 1 month of age and lysosomal storage and neuroinflammation in the brain by 3-5 months.
2) The Cln7 KO mouse model recapitulates features of human CLN7 disease like retinal degeneration and lysosomal dysfunction.
3) Analysis of the Cln7 KO mice will help understand CLN7 function and test potential therapies for CLN7 disease. The retina is a good model to rapidly test therapies due to
2017 BDSRA Stehr and van der Putten, CLN3
The NCL Foundation was established in 2002 to support research on Neuronal Ceroid Lipofuscinosis (NCL), the most common form of childhood dementia. As an orphan disease, NCL receives little attention or funding despite affecting around 700 children in Germany and 70,000 worldwide. The Foundation aims to recruit researchers and laboratories to study NCL, initiate collaborations between experts, and fund projects that have reached pre-clinical trials with the goal of developing future therapies. Through networking, education, and modest funding, the Foundation coordinates global research efforts to find treatments and a cure for NCL.
2017 BDSRA Autti, U. Roine, T. Roine, Aberg, Tokola, Balk, Hakkarainen, Manne...
2017 BDSRA Autti, U. Roine, T. Roine, Aberg, Tokola, Balk, Hakkarainen, Manne...Batten Disease Support and Research Association
Rustic global and widespread local white matter abnormalities in juvenile neuronal ceroid lipofuscinosis2017 BDSRA Trometer, Potier, Cournoyer, and Schermer
This document describes a new six-plex mass spectrometry method to measure enzyme activities in dried blood spots that is able to distinguish between normal and low enzyme activity samples for six lysosomal storage disorders (MPS II, MPS IIIB, MPS IVA, MPS VI, MPS VII and CLN2). The method requires a single dried blood spot, shows good precision and linearity for each enzyme, and clearly differentiates between normal and low activity samples.
2017 BDSRA Mole, Band, Codd and West CLN3, CLN6, CLN7
2017 BDSRA Mole, Band, Codd and West CLN3, CLN6, CLN7Batten Disease Support and Research Association
The Batten Disease Family Association (BDFA) aims to support families, raise awareness, and fund research into Batten disease. As part of the BATCure project, a 3-year European research initiative to develop new therapies for CLN3, CLN6, and CLN7 Batten disease, the BDFA works to ensure the patient voice is heard. The BDFA collaborates with patient organizations across Europe and the world on the BATCure project. Survey results from patients and families will directly inform the consortium's work. The BDFA also provides information resources to families and organizes laboratory open days for families to meet researchers.2017 BDSRA Katz and Whiting All forms
This document discusses canine models for testing therapies for neuronal ceroid lipofuscinoses (NCLs), a group of fatal genetic lysosomal storage diseases. Eight forms of NCL have been identified in 13 dog breeds. Testing therapies in a Dachshund model of CLN2 disease led to a successful enzyme replacement therapy for children with that form of NCL. The researchers work to establish research colonies of naturally occurring canine NCL models to make them available for preclinical testing of therapies for all forms of human NCL.
More from Batten Disease Support and Research Association (20)
2017 BDSRA Tammen, Grupen, James and Delerue CLN6 CLN7
2017 BDSRA Tammen, Grupen, James and Delerue CLN6 CLN7
2017 BDSRA Autti, U. Roine, T. Roine, Aberg, Tokola, Balk, Hakkarainen, Manne...
2017 BDSRA Autti, U. Roine, T. Roine, Aberg, Tokola, Balk, Hakkarainen, Manne...
2017 BDSRA Trometer, Potier, Cournoyer, and Schermer
2017 BDSRA Trometer, Potier, Cournoyer, and Schermer
2017 BDSRA Mole, Band, Codd and West CLN3, CLN6, CLN7
2017 BDSRA Mole, Band, Codd and West CLN3, CLN6, CLN7
Recently uploaded
Post-Menstrual Smell- When to Suspect Vaginitis.pptx
Do you have abnormal smell after periods? It may be vaginitis. Do not worry, herbal medicine Fuyan Pill can help you get a cure.
Osvaldo Bernardo Muchanga-GASTROINTESTINAL INFECTIONS AND GASTRITIS-2024.pdf
Osvaldo Bernardo Muchanga-GASTROINTESTINAL INFECTIONS AND GASTRITIS-2024.pdfOsvaldo Bernardo Muchanga
GASTROINTESTINAL INFECTIONS AND GASTRITIS
Osvaldo Bernardo Muchanga
Gastrointestinal Infections
GASTROINTESTINAL INFECTIONS result from the ingestion of pathogens that cause infections at the level of this tract, generally being transmitted by food, water and hands contaminated by microorganisms such as E. coli, Salmonella, Shigella, Vibrio cholerae, Campylobacter, Staphylococcus, Rotavirus among others that are generally contained in feces, thus configuring a FECAL-ORAL type of transmission.
Among the factors that lead to the occurrence of gastrointestinal infections are the hygienic and sanitary deficiencies that characterize our markets and other places where raw or cooked food is sold, poor environmental sanitation in communities, deficiencies in water treatment (or in the process of its plumbing), risky hygienic-sanitary habits (not washing hands after major and/or minor needs), among others.
These are generally consequences (signs and symptoms) resulting from gastrointestinal infections: diarrhea, vomiting, fever and malaise, among others.
The treatment consists of replacing lost liquids and electrolytes (drinking drinking water and other recommended liquids, including consumption of juicy fruits such as papayas, apples, pears, among others that contain water in their composition).
To prevent this, it is necessary to promote health education, improve the hygienic-sanitary conditions of markets and communities in general as a way of promoting, preserving and prolonging PUBLIC HEALTH.
Gastritis and Gastric Health
Gastric Health is one of the most relevant concerns in human health, with gastrointestinal infections being among the main illnesses that affect humans.
Among gastric problems, we have GASTRITIS AND GASTRIC ULCERS as the main public health problems. Gastritis and gastric ulcers normally result from inflammation and corrosion of the walls of the stomach (gastric mucosa) and are generally associated (caused) by the bacterium Helicobacter pylor, which, according to the literature, this bacterium settles on these walls (of the stomach) and starts to release urease that ends up altering the normal pH of the stomach (acid), which leads to inflammation and corrosion of the mucous membranes and consequent gastritis or ulcers, respectively.
In addition to bacterial infections, gastritis and gastric ulcers are associated with several factors, with emphasis on prolonged fasting, chemical substances including drugs, alcohol, foods with strong seasonings including chilli, which ends up causing inflammation of the stomach walls and/or corrosion. of the same, resulting in the appearance of wounds and consequent gastritis or ulcers, respectively.
Among patients with gastritis and/or ulcers, one of the dilemmas is associated with the foods to consume in order to minimize the sensation of pain and discomfort. 5 Effective Homeopathic Medicines for Irregular Periods
Discover the benefits of homeopathic medicine for irregular periods with our guide on 5 common remedies. Learn how these natural treatments can help regulate menstrual cycles and improve overall menstrual health.
Visit Us: https://drdeepikashomeopathy.com/service/irregular-periods-treatment/
Medical Quiz ( Online Quiz for API Meet 2024 ).pdf
This quiz was conducted as a promotional event for the 2024 Annual Meet of Kerala Chapter of API.
More than 20 participants took part everyday !
How to Control Your Asthma Tips by gokuldas hospital.
Respiratory issues like asthma are the most sensitive issue that is affecting millions worldwide. It hampers the daily activities leaving the body tired and breathless.
The key to a good grip on asthma is proper knowledge and management strategies. Understanding the patient-specific symptoms and carving out an effective treatment likewise is the best way to keep asthma under control.
Computer in pharmaceutical research and development-Mpharm(Pharmaceutics)
Statistics- Statistics is the science of collecting, organizing, presenting, analyzing and interpreting numerical data to assist in making more effective decisions.
A statistics is a measure which is used to estimate the population parameter
Parameters-It is used to describe the properties of an entire population.
Examples-Measures of central tendency Dispersion, Variance, Standard Deviation (SD), Absolute Error, Mean Absolute Error (MAE), Eigen Value
NAVIGATING THE HORIZONS OF TIME LAPSE EMBRYO MONITORING.pdf
Time-lapse embryo monitoring is an advanced imaging technique used in IVF to continuously observe embryo development. It captures high-resolution images at regular intervals, allowing embryologists to select the most viable embryos for transfer based on detailed growth patterns. This technology enhances embryo selection, potentially increasing pregnancy success rates.
Patellar Instability: Diagnosis Management
Pictorial and detailed description of patellar instability with sign and symptoms and how to diagnose , what investigations you should go with and how to approach with treatment options . I have presented this slide in my 2nd year junior residency in orthopedics at LLRM medical college Meerut and got good reviews for it
After getting it read you will definitely understand the topic.
Histololgy of Female Reproductive System.pptx
Dive into an in-depth exploration of the histological structure of female reproductive system with this comprehensive lecture. Presented by Dr. Ayesha Irfan, Assistant Professor of Anatomy, this presentation covers the Gross anatomy and functional histology of the female reproductive organs. Ideal for students, educators, and anyone interested in medical science, this lecture provides clear explanations, detailed diagrams, and valuable insights into female reproductive system. Enhance your knowledge and understanding of this essential aspect of human biology.
Pharmacology of 5-hydroxytryptamine and Antagonist
5-hydroxytryptamine or 5-HT or Serotonin is a neurotransmitter that serves a range of roles in the human body. It is sometimes referred to as the happy chemical since it promotes overall well-being and happiness.
It is mostly found in the brain, intestines, and blood platelets.
5-HT is utilised to transport messages between nerve cells, is known to be involved in smooth muscle contraction, and adds to overall well-being and pleasure, among other benefits. 5-HT regulates the body's sleep-wake cycles and internal clock by acting as a precursor to melatonin.
It is hypothesised to regulate hunger, emotions, motor, cognitive, and autonomic processes.
Acute Gout Care & Urate Lowering Therapy .pdf
In this document , the management of acute gout attacks and a description of urate lowering therapy is mentioned.
Skin Diseases That Happen During Summer.
Summer is a time for fun in the sun, but the heat and humidity can also wreak havoc on your skin. From itchy rashes to unwanted pigmentation, several skin conditions become more prevalent during these warmer months.
Travel Clinic Cardiff: Health Advice for International Travelers
Travel Clinic Cardiff offers comprehensive travel health services, including vaccinations, travel advice, and preventive care for international travelers. Our expert team ensures you are well-prepared and protected for your journey, providing personalized consultations tailored to your destination. Conveniently located in Cardiff, we help you travel with confidence and peace of mind. Visit us: www.nxhealthcare.co.uk
What are the different types of Dental implants.
Are you looking for a long-lasting solution to your missing tooth?
Dental implants are the most common type of method for replacing the missing tooth. Unlike dentures or bridges, implants are surgically placed in the jawbone. In layman’s terms, a dental implant is similar to the natural root of the tooth. It offers a stable foundation for the artificial tooth giving it the look, feel, and function similar to the natural tooth.
Artificial Intelligence Symposium (THAIS)
Artificial Intelligence Symposium (THAIS). Parc Taulí. Sabadell
Full Handwritten notes of RA by Ayush Kumar M pharm - Al ameen college of pha...
Full Handwritten notes of RA by Ayush Kumar M pharm - Al ameen college of pha...ayushrajshrivastava7
Regulatory Affairs
Full hand written notes
M.pharm - 1st year .Recently uploaded (20)
Post-Menstrual Smell- When to Suspect Vaginitis.pptx
Post-Menstrual Smell- When to Suspect Vaginitis.pptx
Osvaldo Bernardo Muchanga-GASTROINTESTINAL INFECTIONS AND GASTRITIS-2024.pdf
Osvaldo Bernardo Muchanga-GASTROINTESTINAL INFECTIONS AND GASTRITIS-2024.pdf
5 Effective Homeopathic Medicines for Irregular Periods
5 Effective Homeopathic Medicines for Irregular Periods
Medical Quiz ( Online Quiz for API Meet 2024 ).pdf
Medical Quiz ( Online Quiz for API Meet 2024 ).pdf
How to Control Your Asthma Tips by gokuldas hospital.
How to Control Your Asthma Tips by gokuldas hospital.
Computer in pharmaceutical research and development-Mpharm(Pharmaceutics)
Computer in pharmaceutical research and development-Mpharm(Pharmaceutics)
NAVIGATING THE HORIZONS OF TIME LAPSE EMBRYO MONITORING.pdf
NAVIGATING THE HORIZONS OF TIME LAPSE EMBRYO MONITORING.pdf
Pharmacology of 5-hydroxytryptamine and Antagonist
Pharmacology of 5-hydroxytryptamine and Antagonist
Tele Optometry (kunj'sppt) / Basics of tele optometry.
Tele Optometry (kunj'sppt) / Basics of tele optometry.
Travel Clinic Cardiff: Health Advice for International Travelers
Travel Clinic Cardiff: Health Advice for International Travelers
Full Handwritten notes of RA by Ayush Kumar M pharm - Al ameen college of pha...
Full Handwritten notes of RA by Ayush Kumar M pharm - Al ameen college of pha...
BDSRA 2015 CLN2 Whiting, Tracy, Katz
- 1. Neurodegenerative Diseases Research Laboratory: Late Infantile Batten Disease Rebecca Whiting, Christopher Tracy, Martin Katz; University of Missouri, School of Medicine, Columbia, MO 65202 http://medicine.missouri.edu/neurodegenerativediseases/ THREE APPROACHES TO THERAPEUTIC ENZYME DELIVERY WHAT THIS MEANS FOR THERAPY We use a Dachshund model of CLN2 We grow the cells and tell them to produce lots of TPP1 enzyme through genetic modification Enzyme Replacement Therapy delivers the enzyme to the brain with an infusion every 2 weeks We are testing 3 methods for delivering TPP1 enzyme to the brain and eye Funding: BioMarin Pharmaceutical Inc., Children‘s Hospital of Philadelphia, University of Missouri, National Institutes of Health, Knights Templar Eye Foundation. INTRODUCTION (Laboratory Objectives) CLN2 disease is caused by a lack of TPP1 enzyme Supplying the enzyme to the brain delays symptom progression Our laboratory is working to optimize long-term delivery of the enzyme to the brain and eye Direct Gene Therapy gives existing cells in the brain instructions to make the enzyme Ex Vivo Gene Therapy uses stem cells as tiny enzyme factories to produce TPP1 long term 1 3 Enzyme replacement therapy offers an effective treatment for CLN2, but requires on- going infusion of the enzyme every 2 weeks In the dog model, Ex vivo and direct gene therapies have shown long term therapeutic benefits with a single treatment. We are making progress toward a one-time curative treatment for CLN2. take cells from the bone marrow Modify the cells to produce TPP1 Inject the cells into the eye or brain where they continue to produce TPP1 2 BioMarin BMN190 preliminary data from Phase 1/2 clinical trial http://investors.bmrn.com/releasedetail.cfm?ReleaseID=890846 0 0.5 1 1.5 2 2.5 3 2 3 4 5 6 7 8 9 10 11 ResponseofRetina toLightFlash Age (Months) Normal CLN2, Untreated CLN2, Ex Vivo Gene Therapy Acknowledgements: Our thanks to collaborators on these projects including BioMarin Pharmaceutical, Joan Coates, Beverly Davidson, Jacqueline Pearce, Fred Wininger, and Jeffrey Bryan; to the Veterinary Postdocs Baye Williamson, Whitney Young, Missy Carpentier, Christy Sibigtroth, Camille Fluornoy, and Shin Kanazono; to Lani Castaner for assistance with all aspects of the project and to the many students and dogs who made essential contributions to these studies.