There have often been trained scientists here.
One I love to remember is: lightnlife, Lauren Beyenhoff's user name.
Lauren was a scientist who wrote some great articles for us.
One I highlight today was written in May of 2008, when she interviewed Francis Collins, the director of the National Institutes of Health in Bethesda, Maryland. This interview may mean even more today as these drugs pass into our reality.
I imagine she is smiling down on the whole CF community these days from her very special perch in heaven!
Straight from the Source: Dr. Francis Collins Talks About the Latest Information on Pharmacogenetics
The cystic fibrosis transmembrane conductance regulator (CFTR), is the faulty gene that results in a person being born with cystic fibrosis. The gene itself is responsible for directing the transport of chloride and bicarbonate, both of which are salts, across the cell’s membrane. The CFTR gene was first identified in 1989 by Drs. John R. Riordan, Lap Chee Tsui, and Francis Collins. Since that time there have been several developments in the arena of gene therapy and stem cell research. More promising and more practical, and perhaps less politically charged, are the breakthroughs in the emerging field of pharmacogenetics.
Pharmacogenetics in Progress
Pharmacogenetics is a term that describes the practice of developing clinical trials for drug therapies to be used for a specific population of people having a particular genetic predisposition to a condition or disease. This is particularly useful when developing new drugs for the treatment of cystic fibrosis.
In order to receive the greatest potential benefit from such mutation specific therapies, cystic fibrosis patients should attempt to have the most comprehensive genetic testing performed. Most basic genetic screenings, such as those done as part of mandatory newborn screening for cystic fibrosis, only test for the most common mutations. There are thousands of mutations possible. “Getting tested for your specific gene typing can make a difference in the future of your treatment,” urges Dr. Collins. “Knowing your mutations can save you and your doctor from wasting time on therapies that may not be targeted to your mutations.”
Current Drug Development
The Cystic Fibrosis Foundation is the largest private funding source for the development of drugs targeted at cystic fibrosis. The Foundation continually updates their drug development pipeline with the latest information in the fight for a cure for cystic fibrosis. One of the most promising aspects of pharmacogenetics is the clinical trials of VX-770. VX-770, an investigational oral potentiator developed by Vertex Pharmaceuticals of San Diego. VX-770 is designed to act directly on the malfunctioning CFTR protein to help restore the balance of salt and water. This treatment is designed to work on a subset of CF patients who have a specific type of CFTR mutation known as G551D. Approximately 4 percent of cystic fibrosis patients have that mutation. Pending the success of VX-770, Vertex and other pharmas may elect to investigate other mutation-specific therapies.
Another developing therapy is PTC124. PTC124 is a novel, orally administered small-molecule compound that targets a particular genetic alteration known as a nonsense mutation. 10% of the cases of cystic fibrosis are due to nonsense mutations. PTC124, like VX-770 is a protein assist/repair therapy. The Cystic Fibrosis Foundation states that “this therapy is designed to correct the function of the defective CFTR protein made by the CF gene to allow chloride and sodium (salt) to move properly in cells lining the lungs and other organs.” Clinical trials for PTC124 are just beginning to enter Phase 3 and the final drug may be available to patients before VX-770.
How is this Pharmacogenetics Different from Gene Therapy?
The different between gene therapy and pharmacogenetics is that gene therapy works by replacing the defective gene with one that functions correctly. Once the new gene is in place, it is expected to replicate itself. Pharmacogenetics acts instead by adding or replacing a new, corrected enzyme where one is missing or malfunctioning. The difference is that in pharmacogenetics, the therapy addresses the symptom of the biological error, instead of attempting to grow something new on the cellular level. Think of pharmacogenetics as applying herbicide to your lawn to eradicate weeds rather than ripping out the whole lawn and replacing it with new sod.
Pathway to a Cure?
Are all these new therapies just a “dangling carrot” to families and cystic fibrosis patients who eagerly await a cure? Dr. Francis Collins says “not necessarily.” He does mention however, that researchers are often so excited about their discoveries that they tend to underestimate how long it will take them to reach the next step. According to Dr. Collins, “[Researchers] often say a cure will be found in 10 years, because that’s feasible, assuming that research can maintain its momentum.” Unfortunately, it’s not always a smooth process from one breakthrough to the next. As head of the National Genome Project Dr. Collins experienced his own frustrations regarding identifying the gene that causes cystic fibrosis. “In the laboratory we’d find something that seemed so close. We’d hold our breaths, hoping that we were on the right track.” Inevitably, he and his team would learn that somewhere in another lab on the other side of the country, other research teams had followed the same path and it lead to a dead end. “So we started again with another route.” He compares the search for the gene that causes cystic fibrosis to looking for a needle in a haystack.
Despite setbacks and frustrations, Dr. Collins and his team made incredible breakthroughs for the cystic fibrosis community. By discovering the CFTR protein, his team ushered in a new era of life-prolonging therapies for a disease that previously claimed nearly all its victims in early childhood. There is still far more to be done, and many more mile markers to pass as scientists and doctors traverse that pathway to a cure. Like so many who are involved in cystic fibrosis research or treatment, Dr. Collins has “guarded optimism” about the future. Still, he is among the thousands who dare to dream that one day CF will be cured.
http://www.cysticfibrosis.com/cftube/categories.cfm?catid=6&idvideo=123
One I love to remember is: lightnlife, Lauren Beyenhoff's user name.
Lauren was a scientist who wrote some great articles for us.
One I highlight today was written in May of 2008, when she interviewed Francis Collins, the director of the National Institutes of Health in Bethesda, Maryland. This interview may mean even more today as these drugs pass into our reality.
I imagine she is smiling down on the whole CF community these days from her very special perch in heaven!
Straight from the Source: Dr. Francis Collins Talks About the Latest Information on Pharmacogenetics
The cystic fibrosis transmembrane conductance regulator (CFTR), is the faulty gene that results in a person being born with cystic fibrosis. The gene itself is responsible for directing the transport of chloride and bicarbonate, both of which are salts, across the cell’s membrane. The CFTR gene was first identified in 1989 by Drs. John R. Riordan, Lap Chee Tsui, and Francis Collins. Since that time there have been several developments in the arena of gene therapy and stem cell research. More promising and more practical, and perhaps less politically charged, are the breakthroughs in the emerging field of pharmacogenetics.
Pharmacogenetics in Progress
Pharmacogenetics is a term that describes the practice of developing clinical trials for drug therapies to be used for a specific population of people having a particular genetic predisposition to a condition or disease. This is particularly useful when developing new drugs for the treatment of cystic fibrosis.
In order to receive the greatest potential benefit from such mutation specific therapies, cystic fibrosis patients should attempt to have the most comprehensive genetic testing performed. Most basic genetic screenings, such as those done as part of mandatory newborn screening for cystic fibrosis, only test for the most common mutations. There are thousands of mutations possible. “Getting tested for your specific gene typing can make a difference in the future of your treatment,” urges Dr. Collins. “Knowing your mutations can save you and your doctor from wasting time on therapies that may not be targeted to your mutations.”
Current Drug Development
The Cystic Fibrosis Foundation is the largest private funding source for the development of drugs targeted at cystic fibrosis. The Foundation continually updates their drug development pipeline with the latest information in the fight for a cure for cystic fibrosis. One of the most promising aspects of pharmacogenetics is the clinical trials of VX-770. VX-770, an investigational oral potentiator developed by Vertex Pharmaceuticals of San Diego. VX-770 is designed to act directly on the malfunctioning CFTR protein to help restore the balance of salt and water. This treatment is designed to work on a subset of CF patients who have a specific type of CFTR mutation known as G551D. Approximately 4 percent of cystic fibrosis patients have that mutation. Pending the success of VX-770, Vertex and other pharmas may elect to investigate other mutation-specific therapies.
Another developing therapy is PTC124. PTC124 is a novel, orally administered small-molecule compound that targets a particular genetic alteration known as a nonsense mutation. 10% of the cases of cystic fibrosis are due to nonsense mutations. PTC124, like VX-770 is a protein assist/repair therapy. The Cystic Fibrosis Foundation states that “this therapy is designed to correct the function of the defective CFTR protein made by the CF gene to allow chloride and sodium (salt) to move properly in cells lining the lungs and other organs.” Clinical trials for PTC124 are just beginning to enter Phase 3 and the final drug may be available to patients before VX-770.
How is this Pharmacogenetics Different from Gene Therapy?
The different between gene therapy and pharmacogenetics is that gene therapy works by replacing the defective gene with one that functions correctly. Once the new gene is in place, it is expected to replicate itself. Pharmacogenetics acts instead by adding or replacing a new, corrected enzyme where one is missing or malfunctioning. The difference is that in pharmacogenetics, the therapy addresses the symptom of the biological error, instead of attempting to grow something new on the cellular level. Think of pharmacogenetics as applying herbicide to your lawn to eradicate weeds rather than ripping out the whole lawn and replacing it with new sod.
Pathway to a Cure?
Are all these new therapies just a “dangling carrot” to families and cystic fibrosis patients who eagerly await a cure? Dr. Francis Collins says “not necessarily.” He does mention however, that researchers are often so excited about their discoveries that they tend to underestimate how long it will take them to reach the next step. According to Dr. Collins, “[Researchers] often say a cure will be found in 10 years, because that’s feasible, assuming that research can maintain its momentum.” Unfortunately, it’s not always a smooth process from one breakthrough to the next. As head of the National Genome Project Dr. Collins experienced his own frustrations regarding identifying the gene that causes cystic fibrosis. “In the laboratory we’d find something that seemed so close. We’d hold our breaths, hoping that we were on the right track.” Inevitably, he and his team would learn that somewhere in another lab on the other side of the country, other research teams had followed the same path and it lead to a dead end. “So we started again with another route.” He compares the search for the gene that causes cystic fibrosis to looking for a needle in a haystack.
Despite setbacks and frustrations, Dr. Collins and his team made incredible breakthroughs for the cystic fibrosis community. By discovering the CFTR protein, his team ushered in a new era of life-prolonging therapies for a disease that previously claimed nearly all its victims in early childhood. There is still far more to be done, and many more mile markers to pass as scientists and doctors traverse that pathway to a cure. Like so many who are involved in cystic fibrosis research or treatment, Dr. Collins has “guarded optimism” about the future. Still, he is among the thousands who dare to dream that one day CF will be cured.
http://www.cysticfibrosis.com/cftube/categories.cfm?catid=6&idvideo=123
I also think about her every time I see a cute bunny! lol. I was just thinking about Brad the other day too. Last I heard he had remarried and was doing well.