A British couple have spoken of their heartbreak at having had three young sons diagnosed with the same rare terminal genetic condition. Scott and Nicola Smith, from Eyres Monsell, Leicester, have spoken to the press about discovering their sons' incurable brain disorder. Eight-year old Connor, six-year old Callum, and five-year old Jack all have a condition called adrenoleukodystrophy (ALD), sometimes also called Schilder's Disease. The condition, which affects one in every 20,000 boys, attacks the brain and central nervous system, and most of those affected will die before they reach adulthood. Sufferers are unable to produce an enzyme that breaks down saturated, fatty acids in the brain, causing these to accumulate. Eventually, sufferers lose their sight, hearing and the ability to walk or talk. Current treatments include bone marrow transplants and a dietary fat known as Lorenzo's Oil, also the name of a feature film about a boy suffering from ALD. The film tells the real-life story of Augusto Odone, who developed the oil as a treatment for his son, Lorenzo.
Mrs Smith recently found out that she was a carrier for ALD. The disease is caused by a genetic abnormality involving the X chromosome and is carried by about one in 14,000 women. But by then, she said that she and her husband Scott had already started to see the signs in Callum. Callum was the first to be diagnosed, only last month and, following tests on the other boys, it was discovered that they both were also affected. 'We can't believe this is happening', said Mrs Smith, adding 'it's a nightmare'. She went on to say that 'we always knew there was a chance Connor and Jack would have it, but we prayed and hoped they would escape it'. At present, all three boys appear normal, but doctors say Callum is already showing signs of brain damage.
Dr Jayaprakash Gosalakkal, the consultant paediatric neurologist treating the brothers at Leicester Royal Infirmary, said that it is almost unheard of to have three sufferers of ALD in one family. The only other case where the disease affected more than two boys in the same family was in China where four siblings were diagnosed with the condition, he said. He added that doctors 'are exploring the possibility of bone marrow transplants and also the possibility of stem cell treatment. The investigation is still in its very early stages'. 'I really didn't know how to break it to the mother', he said, adding 'I saw their reaction when I told them about the first son, Callum. Telling them was one of the most awful things I have ever had to do'.
Sunday, January 13, 2008
Saturday, January 12, 2008
Placenta Previa linked to ART
Researchers at St Olav's University Hospital in Trondheim, Norway, have discovered a link between assisted reproduction and an increased risk of placenta previa - a dangerous complication of pregnancy where the placenta covers all or part of the cervix. The condition normally affects around three in 1000 births, but with a single IVF or ICSI (intracytoplasmic sperm injection) conception the risk raises to 16 in 1000. The researchers also examined women who had one pregnancy conceived naturally and one conceived using assisted reproduction (ART), in this case the risk rose from around seven in 1000 for two natural conceptions to 20 in 1000 for one ART and one natural; it did not make a difference which pregnancy was through assisted reproduction. This helps to rule out the possibility that there was some maternal factor in the single ART pregnancies which could cloud the findings.
The study, published in Human Reproduction, looked at more than 845,000 cases between 1988 and 2002, and was designed to correct for factors such as maternal age. The underlying reasons for the increased risk are not clear although the team postulate that the position in which the embryos are placed into the womb in ART may be a factor. There is research that suggests conception rates are higher when the embryo is inserted lower down in the uterus - this is also thought to reduce the risk of ectopic pregnancy. The team are now calling on fertility clinics to record this extra data. Dr Liv Bente Romundstad, leader of the study, said 'we now routinely do this, but we need other centres worldwide to do this as well'. She added: 'Although the risk of placenta previa is considerably higher with ART it is still quite rare, which means it will probably take several thousand pregnancies to get sufficient data to be able to make any definite recommendations about clinical practice'.
In the paper the researchers suggest that assisted reproduction techniques may induce uterine contractions after stimulation of the cervix, this may then lead to more embryos implanting low-down. If the placenta covers the whole of the cervix then the baby must be delivered by caesarean section. There is also an increased risk of bleeding or hemorrhage as the placenta is stretched during the final stages of pregnancy.
Dr Romundstad said that 'regardless of whether it was the first or second pregnancy that was conceived through assisted reproductive technology, we found a nearly threefold higher risk of placenta previa', adding that 'this suggests a substantial proportion of the extra risk may be attributable directly to factors relating to the reproduction technology'. In the light of the findings, Dr Mark Hamilton, chairman of the British Fertility Society, said that 'patients who are considering IVF treatment should discuss concerns with their gynecologist in advance of treatment and those who are pregnant might want to discuss this with their obstetrician'.
The study, published in Human Reproduction, looked at more than 845,000 cases between 1988 and 2002, and was designed to correct for factors such as maternal age. The underlying reasons for the increased risk are not clear although the team postulate that the position in which the embryos are placed into the womb in ART may be a factor. There is research that suggests conception rates are higher when the embryo is inserted lower down in the uterus - this is also thought to reduce the risk of ectopic pregnancy. The team are now calling on fertility clinics to record this extra data. Dr Liv Bente Romundstad, leader of the study, said 'we now routinely do this, but we need other centres worldwide to do this as well'. She added: 'Although the risk of placenta previa is considerably higher with ART it is still quite rare, which means it will probably take several thousand pregnancies to get sufficient data to be able to make any definite recommendations about clinical practice'.
In the paper the researchers suggest that assisted reproduction techniques may induce uterine contractions after stimulation of the cervix, this may then lead to more embryos implanting low-down. If the placenta covers the whole of the cervix then the baby must be delivered by caesarean section. There is also an increased risk of bleeding or hemorrhage as the placenta is stretched during the final stages of pregnancy.
Dr Romundstad said that 'regardless of whether it was the first or second pregnancy that was conceived through assisted reproductive technology, we found a nearly threefold higher risk of placenta previa', adding that 'this suggests a substantial proportion of the extra risk may be attributable directly to factors relating to the reproduction technology'. In the light of the findings, Dr Mark Hamilton, chairman of the British Fertility Society, said that 'patients who are considering IVF treatment should discuss concerns with their gynecologist in advance of treatment and those who are pregnant might want to discuss this with their obstetrician'.
Friday, January 11, 2008
Uphill Metro
Here is something you don’t see everyday (unless you live in Israel of course). In the city of Haifa in Israel you can find the only subway system in Israel - and it’s a pretty complicated one since it is capable of going uphill. I like it maybe because I live a sheltered life but I’ve never been more surprised by a public transport system than when I came across this little beauty. It’s called the Carmelit, it runs underground in the citry of Haifa, Israel and it’s the country’s only subway system. Due to the city being located on the side of Mount Carmel, the entire single track ‘funicular’ system has been designed to accommodate the incline, hence the strange stepped stations and diagonal trains. I’m told they’re more common at ski resorts which would maybe explain why I’ve never seen one before.
Either way, it’s quirky and it’s brilliant.
Because much of Haifa is built on top of the Mt Carmel, the Carmelit (named after this mountain) is an underground funicular that goes up and down the mountain. The altitude difference between the first and last stations is 274 meters.) Carmelit cars have a slanted design, with steps within each car and on the station platform. Since the gradient varies along the route, the floor of each car is never quite level, and slopes slightly "uphill" or "downhill" depending on the location. The Carmelit is one of the smallest subways in the world, having only four cars, six stations and a single tunnel 1800 meters long. The four cars operate as two two-car trains, which run on single track with a short double-track section to allow trains to cross.
It is not the smallest subway in the world - the Istanbul Tünel, with two stations and 573 meters long, is smaller. However, since Istanbul also has a newer and bigger (though separate) subway system, the Carmelit is the smallest subway system in the world.
Thursday, January 10, 2008
Human embryos successfully cloned from skin cells, cloned babies next?
Stem cell research, whether you agree with it or not, looks to have taken another step forward recently. A company called Stemagen out of La Jolla, California has “created the first mature cloned human embryos from single skin cells taken from adults, a significant advance toward the goal of growing personalized stem cells for patients suffering from various diseases,” reports the Washington Post. Stemagen’s chief executive Samuel H. Wood isn’t interested in — and is, in fact, opposed to — cloning human beings. “It’s unethical and it’s illegal, and we hope no one else does it either,” says Wood, noting that his companies goal is solely to help with diseases and patient-specific medicine.
Stemagen’s process involves creating an embryonic, genetic twin of a patient and then extracting replacement tissue from the embryo’s stem cells. The transplanted tissue wouldn’t be rejected by the patient’s body because the body would genetically see the tissue as its own. Making the cloned embryo looks to be a relatively simple process with about a 25 percent success rate.
“In the new work, the team took skin cells — some from Wood’s arm and some from an anonymous Stemagen investor — and fused them to eggs from women who were donating their eggs to help infertile women. About one-quarter of the resulting clones, or five in all, developed into five-day-old blastocysts.”
These new developments, according to the Washington Post, offer “sobering evidence that few, if any, technical barriers may remain to the creation of cloned babies.”
Stemagen’s process involves creating an embryonic, genetic twin of a patient and then extracting replacement tissue from the embryo’s stem cells. The transplanted tissue wouldn’t be rejected by the patient’s body because the body would genetically see the tissue as its own. Making the cloned embryo looks to be a relatively simple process with about a 25 percent success rate.
“In the new work, the team took skin cells — some from Wood’s arm and some from an anonymous Stemagen investor — and fused them to eggs from women who were donating their eggs to help infertile women. About one-quarter of the resulting clones, or five in all, developed into five-day-old blastocysts.”
These new developments, according to the Washington Post, offer “sobering evidence that few, if any, technical barriers may remain to the creation of cloned babies.”
Wednesday, January 9, 2008
Thought provoking article by a Pakistani Writer
Capital suggestion
By Dr Farrukh Saleem
12/9/2007
Twenty-five thousand years ago, haplogroup R2 characterized by genetic marker M124 arose in southern Central Asia. Then began a major wave of human migration whereby members migrated southward to present-day India and Pakistan (Genographic Project by the National Geographic Society; http://www.nationalgeographiccom/). Indians and Pakistanis have the same ancestry and share the same DNA sequence.
Here's what is happening in India:
The two Ambani brothers can buy 100 percent of every company listed on the Karachi Stock Exchange (KSE) and would still be left with $30 billion to spare. The four richest Indians can buy up all goods and services produced over a year by 169 million Pakistanis and still be left with $60 billion to spare. The four richest Indians are now richer than the forty richest Chinese.
In November, Bombay Stock Exchange's benchmark Sensex flirted with 20,000 points. As a consequence, Mukesh Ambani's Reliance Industries became a $100 billion company (the entire KSE is capitalized at $65 billion). Mukesh owns 48 percent of Reliance.
In November, comes Neeta's birthday. Neeta turned forty-four three weeks ago. Look what she got from her husband as her birthday present: A sixty-million dollar jet with a custom fitted master bedroom, bathroom with mood lighting, a sky bar, entertainment cabins, satellite television, wireless communication and a separate cabin with game consoles. Neeta is Mukesh Ambani's wife, and Mukesh is not India's richest but the second richest.
Mukesh is now building his new home, Residence Antillia (after a mythical, phantom island somewhere in the Atlantic Ocean). At a cost of $1 billion this would be the most expensive home on the face of the planet. At 173 meters tall Mukesh's new family residence, for a family of six, will be the equivalent of a 60-storeyed building. The first six floors are reserved for parking. The seventh floor is for car servicing and maintenance. The eighth floor houses a mini-theatre. Then there's a health club, a gym and a swimming pool. Two floors are reserved for Ambani family's guests. Four floors above the guest floors are family floors all with a superb view of the Arabian Sea. On top of everything are three helipads. A staff of 600 is expected to care for the family and their family home.
In 2004, India became the 3rd most attractive foreign direct investment destination. Pakistan wasn't even in the top 25 countries. In 2004, the United Nations, the representative body of 192 sovereign member states, had requested the Election Commission of India to assist the UN in the holding elections in Al Jumhuriyah al Iraqiyah and Dowlat-e Eslami-ye Afghanestan. Why the Election Commission of India and not the Election Commission of Pakistan? After all, Islamabad is closer to Kabul than is Delhi.
Imagine, 12 percent of all American scientists are of Indian origin; 38 percent of doctors in America are Indian; 36 percent of NASA scientists are Indians; 34 percent of Microsoft employees are Indians; and 28 percent of IBM employees are Indians.
For the record: Sabeer Bhatia created and founded Hotmail. Sun Microsystems was founded by Vinod Khosla. The Intel Pentium processor, that runs 90 percent of all computers, was fathered by Vinod Dham. Rajiv Gupta co-invented Hewlett Packard's E-speak project. Four out of ten Silicon Valley start-ups are run by Indians. Bollywood produces 800 movies per year and six Indian ladies have won Miss Universe/Miss World titles over the past 10 years.
For the record: Azim Premji, the richest Muslim entrepreneur on the face of the planet, was born in Bombay and now lives in Bangalore.India now has more than three dozen billionaires; Pakistan has none (not a single dollar billionaire).
The other amazing aspect is the rapid pace at which India is creating wealth. In 2002, Dhirubhai Ambani, Mukesh and Anil Ambani's father, left his two sons a fortune worth $2.8 billion. In 2007, their combined wealth stood at $94 billion. On 29 October 2007, as a result of the stock market rally and the appreciation of the Indian rupee, Mukesh became the richest person in the world, with net worth climbing to US$63.2 billion (Bill Gates, the richest American, stands at around $56 billion).
Indians and Pakistanis have the same Y-chromosome haplogroup. We have the same genetic sequence and the same genetic marker (namely: M124). We have the same DNA molecule, the same DNA sequence. Our culture, our traditions and our cuisine are all the same. We watch the same movies and sing the same songs. What is it that Indians have and we don't?
Indians elect their leaders.
By Dr Farrukh Saleem
12/9/2007
Twenty-five thousand years ago, haplogroup R2 characterized by genetic marker M124 arose in southern Central Asia. Then began a major wave of human migration whereby members migrated southward to present-day India and Pakistan (Genographic Project by the National Geographic Society; http://www.nationalgeographiccom/). Indians and Pakistanis have the same ancestry and share the same DNA sequence.
Here's what is happening in India:
The two Ambani brothers can buy 100 percent of every company listed on the Karachi Stock Exchange (KSE) and would still be left with $30 billion to spare. The four richest Indians can buy up all goods and services produced over a year by 169 million Pakistanis and still be left with $60 billion to spare. The four richest Indians are now richer than the forty richest Chinese.
In November, Bombay Stock Exchange's benchmark Sensex flirted with 20,000 points. As a consequence, Mukesh Ambani's Reliance Industries became a $100 billion company (the entire KSE is capitalized at $65 billion). Mukesh owns 48 percent of Reliance.
In November, comes Neeta's birthday. Neeta turned forty-four three weeks ago. Look what she got from her husband as her birthday present: A sixty-million dollar jet with a custom fitted master bedroom, bathroom with mood lighting, a sky bar, entertainment cabins, satellite television, wireless communication and a separate cabin with game consoles. Neeta is Mukesh Ambani's wife, and Mukesh is not India's richest but the second richest.
Mukesh is now building his new home, Residence Antillia (after a mythical, phantom island somewhere in the Atlantic Ocean). At a cost of $1 billion this would be the most expensive home on the face of the planet. At 173 meters tall Mukesh's new family residence, for a family of six, will be the equivalent of a 60-storeyed building. The first six floors are reserved for parking. The seventh floor is for car servicing and maintenance. The eighth floor houses a mini-theatre. Then there's a health club, a gym and a swimming pool. Two floors are reserved for Ambani family's guests. Four floors above the guest floors are family floors all with a superb view of the Arabian Sea. On top of everything are three helipads. A staff of 600 is expected to care for the family and their family home.
In 2004, India became the 3rd most attractive foreign direct investment destination. Pakistan wasn't even in the top 25 countries. In 2004, the United Nations, the representative body of 192 sovereign member states, had requested the Election Commission of India to assist the UN in the holding elections in Al Jumhuriyah al Iraqiyah and Dowlat-e Eslami-ye Afghanestan. Why the Election Commission of India and not the Election Commission of Pakistan? After all, Islamabad is closer to Kabul than is Delhi.
Imagine, 12 percent of all American scientists are of Indian origin; 38 percent of doctors in America are Indian; 36 percent of NASA scientists are Indians; 34 percent of Microsoft employees are Indians; and 28 percent of IBM employees are Indians.
For the record: Sabeer Bhatia created and founded Hotmail. Sun Microsystems was founded by Vinod Khosla. The Intel Pentium processor, that runs 90 percent of all computers, was fathered by Vinod Dham. Rajiv Gupta co-invented Hewlett Packard's E-speak project. Four out of ten Silicon Valley start-ups are run by Indians. Bollywood produces 800 movies per year and six Indian ladies have won Miss Universe/Miss World titles over the past 10 years.
For the record: Azim Premji, the richest Muslim entrepreneur on the face of the planet, was born in Bombay and now lives in Bangalore.India now has more than three dozen billionaires; Pakistan has none (not a single dollar billionaire).
The other amazing aspect is the rapid pace at which India is creating wealth. In 2002, Dhirubhai Ambani, Mukesh and Anil Ambani's father, left his two sons a fortune worth $2.8 billion. In 2007, their combined wealth stood at $94 billion. On 29 October 2007, as a result of the stock market rally and the appreciation of the Indian rupee, Mukesh became the richest person in the world, with net worth climbing to US$63.2 billion (Bill Gates, the richest American, stands at around $56 billion).
Indians and Pakistanis have the same Y-chromosome haplogroup. We have the same genetic sequence and the same genetic marker (namely: M124). We have the same DNA molecule, the same DNA sequence. Our culture, our traditions and our cuisine are all the same. We watch the same movies and sing the same songs. What is it that Indians have and we don't?
Indians elect their leaders.
Tuesday, January 8, 2008
Reprogrammed Stem Cell Treatments Within Reach
The Japanese scientist whose team was responsible for the breakthrough that enabled human skin cells to be reprogrammed to behave like stem cells, Shinya Yamanaka from Kyoto University, has estimated that stem cell treatments for some diseases could be as little as a decade away. Stem cells have the ability to turn into any of the 220 different cell types found within the body, and therefore it is hoped they will play a crucial role in treating and curing illnesses by replacing damaged cells.
Yamanaka's team's work has been significant primarily because it avoids the need to use viable embryos to create stem cells, which is ethically problematic for many people. The cells created by Mr Yamanaka's team, called induced pluripotent stem
cells (iPS), take three months to create. Therefore, Mr Yamanaka has recommended that an iPS cell bank be created to shorten the time it would take to develop a tailor-made treatment. Mr Yamanaka commented 'by making such a bank, we can cut the cost of treatment and also we can shorten the period which is required for the generation of iPS cells'. However, there are still problems with the use of iPS cells, which means that many research laboratories are still pressing ahead with embryonic stem
(ES) cell research. Kevin Eggan, a stem cell biologist at Harvard University, has warned that because iPS cells are genetically changed they may not be safe. Therefore, until they have been deemed risk-free for clinical trials, Eggan predicts that the demand for ES cells will remain, and that they will still be a better option than the reprogrammed cells, despite the ethical objections. Richard Murphy, president of the California Institute for Regenerative Medicine, also considers ES cells to be the 'gold standard' in research.
Meanwhile, Yamanaka also reported that other laboratories in the US and Japan were now also producing iPS cells, and maintained their potential for patients awaiting treatment. 'All you need is basic technology, cell biology, you don't need special technology or equipments', said Yamanaka, who also emphasised the increasing competition in this area of research
since his discovery of iPS cells last November. He estimated that while stem cell treatments might be available for some diseases within a decade, others could take considerably longer.
Yamanaka's team's work has been significant primarily because it avoids the need to use viable embryos to create stem cells, which is ethically problematic for many people. The cells created by Mr Yamanaka's team, called induced pluripotent stem
cells (iPS), take three months to create. Therefore, Mr Yamanaka has recommended that an iPS cell bank be created to shorten the time it would take to develop a tailor-made treatment. Mr Yamanaka commented 'by making such a bank, we can cut the cost of treatment and also we can shorten the period which is required for the generation of iPS cells'. However, there are still problems with the use of iPS cells, which means that many research laboratories are still pressing ahead with embryonic stem
(ES) cell research. Kevin Eggan, a stem cell biologist at Harvard University, has warned that because iPS cells are genetically changed they may not be safe. Therefore, until they have been deemed risk-free for clinical trials, Eggan predicts that the demand for ES cells will remain, and that they will still be a better option than the reprogrammed cells, despite the ethical objections. Richard Murphy, president of the California Institute for Regenerative Medicine, also considers ES cells to be the 'gold standard' in research.
Meanwhile, Yamanaka also reported that other laboratories in the US and Japan were now also producing iPS cells, and maintained their potential for patients awaiting treatment. 'All you need is basic technology, cell biology, you don't need special technology or equipments', said Yamanaka, who also emphasised the increasing competition in this area of research
since his discovery of iPS cells last November. He estimated that while stem cell treatments might be available for some diseases within a decade, others could take considerably longer.
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