Tuesday, January 15, 2008

Unknown Sperm Donor Passes Disease to Five Children

Doctors have discovered that a sperm donor in the US has passed on a rare genetic disease to five children born to four couples who used his sperm to conceive. The disease, severe congenital neutropenia (SCN), can be fatal in children if untreated but is so rare that sperm banks do not typically test for it. Even though donors are asked to give full details about their medical and family history, the information they provide would not necessarily ever indicate the presence of the risk, especially if the man had no symptoms of the condition himself or was only a carrier.
Although the provision of fertility treatment is not regulated in the US, guidelines issued by the American Society of Reproductive Medicine (ASRM) state that anonymous gamete donors must provide a family medical history that goes back for at least three generations. The ASRM guidelines also state that full chromosomal screening is not needed where there is a proper family history detailing any potential heritable disorders. Sperm donors are routinely screened for more common genetic disorders, such as cystic fibrosis or sickle cell anaemia, but not for more rare genetic diseases. The cluster of SCN cases was identified by the SCN International Registry and by Dr Laurence Boxer, director of paediatric haematology and oncology at the University of Michigan and an expert on the disease. Although the researchers did not have sperm samples to test, as the clinic had discarded the remainder of the man's sperm, they concluded that the children affected could all be traced back to the sperm of one man because the four couples with affected children all used sperm from the same sperm bank in Michigan, US, and all had the same version of the defective gene. Dr Boxer, who co-authored a report on the findings published in the Journal of Paediatrics, refused to identify the sperm bank by name, or say where the couples treated came from, and stated that it was not known whether the man concerned knew he was a carrier - the sperm bank only reported that the man concerned was 'healthy'. Dr Boxer speculates that as the man was otherwise healthy, he must have had an unusual condition called mosaicism, in which the mutated gene was carried only in his sperm and not in the rest of his body. 'Otherwise he would have been a very sick man', he said.
SCN occurs in only about one in 5 million births - children born with the disease cannot make the type of white blood cell that kills bacteria in the body and, as a result, they are unable to fight infections. The children affected are receiving treatment which helps them to build up their white blood cell production, said Dr Boxer. But he added that they will always have a greater risk of developing leukaemia than other children and all face a 50 per cent chance of passing the condition on to their own children. 'The bottom line is, when you use a sperm donor, you really don't know what you're getting', he said, adding that prospective parents should be advised that screening of donors will not always identify all potential genetic diseases. 'The mothers need to be prepared that there is always an inherent risk of a genetic disorder being transmitted by the donor's sperm', he advised.

Monday, January 14, 2008

Twins Born 16 Years Apart

UK newspapers have reported on the story of 'twin' girls born 16 years apart following IVF treatment. Jane and Alan Davis began IVF treatment in March 1989. Thirty-three eggs were collected, and fertilised with Mr Davis' sperm, producing a number of viable embryos. Three were implanted and 22 others were kept in frozen storage to potentially be used in the future.
Emma Davis, now 16-years old, was born in December 1989. Her sister, Niamh, who began life as an embryo at the same time as Emma, was born in December 2005. According to UK law, IVF embryos can usually only be kept for five years, with the possibility of an extension. Doctors treating the couple decided that their circumstances were so exceptional that they should be granted a special dispensation to keep their frozen embryos in storage for longer. Although siblings have been born up to 21 years apart after the use of frozen sperm, this means that 16 years is now the record for siblings being born from the same batch of IVF embryos.
'We feel incredibly lucky that we've finally been able to complete our family. It's been a long and traumatic journey, but we're so glad we never gave up', said Mrs Davis who has had ten miscarriages, three ectopic pregnancies and lost a third child - conceived from the same batch of IVF embryos. The ectopic pregnancies, which followed after Mrs Davis conceived naturally after the birth of Emma, damaged Mrs Davis' fallopian tubes so badly that she had no chance of conceiving naturally again. After saving money for more IVF treatment, in 2002, the Davises told Emma they wanted to try for another child using an embryo stored since she was conceived: 'We'd told Emma about the unusual circumstances of her birth and she'd simply accepted it', said Mrs Davis, adding 'she was just thrilled at the prospect of a brother or sister'. However, despite getting pregnant, they lost the baby at six months old. A second attempt ended in a miscarriage and doctors told the couple that embryos could not be kept frozen for ever without losing quality.
In April 2005, the couple decided to have one final attempt at IVF. Each time they tried, six embryos were thawed and the best selected for implantation. 'We knew that after this attempt, only three frozen embryos would remain, which might not be enough to keep trying', said Mrs Davis. But this time the pregnancy was uncomplicated. Dr Goswamy, who treated the couple initially at London's Churchill Clinic, and then later at the Harley Street Fertility Centre, said that he believed 16 years is the longest time between siblings born from embryos created at the same time. 'As far as I know, this is a record', he said, adding 'I don't know of any other case, anywhere in the world, where children from the same batch of eggs have been born 16 years apart'.
The Davises are discussing what to do with their three remaining frozen embryos, but are almost certain they will have them destroyed. 'I doubt three embryos is a large enough number to be useful in research', they said. Speaking about her new sister, Emma Davis said that she realises that 'it's very unusual to have a twin sister born 16 years after me'. She added: 'But we're not identical, and I don't really think of her as my twin, more as my baby sister'.
Although theoretically very long term freezing is possible, the normal period for embryo storage in the UK is limited to five years, because of the risks of embryo deterioration. However, this story seems to suggest that longer-term freezing carries few significant dangers. Planer, the company that developed the freezing equipment in which the embryos were stored, said in a press release that Niamh's birth 'is believed to set a new record for viability in the long term'. The previous record was twelve years, when in February 2004 it was reported in that a 39-year old Israeli woman has given birth to twins using frozen embryos created twelve years prior. On that occasion, the embryos had been frozen prior to storage in a controlled rate freezer also made by Planer.
We have a Planer at Rotunda:)

Sunday, January 13, 2008

Three Siblings affected with rare genetic disease

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'.

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'.

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.”

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.