Monday, December 24, 2007

The Gujarati Boy

One day many years ago at a school in South London a teacher said to the class of 5-year-olds, "I'll give GBP 20 to the child who can tell me who was the most respected man, whom people consider God, who ever lived."

An Irish boy put his hand up and said, "It was St. Patrick." The teacher said, "Sorry Alan, that's not correct."

Then a Scottish boy put his hand up and said, "It was St. Andrew." The teacher replied, "I'm sorry, Hamish, that's not right either.

Finally, a Gujarati boy raised his hand and said, "It was Jesus Christ." The teacher said, "That's absolutely right, Jayant, come up here and I'll give you the GBP 20."

As the teacher was giving Jayant his money, she said, "You know Jayant, since you are Gujarati, I was very surprised you said Jesus Christ." Jayant replied, "Yes, in my heart I knew it was Lord Krishna, but business is business!"

Thursday, December 20, 2007

Klinefelter's Syndrome





Klinefelter's Syndrome is a genetic disorder characterized by infertility, abnormal male breast tissue development (gynecomastia) and small, firm testes. It is the most common cause of azoospermia (no sperm production). Klinefelter's Syndrome is caused by an abnormal number of sex chromosomes. Whereas a normal male genetic make-up includes one "X" chromosome and one "Y" chromosome, in patients with Klinefelter's Syndrome, an extra "X" chromosome is present, resulting in three (XXY) sex chromosomes. Thought at one time to be hopelessly infertile, it has been found that these men can have small amounts of sperm production occuring within the testicle. Our Center has successfully recovered sperm in men with this disorder who have gone on to father normal, healthy children. It is important that all men with very low or absent sperm counts be tested for Klinefelter's Syndrome before offering IVF and ICSI.

Wednesday, December 19, 2007

Glow-in-the-dark cats can help with gene therapy in the future




Last week South Korean scientists reported that they had successfully cloned cats whose genes had been altered so that they 'glow-in-the-dark' under UV light. It is hoped that the ability to alter genes in this way may help scientists discover how to make more complicated gene changes, allowing them to artificially create animals with human genetic diseases for carrying
out research into new treatments or cures. The discovery, made by researchers at Gyeongsang National University, is
significant because - with a duo of glow-in-the-dark cats as living proof - it marks the first time that scientists have successfully altered the genetic code of cloned cats. 'This technology can be applied to cloned animals suffering from the same diseases as humans', Kong Il-keun, who led the research, told AFP. 'It will also help develop stem cell treatments', he said, noting that cats have some 250 kinds of genetic diseases that affect humans, too. The technology can also help clone endangered animals like tigers, leopards and wildcats, Kong said.
The three cats - all Turkish Angoras - were created by taking skin cells from donor female cats and using a harmless virus to insert the gene for 'Red Fluorescent Protein' (RFP) into the nucleus of each cell, thereby altering its genetic code. The nuclei of the donor female's egg cells were then removed and replaced with the gene-altered nuclei of the skin cells, to
create a cloned embryo.
To find out if they had been successful in their attempt at creating gene-altered embryos, the researchers implanted the cloned embryos back into the donor females to show that the cloned kittens did indeed glow-in-the-dark, indicating that they expressed RFP in their skin. The three cats were reportedly born by Caesarian section in January and February of this year. Although one was a stillbirth, the scientists claim that it too had expressed the RFP protein throughout its body, indicating
that their methods had worked in all three cats. The scientists hope that the ability to create animals that mimic human diseases can speed up efforts to find treatment and drugs by allowing scientists to study animals and conduct experiments that are not possible with human patients. With the current price tag of tens of thousands of dollars to clone a single cat,
glow-in-the-dark pets are unlikely to become a commercial venture in the near future.The discovery was announced last week in a press release by the government managed Korea.net news service, however peer reviewed papers and
replications of the same experiment will be eagerly awaited to prove the validity of these results.

Tuesday, December 18, 2007

UK Couple to Test Embryos for high Cholesterol disorder

UK doctors are expected to receive permission to help a couple avoid passing on a hereditary condition that causes very high blood cholesterol to their children, according to the Times. The newspaper reports that a team lead by Paul Serhal, of University College London, will be granted a license by the Human Fertilisation and Embryology Authority (HFEA) this week. This will enable them to use preimplantation genetic diagnosis (PGD) to select embryos free from the gene mutation that causes both the mild and severe forms of familial hypercholesterolaemia (FH). One in 500 people in the UK has inherited the mild form of FH, although many of those with the condition are thought to remain undiagnosed. The condition can increase the risk of a heart attack in men under fifty by ten-fold. However, if treated through diet, exercise, lifestyle changes and
- in some cases - with statin drugs, this risk can be drastically reduced. FH also increases the risk of strokes and blood vessel failure, which can lead to limb amputations. In contrast to the mild form of the condition, which affects people who inherit just one copy of the faulty gene, there is also a severe form of FH that affects children who inherit a 'double dose' of the mutation. This 'homozygous' form of the disease leads to very high levels of cholesterol from the age of around five, and can often cause death in childhood. Unlike the mild form, it does not always respond well to treatment with statins or other drugs.
The couple seeking treatment at UCL both have mild FH, which they discovered only after having a daughter with the homozygous, severe form of the disease. There is a 25 per cent risk that any subsequent child will also inherit the severe form of FH, who, unlike their first child, may not respond well to treatment. There is also a 50 per cent chance that they will
pass on the mild form of the condition to their next and subsequent child, and a 25 per cent chance that each will be unaffected.
PGD involves taking a single cell from a 2-4 day old IVF embryo, performing a genetic or chromosome test on that cell, and then returning one or two unaffected embryos to the womb. In the UK, the use of PGD is regulated by the HFEA, which licenses the procedure on a case-by-case basis. The couple approached Mr Serhal after learning that his clinic offered PGD for hereditary breast cancer. If the procedure is successful, then the couple will be able to select one or more unaffected embryos to implant. However, if there are no unaffected embryos, then the couple will have to decide whether or not to select embryos that have the milder form of FH. Mr Serhal told the Times: 'This obnoxious disease can cause cardiovascular accidents at a very young age. Ideally, we will find embryos with no FH genes, but it is possible we will not and it will be up to the patients to choose. Some people would think twice about using embryos that they know have a risky gene, and others would say you shouldn't screen out a condition that can be managed so people can live with it. It will be an awkward choice'.