Scientists Map Entire DNA of Human Fetus

December 10, 2010


Parents may soon be able to find out if their unborn child is prone to any inherited diseases, researchers said on Thursday, after developing a non-invasive technique to draw the entire gene map of the human fetus.

By analyzing a sample of the mother’s blood, which contains DNA from the fetus, scientists in Hong Kong and the United States were able to identify all the DNA strands that belong to the child and piece them together.

“Before this work, people only could look for one disease at one time but now you can construct a screen for a number of diseases which are prevalent in any particular population,” said lead author Dennis Lo, professor of medicine from the Chinese University in Hong Kong.

The research team’s breakthrough was discovering that the mother’s plasma holds the entire fetal genome. Previously, only part of the baby’s DNA was thought to be in the mother’s blood.

“Now that we know (the) entire fetal genome is in there, you can look for any disease that is genetically inherited.”

The study, published in the journal Science Translational Medicine on Thursday, recruited a couple undergoing prenatal diagnosis for a hereditary blood disorder, beta-thalassemia.
“In the mother’s blood, 90 percent of the DNA is her own … and 10 percent is the baby’s. Half of the fetal genome is from father and half from mother,” Lo said.

Lo described the process as akin to putting together a jigsaw puzzle with millions of pieces — only in this case, 10 times as many pieces from a much larger jigsaw were mixed in with it too.

“The whole genome is fragmented into millions of pieces and by this exercise, we assemble it back,” Lo said.
“It’s like assembling a jigsaw puzzle with millions of pieces. But to make it more challenging, you mix in 10 times (the number of pieces) from another jigsaw puzzle, that’s the mother’s own DNA. And you are trying to assemble the child’s.”

Experts who were not involved in the study called for caution.

“It is too early to apply the technology widely as we are not yet able to interpret many of the results that can be generated accurately,” said Christine Patch, chair of the British Society for Human Genetics. “We do not randomly test pregnancies for a long list of … conditions that may only manifest in adult life on the basis that individuals may not want to know that information when they are older.”

Chinese Study Suggests New Way to Test for Genetic Diseases

December 10, 2010


A new test that requires only a tiny sample of a mother’s blood to scan the genome of a fetus may offer a safer alternative to current methods of prenatal screening for genetic diseases, a new study suggests.

Currently, a sample of fetal tissue is collected using invasive procedures such as amniocentesis or chorionic villus sampling, both of which pose a small but definite risk to the fetus.

But, Chinese researchers found that fetal DNA floating in the mother’s blood contains the entire fetal genome and can reveal a number of genetic and chromosomal disorders in the fetus.

They used the method on a couple undergoing prenatal diagnosis for a type of genetic anemia called beta-thalassemia. The results showed that the fetus had inherited the beta-thalassemia mutation from the father and a normal gene from the mother, meaning the fetus was a carrier of the disease.

The study is published in the Dec. 8 issue of Science Translational Medicine.

Genetic infertility treated successfully at Mumbai hospital

November 24, 2010


A woman with a rare genetic disorder ‘Robertsonian Translocation’, resulting in infertility, has delivered a healthy baby girl at the Jaslok Hospital and Research Center.

“With this first Invitro fertilisation (IVF) using pre-implantation genetic diagnosis (PGD), India joins a handful of countries that have accomplished successful management of this disorder,” Dr Firuza Parikh, Director, Assisted Reproduction and Genetics at Jaslok and former Professor at the Yale University School of Medicine, USA, said.

The baby girl was delivered yesterday at city’s Jaslok hospital, Parikh said adding that this case report was published as a cover article in the peer reviewed ‘Journal of Prenatal Diagnosis and Therapy’ (January- June 2010).

Attributing the success to her team of 40 individuals particularly Dr Prochi Madon, Dr Arundhati Athalye, Mr Nandkishor Naik and Dattatray Naik, Parikh explained, “We are born with 46 chromosomes which occur in pairs. Each chromosome of a pair is a mirror image of the other. Although this harmony ismaintained in nature, an occasional slip results in a translocation.”

“As the name suggests, a segment or an arm of one chromosome transports itself onto another chromosome and one such rearrangement is called a RobertsonianTranslocation after the American geneticist Dr W Robertson,” she said.

“The rearrangement can occur in males and females who do not manifest any clinical symptoms. The problem manifests when the couple tries to conceive,” Parikh said.

“An embryo derives half its chromosomes from the father and half from the mother. Hence if the chromosome with extra genetic material goes into the embryo, the amount of genetic material of that chromosome triples resulting in miscarriage or mental retardation,” the In-vitro fertilization (IVF) expert said.

The embryos were screened using Pre-implantation Genetic Diagnosis (PGD).

Eleven years ago, Parikh and Madon established PGD for genetic disorders for the first time in India at the Jaslok Hospital and Research Centre.

Parikh who led this procedure, said, “PGD requires years of perfection, team work and a thorough knowledge of reproductive biology and genetics. The couple first undergoes IMSI (intracytoplasmic morphologically selected sperm injection).

In this procedure the egg and the sperm are magnified 7000 times. With the help of a sharp pipette a single sperm is injected into the egg and the resulting embryo is ready for PGD when it reaches the eight cell stage.”

“A laser beam swiftly cuts open the shell of the embryo, a fine glass pipette is advanced towards one of the cells of the embryo. Using gentle suction, a single cell is aspirated. This cell is then processed by the genetics team,” Parikh said.

Madon, chief geneticist added, “The cell is put through an overnight procedure called Fluorescence In Situ Hybridisation (FISH), a procedure to zip open the DNA strands and attach coloured probes, to identify the chromosomes of interest.”

In this particular couple, the wife had a translocation between chromosomes 13 and 14. Two embryos underwent the procedure of PGD. This embryo was transferred into the mother’s womb, resulting in the birth of a healthy baby girl.

“PGD is an effective form of treatment for couples at a risk for Down Syndrome and other chromosomal abnormalities, for women approaching 40, those with repeated failed attempts at IVF/ICSI (Intracytoplasmic sperm injection), those women showing poor quality embryos and for severe male factor infertility. It is also helpful in some rare genetic diseases like haemophilia,” Parikh said.

“We are now in the process of setting up a facility for PGD to detect embryos at a risk of Thalassemia. We have also started offering this procedure routinely to couples undergoing IVF/ICSI in order to select normal embryos so that less number of embryos are transferred,” she said.

This will increase the chances of a normal pregnancy and decrease the chances of a miscarriage. This technique is called pre-implantation genetic screening (PGS), Parikh added.

Studying Tropical Genetic Blood Diseases

October 16, 2010

Sir David Weatherall, 77, an Oxford researcher-physician, was among the first to use the tools of molecular biology to understand thalassemia. He was in New York to receive the Lasker-Koshland Special Achievement Award for “50 years of international statesmanship in biomedical science.” A condensed version of  conversations with him follows:


A. In 1956, after I’d finished my medical training, I was drafted for compulsory military service. At the time, there was an insurgency in Malaya, where the Commonwealth forces were fighting the Communists, and I was not anxious to get involved with that. Nonetheless, I soon found myself on a troop ship for Singapore.

When I got there, because I had no pediatric training, the army put me in charge of a children’s ward looking after the families of Commonwealth soldiers. And there I encountered a 2-year-old, the daughter of a Gurkha from Nepal. She had profound anemia. No one understood why. We kept her alive with transfusions.

So in my spare moments, I went to the biochemistry department at Singapore University Hospital, and worked with people there to try to figure it out. Within six months, we had an answer: thalassemia. That was a big surprise. This genetic disease was thought to occur only in the Mediterranean.


A. It’s a defect in the genes that makes it impossible for hemoglobin to properly form. Of course, in the 1950s, we understood little about hemoglobin’s biochemistry. Thalassemia was, and is, a terrible disease. The children generally don’t live to adulthood — and then only with constant transfusions. In the case of this little girl, her parents eventually took her to their village in Nepal, where she died.


A. Yes. The army next sent me up to northern Malaya, where the last of the fighting was going on. I used this time to search for more thalassemia. I’d construct equipment from old car batteries and filter paper, and that’s how I separated the different hemoglobins in the blood samples I’d collect. Whenever I found anything abnormal, I’d post the slides to a good old boy, Herman Lehman, at a laboratory in London. We actually found one or two more cases that way.

Read Complete Interview Here..

Genetics project launched to cut infant deaths

October 12, 2010


A three-year genetics project has been launched in Birmingham to help tackle the city’s high infant mortality rate by raising awareness of inherited genetic disorders. The project has three strands: educational, clinical and primary care.

The primary care strand of the project, which was launched this week, aims to raise the profile of inherited genetic disorders through the public’s engagement with GPs. Three GP practices in the Heart of Birmingham Teaching Primary Care Trust are offering a screening programme for inherited blood disorders, such as sickle cell anaemia and thalassemia. They are raising awareness of other genetic disorders and are identifying families appropriate for specialist referral. The clinical strand of the project includes developing 30 new molecular tests for genetic diseases over the next three years. ‘We wanted to launch in primary care to raise the profile of this area among GPs and Primary Care’, said project manager Yasar Eltaf, from the Birmingham Women’s hospital.

The project’s focus is on genetic risk generally, but first-cousin marriage is a risk factor for inherited genetic disorders. Birmingham’s infant death rates were linked to first-cousin marriage by a Channel 4 Dispatches programme aired in August this year. A community educator from the Enhanced Genetic Services Project, Zahira Maqsood, emphasised: ‘This project is not about chastising families and community groups for their marriage and cultural choices. It is about enabling people to be aware of potential health risks and choices available to them’.

Infant death rates in Birmingham are 8.2 per 1000 population, almost double the national average of 4.8 per 1000 population. About 139 infants die each year in the city.


Apollo Hospitals introduces coagulation screening test

September 7, 2010


Apollo Hospitals, Dhaka has introduced a coagulation screening test in single blood sample in its lab medicine department, according to a press release.

Coagulation screening test provides precise diagnosis of any abnormality of blood coagulation as in hemophilia, thalassemia, blood malignancy, other malignancy or any genetic disorder.

This screening consists of a set of seven tests like Bleeding Time (BT), Clotting Time (CT), Platelet count, Prothrombin Time (PT), Activated Partial Thromboplastin Time (APTT), Thrombin Time (TT) and Fibrinogen assay in a single blood sample collection.

The report will be delivered same day after 5:00 pm if sample is received within 12:00 noon, if later then it will be delivered next day after 10:00 am, the release added.

UAE Genetic Diseases Association carries on initiative for UAE free from thalassemia by 2012

July 30, 2010


UAE Genetic Diseases Association (UAEGDA), the sole non-profit genetic organization in the UAE, recently announced that they are on track to achieve their “UAE Free from Thalassemia 2012” initiative, saying that the target looks quite achievable to eliminate births of children born with the genetic blood disease within the next two years.

Offering free and confidential testing and in association with National Bonds Corporation PJSC, the organisation held a blood screening drive earlier this week for its employees to screen them for the most commonly inherited blood genetic disorders—including as Beta Thalassemia, sickle cell anaemia, G6PD deficiency and Diabetes Mellitus—in support of UAEGDA’s national health campaign.

Regularly organized screening drives help to increase an individual’s awareness on the health risks posed by genetic blood disorders, which can be passed from one generation to the other. The process begins by registering online at the UAEGDA website. Bar-coded labels are then printed and placed on the individuals testing tubes after which the sample of blood is processed in the UAEGDA laboratory. The results are then sent directly to the individual’s email with all the details being handled solely between the client and the organization.

Dr. Maryam Matar, Founder & Chairman of UAEGDA, says that genetic blood diseases like thalassemia are highly prevalent in the UAE but can be addressed with a simple and inexpensive blood test as a primary solution in helping to reduce the presence of hereditary diseases in the country.

“We are confident that with the rapid increase in the activities of our organization and with all the awareness events organized by UAEGDA across the country, we can make the UAE free of thalassemia by 2012,” adds Dr. Matar.

As one of UAEGDA’s leading partners, National Bonds Corporation PJSC takes responsibility towards its employees seriously and is working in association with UAEGDA to support the government’s campaign to eradicate thalassemia in the country by 2012.

“We are committed to stepping up the fight against thalassemia and working towards the health of the nation, both in terms of physical and financial wellbeing,” comments Mr. Mohammed Qasim Al Ali, CEO of National Bonds Corporation PJSC.

“By offering our employees UAEGDA’s free and confidential voluntary tests, we can ensure their own wellbeing as well as that of future generations.”

The UAE Genetic Diseases Association has been able to considerably reduce the impact of common genetic disorders prevalent in the country through its community outreach programs, health education, counseling and free screening tests. They also have a free genetic clinic equipped with a state-of-the-art screening facility supervised by internationally renowned experts.

UAE Genetic Diseases Association runs series of Thalassemia screening campaigns

May 26, 2010

Courtesy by:

UAE Genetic Disease Association (UAEGDA), the sole non-profit genetic organization in the UAE, has begun a month-long screening campaign to bring attention to the presence of thalassemia in the UAE following the commemoration of World Thalassemia Day earlier this month.

According to the Genetic and Thalassemia Centre in Dubai, one in 12 persons in the UAE is said to be a carrier of the disease.

The latest UAEGDA campaign is touring locations throughout the UAE with over 500 volunteers from various institutions assisting in the effort. Participants are working under the mission of educating the population about common genetic disorders (such as Thalassemia, Sickle Cell Anemia, G6PD Deficiency & Diabetes) and informing them about the free screening and counselling services provided by the UAEGDA. Different venues will be targeted throughout the month of May including Deira City Centre, 11 different Emarat and ADNOC fuel stations across the UAE, and various colleges and corporate houses.

Nearly 5,000 individuals were tested for the disease in the last year, according to UAEGDA officials, and an expansion of the group’s capacity has attracted partners throughout the country, including groups like the UAE Marriage Fund—a partner in UAEGDA’s current campaign.

The benefits of screening tests lay not only on an early detection of the disorder, but also preventing the birth of children born with thalassemia major. As in the case of all hereditary recessive diseases, there is a 25% chance for the child of thalassemia-carrier parents to become affected, another 50% chance of which will be carriers, while the rest go on seemingly unaffected.

“Thalassemia is a major public health issue in the UAE, which affects so many families at social, medical, financial and psychological levels,” says Dr. Maryam Matar, Founder & Chairman of UAEGDA. “Blood screenings campaigns in general are the best way to help reduce the presence of hereditary diseases in the country. Certain diseases like thalassemia and diabetes have especially high prevalence in the UAE, and this is the first step in identifying a problem that could extend for generations to come.”

A great deal of scientific data has in fact been documented to show trends of selected genetic disorders in UAE communities, and it is the mission of UAEGDA to make the country free from births of children born with thalassemia by 2012.

Arresting spread of thalassemia

May 15, 2010

Courtesy by:

For the first time religious scholars, politicians from the ruling alliance, as well as the Speaker of the Sindh assembly, Shehla Raza, joined doctors for the prevention of thalassemia and demanded that legislation be made to take the blood test of couples before they are married.

At a press conference held by the Husaini Blood Bank on Wednesday at the Karachi Press Club, the Naib-Amir of the Jamat-e-Islami (JI), Sindh, Dr Arif Alvi, along with Aslam Ghauri, representative of the Jamiat Ulema-e-Islam (JUI) supported the demand made by the members of the blood bank and said that they would co-operate in whatever way they could.

Speaker Sindh Assembly Shehla Raza said that making a legislation wouldn’t be enough as the efficacy of law in implementing the legislation was also necessary.

Thalassemia is basically a genetic blood disease which is transferred to the children through their parents. “Thalassemia patients lead a normal life,” said Asad Ali, Chief Executive Officer at the Husaini Blood Bank, “but the problem occurs when two thalassemia minors get married which transmits the disease in their children and makes them a thalassemia major, which is far more severe.”

He said that that at present, out of the 160 million population of Pakistan, 1 million ere patients of thalassemia minor whereas 6,000 newborns every year were diagnosed with thalassemia major, which is a major cause for concern. Apart from that he said that the reason this disease is spreading so fast is that not many people are aware of its symptoms. Moreover, he said that those infected with thalassemia major need frequent blood transfusions, said Asad.

“We need 7,660 blood bags daily but unfortunately this enormous demand is not met the way it should be,” said Asad. He said that it had been proved in research that donating blood once a year protected one from cardiac diseases. The speakers stressed that legislation in this regard will help in control thalassemia.

Minister of Health Inspects Pre-marriage Central Lab in Sharjah

May 15, 2010

Courtesy by:

WAM Sharjah, 1st May 2010 (WAM) — His Excellency Dr. Hanif Hassan, UAE Minister of Health, inspected the pre-marriage central lab in Sharjah and viewed the functions of the laboratory tests and its preparations for receiving and operating modern equipments to be provided to the laboratory in the near future.

He was accompanied by Dr. Salem Al Darmaki, Acting Director General, Dr. Mahmood Fikri, Executive Director for Health Policies and Ahmed Al Nuaimi, Acting Director of Primary Healthcare Central Administration.

He was briefed about the progress of work in the laboratory and the required services for pre-marriage test results in order to avoid infectious and genetic diseases as well as the reviewed steps starting from receiving samples, drawing conclusions and identifying the development sizes of equipments and devices in addition to the future plans of upgrading the services of the laboratory.

“We assure the importance of correcting misconceptions among the public about genetic diseases and emphasize our efforts in answering their questions in a scientific and credibility manner through clinical testing and counseling. The Ministry also seeks to implement the goals of the program in order to help society members avoid physiological, financial and physical burdens for having children with genetic diseases”, His Excellency elaborated.

Furthermore, Dr. Nora Al Suwaidi, Director of pre-marriage tests at the Ministry of Health, emphasized the importance of pre-marriage tests as they prevent more than 60% of congenital malformations and 100% of genetic diseases such as thalassemia and cell anemia.

Dr. Al Suwaidi stated that the tests reduce transmission of infectious diseases from one member to another through early detection and treatment and protect the fetus from these diseases too. Unfortunately, such diseases may lead to either the death of babies, mental disabilities or birth defects. Hence, the costs of caring for these children are approximately AED 3 million during his/her lifetime.

The adopted tests at the central laboratory include: genetic blood disease including blood type; rhesus factor disease, beta thalassemia, cell disease, hemoglobin in addition to other infectious and sexually transmitted diseases such as: AIDS, viral hepatitis B, viral hepatitis C, sexually transmitted diseases between spouses (syphilis), and immunization against German measles for women.

Furthermore, Dr. Mahmood Fikri, Executive Director for Health Policies at the UAE Ministry of Health, explained that the services provided by the testing program include information about genetic family medical history, blood tests, counseling sessions for needed cases and other information vaccinations especially German measles and hepatitis B.

He said: “There are 10 centers or clinics which provide testing services all over the UAE. We are also working on the addition of new advanced equipments to the central laboratory and provision of integrated services in order to establish it as a referential center for genetic diseases tests in the country”.

Dr. Fikri added that the program trains medical and technical staff of the testing and counseling clinics on the methods of conducting personal interviews with couples wishing to get married and making the necessary medical tests. “In future time, all testing centers will be connected electronically with a direct link to the Ministry of Health and health authorities in Abu Dhabi and Dubai”, he concluded.

Statistics of the Center for Arab Genomic Studies for November 2007 indicated that the number of genetic diseases in the UAE reached 240 diseases of which: 82 caused by inbreeding marriages, while 26% of the relative marriages are of first degree. The testing procedures and medical tests approved by the UAE Ministry of Health contributed to the detection of some cases that could have led to unexpected genetic diseases yet they have been treated positively and the marriage steps have been completed.

According to the latest statistics between January and December 2009, around 19.285 people of which 10.956 locals conducted the pre-marriage tests. The tests indicated that 1113 local and expatriate cases were discovered as genetic blood diseases including: beta thalassemia, anemia, E,D and C hemoglobin differences and other blood diseases.

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