Testing a future

February 9, 2010

Courtesy by: thejusticeonline.com

Last Tuesday the Lurias in Hassenfeld Conference Center had a different feel than usual. Instead of having empty chairs and tables, students were seated against the wall waiting in line or moving table to table to answer questions about their genetic histories. Next, students moved to to a table to have a blood sample taken. In four weeks, these students will know what genetic diseases they might carry.

Dr. Harry Ostrer, the geneticist behind the testing, came to Brandeis with a team of assistants from New York University to conduct free genetic tests on students of Jewish heritage. Ostrer, who has a distinctively dark mustache, specializes in studying diseases that affect Ashkenazi Jewish populations.

Ostrer and his team have been traveling to various college campuses across the United States to offer free genetic screening since the 1970s and 80s. Since then, Ostrer has been to schools such as Stanford, Harvard and Yeshiva University.

Genetic testing involves taking a blood sample so that the DNA can be sequenced and analyzed to find out whether a person carries genetic defects or diseases. The students who were tested will get their results back in four to six weeks.

Ostrer says the importance of getting tested as early as possible comes down to having a broader display of options about potential diseases early on. In the past, people learned about their risk for having affected children only after a child was born.

“Through genetic testing, it is possible to identify people whose children may be at increased risk,” says Ostrer.

Ostrer decided to focus his research primarily on Ashkenazi Jews after finding evidence pointing to the reappearance of many prevalent disorders in Jews of Eastern European descent. Diseases such as Canavan disease, cystic fibrosis and Tay-Sachs are some of the most severe. The signs and symptoms of Canavan disease are mental retardation, seizures and cerebral palsy. It progresses rapidly and is fatal by the age of 12, and approximately one in 40 Jews of Eastern European descent is a carrier. Cystic fibrosis causes frequent respiratory infections that later lead to lung damage. The disease also affects the digestive system and ultimately the heart. Approximately one in 20 Ashkenazi Jews are carriers. Tay-Sachs, one of the most feared diseases, causes blindness, mental retardation, seizures and paralysis. It is fatal by age four to five. Approximately one in 25 Eastern European Jews are carriers, while one in 300 are carriers in other groups.

Understanding how the body works is important in understanding Ostrer’s work. We inherit two copies of most genes, one from the mother and one from the father. If one of these genes is mutated, the proteins created from that gene will be abnormal. While a mutation in one copy of a gene can sometimes lead to disease, often a person with one mutation will only be a “carrier” of the disease rather than express the disease themselves. A man and a woman who both carry the genetic defect, however, are at risk for having a child with two defective copies of the gene and thus the disease.

Ostrer’s extensive research on Jewish genetics has created awareness among Jewish college students about what diseases they may be carriers of.

Ostrer tests students, most of whom are unmarried, to give them time to think about their options. Since most college students are not confronting reproductive choices, upon finding out that they are carriers of a gene for a recessive disease, they will be able to make more informed decisions.

Paul Gale ‘12, is a little nervous about the results but thinks that testing is important and was surprised that more students were not tested.

“It’s a reality I’d have to face at sometime, and I’d thought I’d get it over with. It puts things into perspective,” says Gale.

Ostrer says that couples in which both partners carry recessive genes for any given disease have two options in order to bear a child.

“For couples who have an affected fetus, there is termination of pregnancy. Another possibility for carrier couples is in vitro fertilization,” says Ostrer. “When you’re in college, it is not too soon to start thinking about it.”

With that in mind, some college students were still skeptical about getting tested.

“There is no need to know now; when and if I decide to have children, I will definitely consider getting screened,” says Nathan Mizrachi ‘12.

Students who did choose to get tested were primarily of Ashkenazi descent. However, there is a common misconception that most genetic diseases are prevalent only among Ashkenazi communities.

“There are some conditions that are common in both Ashkenazi and Sephardic communities,” says Ostrer.

For example, cystic fibrosis is present among virtually all Jewish populations, says Ostrer.

Ostrer also says that the there is a very low possibility of there having been any sort of cultural interaction or exchange among Ashkenazi and Sephardic Jews, given that they lived on completely opposite sides of the world.

“Some people think that being a carrier of cystic fibrosis actually increases your resistance to being infected by plague, so there may actually have been natural selection occurring that gave selective survival advantage to people with cystic fibrosis,” says Ostrer, although he says this is only a theory.

Apart from his work on college campuses, Ostrer is also looking to expand these genetic screening tests to involve other ethnic groups. Many ethnic groups have diseases that occur more frequently among their members than in general populations. For example, sickle cell anemia is very common among black populations, and thalassemia is prevalent mainly among individuals of Mediterraean ancestry.

Currently, Ostrer and his team are looking to “develop genetic tests that would be more specific for Iranian and Syrian Jews, which are the third- and second-largest Jewish populations in America.”


Police donate blood for thalassemia patients

February 9, 2010

Courtesy by: dailytimes.com.pk

ISLAMABAD: Islamabad police on Saturday donated blood for thalassemia patients to uphold the concept of friendly policing.

According to a press release, Umair Sana Foundation (Red Crescent) arranged the blood donation camp at Islamabad Traffic Police (ITP) Headquarters. Inspector General of Police (IGP) Syed Kaleem Imam, Senior Superintendent of Police (Traffic) Dr Moeen Masood and several other officials donated blood to help those suffering from various blood diseases.

Imam said Islamabad police were determined to ensure protection to the life and property of the citizens and taking part in various welfare works. “Islamabad police would always be in the forefront for the service of humanity,” the IGP said. “Through such gestures the health of patients who needed blood in time, would improve,” he added.

Imam said Islamabad police were the role model for other law-enforcement agencies and every personnel of this force would contribute to the efforts against thalassemia.

The blood donation camp would also be held at police stations and policemen would be urged to give more blood donation for thalassemia patients.


Gene therapy saved children

February 9, 2010

Courtesy by: nation.ittefaq.com

Research conducted in France in the field of gene therapy, in collaboration with a German team, has just resulted in an original clinical trial. The collaboration of an international group of researchers has allowed the progression of a very serious brain disorder in two young boys to be checked through the use of a totally new gene therapy technique. A success that opens up significant prospects for the treatment of many diseases.

For the first time, a brain disease has been treated effectively by gene therapy. The results of this therapeutic trial, published in the prestigious journal Science, have had a considerable impact in France and in the United States. This major scientific advance also received extensive publicity during the Telethon held on 4 and 5 December in France as part of the annual campaign to raise funds for research into genetic disorders.

Adrenoleukodystrophy (ALD) is a dreadful genetic disorder that affects one in 20,000 boys and leads, in its most serious but also most frequent form, to a breakdown of the myelin sheath of the brain through which messages are sent and received. These lesions can rapidly affect the vital functions and bring about the death of the sufferer. It was as a result of seeing children suffering from ALD in his paediatric neurology department at the Saint-Vincent-de-Paul hospital in Paris, that Professor Patrick Aubourg began his research: on developing a biochemical marker for diagnosis and treatment by bone marrow allograft, with his colleague Pierre Bougnères, as well as the paediatricians and researchers in immunology Claude Griscelli and Alain Fisher of the Necker Hospital for Sick Children. “These grafts enable us to arrest the development of brain disorders, but only after a waiting period of several months,” stresses Patrick Aubourg. “Moreover they are still dependent on finding compatible donors and can lead to complications that are often fatal”.

The new approach consists of grafting the patient’s own bone marrow cells, after treatment by gene therapy. The sample stem cells collected are corrected using a medicinal vector derived from the AIDS virus.

“An offshoot of research on AIDS, this discovery will have consequences for the treatment of patients suffering from this disease,” observes Patrick Aubourg in passing. After treatment, the stem cells are then re-injected. They then reach the bone marrow and head towards the brain where they play a corrective role.

This process, though it might appear simple, is the culmination of many years’ work. The clinical trials were conducted by INSERM, the French National Institute for Health and Medical Research, the Assistance Publique-Hôpitaux de Paris (city of Paris public hospital system), and the Paris-Descartes University of Medicine.

The innovative analysis of the development of corrected cells, carried out by the team led by Christof Van Kalle (Deutsches Krebsforschungszentrum, Heidelberg, Germany), was also a deciding factor. “Alhough we must remain cautious, this analysis shows that there is no particular reason to fear any harmful effect related to the insertion of the vector,” points out Nathalie Cartier, director of research at INSERM, who coordinated all the work.

After numerous tests, two trials were conducted in 2006, on two boys then aged 7: “more than three years later for the first child and two and a half years for the second, no worrying consequence was found,” comments Patrick Aubourg. “A third patient has been treated but it is still too soon to draw any conclusions.”

The scientists have managed up till now to correct some 15% of bone marrow stem cells and hope one day to correct 30% or even 60% of them, which would further shorten the time during which the disease continues to progress. Researchers and practitioners however stress the fact that the treatment stops the development of the disease, but does not cure it, hence the importance of early detection in high-risk families. A screening system at birth is also in the process of being validated in the United States.

Nathalie Cartier and Patrick Aubourg today envisage extending the clinical trials to other patients, in France and elsewhere. This major scientific advance is opening up new prospects by promoting the use of gene therapy vectors in the treatment of other diseases, such as thalassemia, a form of hereditary anaemia, or sickle cell anaemia, responsible for an anomaly in haemoglobin. Millions of people worldwide will no doubt eventually benefit from these cutting-edge treatments.


Free Screening!

February 3, 2010

Recently FAiTh (Fight Against Thalassemia) managed to organized a free thalassemia screening facility with collaboration HSC (Hospital Supply Corporation) in a free medical camp arranged by Usman Memorial Hospital, Hussainabad, Karachi.

Target was to screen 200 people for free, but due to lack of time we have managed to screen 122 people and 12 were caught as suspected, further screening is being done and soon they will be mailed their report on their address.

The event was covered by radio FM 107, Saama TV, Business Plus

After this successful event FAiTh soon will be arranging more screening camps on a bigger and better scale.

Pictures: Free Medical Camp!


First ladies of Cyprus, other countries join forces to help Thalassemia patients

January 28, 2010

Courtesy by: globaltimes.cn
The First Ladies of Cyprus, Lebanon and Albania joined forces in Cyprus on Wednesday to help thalassemia patients worldwide.

They gathered in Nicosia at the invitation of the First Lady of the Republic of Cyprus Elsi Christofia to inaugurate the International Circle of Dignitaries for the benefit of patients with haemoglobin disorders.

The Circle of Dignitaries is a new initiative by the Thalassemia International Federation (TIF), the Cyprus-based global federation of thalassemia associations. The objective of the Circle is to support the efforts of TIF to promote greater awareness of haemoglobin disorders, effective prevention and optimal patient care globally.

The founding members of the Circle are Elsi Christofia, First Lady of Cyprus, Liri Berisha, First Lady of Albania and Mouna Haraoui, representing the First Lady of the Republic of Lebanon.

Cyprus used to have a high percentage of thalassemia patients but managed to markedly reduce the number of patients by preventing the birth of babies having the disease through pre- marital examination.

“Cyprus has a long track-record of effective prevention and treatment of thalassemia and provides a successful model for other countries to follow,” Elsi Christofia said.

She said that both Lebanon and Albania are examples of countries where TIF has for many years been actively involved and where significant progress has been achieved in promoting the quality of life of patients.


Abu Dhabi Blood Bank Organizes Blood Donation Drive with Al Naboodah National Contracting Group LLC

January 28, 2010

Couresty by: eyeofdubai.com
The Abu Dhabi Blood Bank, which operates under the direction of the Sheikh Khalifa Medical City managed by Cleveland Clinic, launched a blood donation campaign today 24 January 2010 on its campus for the staff of Al Naboodah National Contracting Group LLC. More than (100) staff volunteered in response to the growing demand for blood and blood components. SKMC is owned and operated by SEHA, the Abu Dhabi Health Services Company, which is responsible for the curative activities of all the public hospitals and clinics in the Emirate of Abu Dhabi.

The Blood Bank organizes an average of seven blood donation drives weekly with different organizations in the Emirate of Abu Dhabi. Universities cooperate with the Blood Bank to organize such donation drives for its students, shopping malls for its visitors and companies for its staff. The blood collected through the Blood Bank in such campaigns or in its campus covers the needs of governmental and private hospitals in Abu Dhabi as well as other Emirates. Blood transfusions often are needed for trauma victims due to accidents and burns, heart surgery, organ transplants, and patients receiving treatment for leukemia, cancer or other diseases, such as sickle cell disease and thalassemia.

The Abu Dhabi Blood Bank medical staff performs tests on blood donors for hemoglobin, blood pressure and blood type. The blood collection process takes approximately 10-20 minutes per donor while the entire process from the time volunteers register and begin the screening until they leave took approximately 45 minutes to an hour. Educational brochures, leaflets and posters were distributed around the facility to raise awareness among the employees about donating blood. Volunteers provide nearly all the nation’s blood supply for transfusion; there is no substitute for Human Blood. If eligible donors give blood twice a year, it would greatly help in maintaining an adequate blood supply for the country. Eligible blood donors can donate blood 3-4 times a year safely.

Dr. Laila Abdel Wareth, Chairman of Laboratory Medicine at SKMC praised the efforts of the Abu Dhabi Blood Bank team for organizing the event and thanked the staff of Al Naboodah who donated blood to save lives.

Mr. Glyn Thomas, General Manager of Al Naboodah National Contracting Group LLC stated, “We are honored to organize with the Blood Bank this blood donation drive today. It is part of our social responsibility aiming to help the community and support the voluntary works whether it is for blood or other activities. We are proud to see a good contribution from our staff in donating their blood during this campaign which we aim on organizing annually”.

The Blood Bank staff ensures that international standards are complied with and that all blood donors were carefully screened to meet strict criteria and that all blood that is donated undergoes 6 major tests for infectious disease. The blood donation process is very safe; the health care team at the Blood Bank will assess donors to ensure their safety. It is not possible to acquire any disease through donating blood because only new, disposable, sterilized equipment is used for each donor.

The Abu Dhabi Blood Bank hours of operation are Sunday through Thursday from 7:00 am to 9:00pm and on Saturdays from 8:00am to 1:00pm. Organizations that would like to host the Mobile Blood Bank can call the Abu Dhabi Blood Bank to make arrangements.
To inquire, please call the Blood Bank at +971 2 4940400


Emirates Thalassemia Society honours DM

January 28, 2010

Couresty by: eyeofdubai.com

Emirates Thalassemia Society recently honoured Dubai Municipality for its contribution to the success of the “Future without Thalassemia” campaign, which was organized on the sidelines of the UAE’s celebration of the International Thalassemia Day last year.

Dubai Municipality was honoured during a meeting between Obaid Salem Al Shamsi, Assistant Director General for International Affairs and Partnerships Sector with Abdul Baset Mohammed Mirdas, Chairman of the Emirates Thalassemia Society.

“This recognition is the result of the Municipality’s conviction on the importance of creating awareness about Thalassemia disease in the community especially since it is the most common genetic disease in the country,” said Al Shamsi.

He added that the Municipality provided five locations for the promotion of the campaign and distributed brochures and booklets to the employees and customers in the main building and the Municipality branch centres.

Mirdas appreciated the participation of Dubai Municipality and its key role in achieving the goals of the campaign, pointing out that the society organizes campaigns to curb the spread of this disease in the UAE through educational awareness-raising events each year.


Free Medical Camp

January 27, 2010
Free Medical Camp at UMH

Free Medical Camp at UMH

FREE MEDICAL CAMP being organized by Usman Memorial Hospital, a project of the Okhai Memon Youth Services for the needy and less-affluent people living in the vicinity of Hussainabad, Gharibabad, Karaimabad, Moosa Colony and adjoining localities.

APART FROM ALL OTHER FACILITIES, THALASSEMIA.COM.PK in collaboration with HSC will conduct FREE BLOOD SCREENING of 200 Participants (Male/Female) to find out any sort of blood-disorders.

Some valuable material about THALASSEMIA for the awareness of general public will also be distributed.

Please avail this opportunity and visit the Usman Memorial Hospital.

Call: 111 UMH UMH (111 864 864)


FAiTh on The First Blast @ Dawn News

January 24, 2010

On the last day of 6th National Thalassemia Conference & Workshops I got a call from Dawn News that they wanted to interview me, it was indeed a pleasure to know that FAiTh is being given a chance to prove themselves.

On 30th December I gave interview at their studio, along with me there were Dr. Waleed Bin Azhar – CEO Fatimid Foundation, Karachi.

I have got the complete show video uploaded for you guys.

Dr Waleed tell what’s thalassemia, its issues, complications, etc. [Video 1 & 2]

I was called to be a motivational figure and I talked about life with thalassemia. [Video 3]

Mr. Nafees talked about his two children who were thalassemia major but couldn’t survive. [Video 4]


Efforts to Help Patients through Blood Donation

January 18, 2010

Courtesy by: himvani.com

Winters in Shimla have always been a nightmare for the patients who require blood transfusion to save their life. At Indira Gandhi Medical College Hospital, particularly, patients coming from the tribal and other far flung areas of the state used to face a lot of difficulties in arranging blood as in severe cold conditions the shelves of the blood bank remained almost empty. The reason was less voluntary blood donation camps during winters and no decrease in the demand of blood. But the winter season started from December 2009 is slightly different from the past years.

Umang Foundation, a public welfare trust, keeping in view the grim situation, decided to start a campaign of four voluntary blood donation camps and a drive to focus on the rights of the children with Thalassemia. The campaign was launched by the Chief Minister of Himachal Pradesh, Prof. Prem Kumar Dhumal along with the Health Minister Dr. Rajiv Bindal on 11th December, 2009 to celebrate the World Human Rights Day.

Mr. Ajai Srivastava, Chairman of Umang Foundation, said, “We tried to play the role of a catalyst. Our campaign was just to make local NGOs believe that during severe winters also, people can be motivated to donate blood. In our camp on 11th December, 50 units of blood were collected. After that some other organizations like Ashadeep, Save Life Mission and Sant Nirankari Mission etc. came forward to organize camps. This is the first winter in the history of Shimla when so many blood donation camps were conducted.”

The second camp of Umang Foundation was organized in collaboration with The Christ Church and YMCA Shimla on 20th December in the Church compound. During the Christmas celebration of one and half century old Christ Church, the blood donation camp was inaugurated by Rev. P.K Samant Ray, Bishop of CNI, and 40 persons donated blood in the camp. The third camp at the Ridge was held on 1st January to mark the New Year celebrations and in total 80 units of blood was collected. Mr. Narender Baragta, Horticulture Minister of the State, inaugurated the programme. The 4th and last camp of the series was organized on 14th January to celebrate Makar Sankranti, the Hindu Festival of donations. Defying snow and biting cold wave, as many 40 persons donated blood in the camp. Hundreds of people gathered at the Ridge to celebrate the festival with the children with Thalassemia.

It is pertinent to mention that all these camps were dedicated to the children with Thalassemia as this issue is at the top of the agenda of Umang Foundation. “During this campaign, we tried to make people aware of the genetic blood disorder called Thalassemia. Apart from this, we motivated hundreds of people, particularly youth and girls, for blood donation. We are the only organization to organize four blood donation camps in Shimla during severe cold. And if the need be, we are ready to organize one or two more such camps in this season”, added Ajai Srivastava.

The Chief Minister, while inaugurating the campaign on 11th December, had lauded the efforts of Umang Foundation and said that it provided more than 700 units of blood to the blood banks of Indira Gandhi Medical College Hospital and Ripon Hospital of Shimla in the calendar year of 2009. It was a big achievement of the Foundation when Chief Minister accepted its two major demands and announced to establish a separate Thalassemic ward and an Eye Bank in the I.G.M.C. Hospital, Shimla.

Dr. Sandeep Malhotra, Blood Bank Officer of I.G.M.C., Shimla, said, “These camps created history and helped us in a very crucial period to save life of hundreds of patients.” And that is not all! A large number of dedicated voluntary blood donors associated with Umang Foundation donated blood at the blood banks in emergency.