Gene Therapy for Immunodeficiency Due to Adenosine Deaminase Deficiency

January 29, 2009

Gene Therapy for Immunodeficiency Due to Adenosine Deaminase Deficiency

Alessandro Aiuti, M.D., Ph.D., Federica Cattaneo, M.D., Stefania Galimberti, Ph.D., Ulrike Benninghoff, M.D., Barbara Cassani, Ph.D., Luciano Callegaro, R.N., Samantha Scaramuzza, Ph.D., Grazia Andolfi, Massimiliano Mirolo, B.Sc., Immacolata Brigida, B.Sc., Antonella Tabucchi, Ph.D., Filippo Carlucci, Ph.D., Martha Eibl, M.D., Memet Aker, M.D., Shimon Slavin, M.D., Hamoud Al-Mousa, M.D., Abdulaziz Al Ghonaium, M.D., Alina Ferster, M.D., Andrea Duppenthaler, M.D., Luigi Notarangelo, M.D., Uwe Wintergerst, M.D., Rebecca H. Buckley, M.D., Marco Bregni, M.D., Sarah Marktel, M.D., Maria Grazia Valsecchi, Ph.D., Paolo Rossi, M.D., Fabio Ciceri, M.D., Roberto Miniero, M.D., Claudio Bordignon, M.D., and Maria-Grazia Roncarolo, M.D.


Background We investigated the long-term outcome of gene therapy for severe combined immunodeficiency (SCID) due to the lack of adenosine deaminase (ADA), a fatal disorder of purine metabolism and immunodeficiency.

Methods We infused autologous CD34+ bone marrow cells transduced with a retroviral vector containing the ADA gene into 10 children with SCID due to ADA deficiency who lacked an HLA-identical sibling donor, after nonmyeloablative conditioning with busulfan. Enzyme-replacement therapy was not given after infusion of the cells.

Results All patients are alive after a median follow-up of 4.0 years (range, 1.8 to 8.0). Transduced hematopoietic stem cells have stably engrafted and differentiated into myeloid cells containing ADA (mean range at 1 year in bone marrow lineages, 3.5 to 8.9%) and lymphoid cells (mean range in peripheral blood, 52.4 to 88.0%). Eight patients do not require enzyme-replacement therapy, their blood cells continue to express ADA, and they have no signs of defective detoxification of purine metabolites. Nine patients had immune reconstitution with increases in T-cell counts (median count at 3 years, 1.07x109 per liter) and normalization of T-cell function. In the five patients in whom intravenous immune globulin replacement was discontinued, antigen-specific antibody responses were elicited after exposure to vaccines or viral antigens. Effective protection against infections and improvement in physical development made a normal lifestyle possible. Serious adverse events included prolonged neutropenia (in two patients), hypertension (in one), central-venous-catheter–related infections (in two), Epstein–Barr virus reactivation (in one), and autoimmune hepatitis (in one).

Conclusions Gene therapy, combined with reduced-intensity conditioning, is a safe and effective treatment for SCID in patients with ADA deficiency. ( numbers, NCT00598481 [] and NCT00599781 [] .)

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Gene Therapy Works for Rare Immune Disorder

January 28, 2009

Gene Therapy Works for Rare Immune Disorder

By Todd Neale, Staff Writer, MedPage Today
Published: January 28, 2009
Reviewed by Dori F. Zaleznik, MD; Associate Clinical Professor of Medicine, Harvard Medical School, Boston. Earn CME/CE credit
for reading medical news
MILAN, Italy, Jan. 28 — A form of the rare “bubble boy disease” responds to gene therapy, with no long-term safety concerns, researchers said.

Action Points
* Explain to interested patients that this study found that replacing a defective gene provided improvements in the immune systems of almost all of the children with severe combined immunodeficiency caused by lack of adenosine deaminase.

All 10 children who had severe combined immunodeficiency (SCID) caused by lack of adenosine deaminase were still alive a median of four years after the gene for the missing enzyme was replaced, Maria-Grazia Roncarolo, M.D., of the San Raffaele Telethon Institute for Gene Therapy here, and colleagues reported in the Jan. 29 issue of the New England Journal of Medicine.

None of the patients developed leukemia, which has been a serious side effect in previous gene therapy studies in patients with X-linked SCID.

“Gene therapy restored normal immune function in five patients and resulted in significant improvement in lymphocyte counts and functions in the other five patients, leading to protection from infectious complications,” the researchers said.

SCID due to a deficiency of adenosine deaminase is fatal if left untreated. In affected patients, the build-up of compounds the enzyme is meant to break down impairs the proliferation of lymphocytes, which leaves the patient vulnerable to infection.

It can be treated by a hematopoietic stem cell transplant from an HLA-identical sibling — the treatment of choice — or enzyme-replacement therapy, although both treatments have limitations, according to the researchers.

A transplant from a sibling is available for only a minority of patients and enzyme-replacement therapy often does not sustain the correction of the immunodeficiency, they said.

A promising avenue of research is the use of gene therapy, in which the missing gene is transferred by way of a retroviral vector into hematopoietic stem cells harvested from the patient’s bone marrow. The cells are then re-infused into the patient.

Dr. Roncarolo and colleagues tried this approach with 10 children (six girls and four boys) ranging in age from about seven months to 5.6 years. They first went through nonmyeloablative conditioning with the chemotherapeutic agent busulfan.

Four of the patients had undergone a failed bone marrow transplant from a mismatched related donor and six had had an inadequate response to enzyme-replacement therapy. One had been diagnosed at birth and had not yet undergone any treatments.

Nine of the patients had at least some degree of immune reconstitution with significant increases in T-cell counts at one year (P=0.004) and three years (P=0.03) and normalization of T-cell function, the researchers said.

At one year, 88% of T cells, 52.4% of B cells, and 59.2% of natural killer cells contained the previously deficient enzyme.

Through the end of follow-up ranging from 1.8 to 8.0 years, eight of the patients no longer needed enzyme-replacement therapy and did not show signs of defective detoxification of purine metabolites. The other two patients initiated replacement therapy after gene therapy, one at 4.8 months and one at 4.5 years.

Five patients had T-cell counts within the normal range and four had B-cell counts within normal range.

Five patients demonstrated antibody responses after exposure to vaccine or viral antigens.

In addition, the researchers said, “most patients had abnormalities in neuropsychomotor development at onset that improved during the follow-up period.”

“Effective protection against infections and improvement in physical development made a normal lifestyle possible,” the researchers said.

Serious adverse events included neutropenia lasting longer than 30 days in two patients, hypertension in one patient, central venous catheter-related infections in two patients, Epstein-Barr virus reactivation in one patient, and autoimmune hepatitis in one patient.

None of the patients developed leukemia, unlike the quarter of X-linked SCID patients who develop the malignancy after gene therapy.

Donald Kohn, M.D., of the University of Southern California and Children’s Hospital Los Angeles, and Fabio Candotti, M.D., of the National Human Genome Research Institute in Bethesda, Md., speculated in an accompanying editorial that this discrepancy “may reflect important biologic differences between the corrected hematopoietic stem cells in X-linked SCID and SCID due to adenosine deaminase deficiency.”

They pointed out that the protein coded by the gene responsible for X-linked SCID “provides a proliferation signal that may cooperate with the concomitantly deregulated expression of a proto-oncogene in proximity to the gene-transfer vector-integration site, favoring the establishment of malignant cells.”

Drs. Kohn and Candotti said that the outcomes of this and other gene therapy trials “are at least as good as, and arguably better than, the results reported for allogeneic transplantation,” and that studies should continue on gene therapy.

Similar and newer approaches may be used for the treatment of hemoglobinopathies, hemophilia, muscular dystrophy, congenital retinopathies, neurodegenerative disorders, and other genetic diseases, they said.

The study was supported by grants from the Italian Telethon Foundation, the Association Francaise contre les Myopathies-Telethon, the independent drug research program of the Italian Medicines Agency, and the European Commission.

One of Dr. Roncarolo’s co-authors, Claudio Bordignan, M.D., reported being the chief of the board and CEO of MolMed, which manufactured the vector and engineered cells used in the study. He left the study when he became CEO.

The editorialists reported no conflicts of interest.

Primary source: New England Journal of Medicine
Source reference:
Aiuti A, et al “Gene therapy for immunodeficiency due to adenosine deaminase deficiency” N Engl J Med 2009; 360: 447-458.

Additional source: New England Journal of Medicine
Source reference:
Kohn D, Candotti F “Gene therapy fulfilling its promise” N Engl J Med 2009; 360: 518-521.

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Advanced Diagnostic Test for Severe Combined Immunodeficiency in Newborns

January 13, 2009

The Immune Tolerance Institute, Sequenom and the University of California, San Francisco to Develop Advanced Diagnostic Test for Severe Combined Immunodeficiency in Newborns
Tuesday, January 13, 2009; Posted: 04:05 PM

SAN FRANCISCO & SAN DIEGO, Jan 13, 2009 (BUSINESS WIRE) — SQNM | Quote | Chart | News | PowerRating — The Immune Tolerance Institute, Inc. (ITI), and Sequenom, Inc. (NASDAQ: SQNM), today announced a collaboration to develop an advanced newborn screening test for severe combined immunodeficiency (SCID) based on the pioneering work of Jennifer Puck, MD, of the University of California, San Francisco (UCSF). A successful feasibility study was recently completed demonstrating the adaptability of Dr. Puck’s RT-PCR screening assay for SCID diagnosis on the MassARRAY(R) platform developed by Sequenom.

“This collaboration goes to the very heart of ITI’s mission by bringing together the best of industry and academia in order to solve a complex medical problem,” said Dr. Louis Matis, ITI’s President and CEO. “Severe combined immunodeficiency is curable by bone marrow transplantation if it is detected early. The goal of our collaboration is to make newborn screening for this rare but deadly disease a reality and alleviate the terrible suffering for these infants and their families.”

“We are very pleased to collaborate with the Immune Tolerance Institute, UCSF and Dr. Puck to significantly improve outcomes for newborns afflicted with devastating SCID,” said Harry Stylli, Ph.D., President and CEO of Sequenom. “At Sequenom we are committed to developing cutting-edge diagnostic tools that will enable physicians to accurately detect serious genetic disorders as early as possible. This application is reflective of the broad applicability of our MassARRAY system and is in line with our goal of increasing Sequenom’s reach in the field of molecular diagnostics.”

“Although universal newborn screening for metabolic conditions is well established, screening for immune disorders is new,” said Dr. Puck, a Professor in the Department of Pediatrics and the Institute for Human Genetics at UCSF, and Program Director of the Pediatric Clinical Research Center within the UCSF Clinical and Translational Science Institute. “Immunologists and public health professionals have recognized the value of SCID screening, but a high-throughput, sensitive, specific and cost-effective test is needed. This collaboration between UCSF, ITI and Sequenom is an ideal way to translate my laboratory research on T-cell receptor excision circles into the clinic.”

Sequenom’s proprietary MassARRAY system is a high-performance DNA analysis platform that efficiently and precisely measures the amount of genetic target material and variations therein. The system is able to deliver reliable and specific data from complex biological samples and from genetic target material that is only available in trace amounts.

For further information on the SCID Screening Project at ITI, please visit or contact ITI at 650-328-8595.

About Severe Combined Immunodeficiency Disease

Severe combined immunodeficiency (SCID) is a spectrum of genetic disorders leading to profound immune system dysfunction. Without intervention, infants with SCID die of infections early in life. SCID infants treated with bone marrow transplantation before experiencing infections have a better than 95% chance of full recovery, whereas those treated after their health has been compromised by severe infections, have much greater morbidity and mortality. In the absence of screening for SCID, most cases are not diagnosed early; in fact, the exact incidence of the disease is unknown since death often occurs without a definitive diagnosis having been made.

About ITI

The Immune Tolerance Institute (ITI) is a 501(c)(3) non-profit organization founded in partnership with the University of California, San Francisco (UCSF) to fill critical unmet needs for translating fundamental scientific discoveries into new diagnostic tools and therapies for the broad range of diseases related to the human immune system, including autoimmune diseases, allergy, asthma, cancer, and cardiovascular and infectious diseases. ITI is a milestone and value-driven company uniquely positioned at the intersection of academia and biopharma that offers a comprehensive constellation of scientific and bio-pharmaceutical industry expertise and services to convert knowledge-based discoveries into market-accessible products for immune system related conditions. At the company’s Center for Critical Path Immunology, established as part of a recently announced collaboration with Beckman Coulter, Inc., multiple technology platforms are being deployed in integrated fashion to perform comprehensive cellular, molecular and immunological assays on specimens obtained from patients during clinical trials of emerging immunotherapeutics. The mechanistic data that are generated from these assays will be analyzed in parallel with clinical safety and efficacy data using cutting-edge bioinformatic approaches that leverage new insights at the nexus of emerging life science and information technologies. This approach to critical path science is designed to shorten development times, reduce both costs and failure rates in drug development and guide better informed patient selection for targeted therapies. The Institute is led by a management team with roots in both biomedical research and the biotechnology industry, and a board of directors including leaders in translational medicine. For more information, visit

About Sequenom

Sequenom is committed to providing the best genetic analysis products that translate the results of genome science into solutions for noninvasive prenatal and genetic diagnostics, biomedical research, translational research and molecular medicine applications. The Company’s proprietary MassARRAY system is a high-performance (in speed, accuracy and cost efficiency) nucleic acid analysis platform that quantitatively and precisely measures genetic target material and variations. The Company has exclusively licensed intellectual property rights for the development and commercialization of noninvasive prenatal genetic tests for use with the MassARRAY system and other platforms. For more information on Sequenom, please visit the company’s Web site at

Sequenom(R) and MassARRAY(R) are trademarks of Sequenom, Inc.

About UCSF

The University of California, San Francisco, UCSF, is a leading university dedicated to promoting health worldwide through advanced biomedical research, graduate-level education in the life sciences and health professions, and excellence in patient care. (

Safe harbor

Except for the historical information contained herein, the matters set forth in this press release, including statements regarding the expectations of, intentions of, goals of, and future impact of the collaboration to develop an advanced newborn screening test for SCID, and Sequenom’s goal of increasing its reach in molecular diagnostics, are forward-looking statements within the meaning of the “safe harbor” provisions of the Private Securities Litigation Reform Act of 1995. These forward-looking statements are subject to risks and uncertainties that may cause actual results to differ materially, including the risks and uncertainties associated with new technology and product development and commercialization particularly for new technologies such as molecular diagnostics, reliance upon the collaborative efforts of other parties such as ITI and UCSF, research and development progress, competition, intellectual property protection, government regulation, obtaining or maintaining regulatory approvals, and other risks detailed from time to time in the Company’s SEC (U.S. Securities and Exchange Commission) filings, including the Company’s Annual Report on Form 10-K for the year ended December 31, 2007 and other documents subsequently filed with or furnished to the SEC. These forward-looking statements are based on current information that may change and you are cautioned not to place undue reliance on these forward-looking statements, which speak only as of the date of this press release. All forward-looking statements are qualified in their entirety by this cautionary statement, and the Company undertakes no obligation to revise or update any forward-looking statement to reflect events or circumstances after the issuance of this press release.

SOURCE: Sequenom, Inc.

Immune Tolerance Institute, Inc. Louis A. Matis, M.D. 203-292-6940 or Rx Communications Group Eric Goldman (media) 917-322-2563 or Sequenom, Inc. Paul W. Hawran, Chief Financial Officer 858-202-9000 or Investor Relations Contact Lippert/Heilshorn & Associates Jody Cain / Kevin McCabe, 310-691-7100 or Media Relations Pure Communications Sheryl Seapy, 949-608-0841

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Sequenom joins with Immune Tolerance Institute to develop advanced newborn screening test

January 13, 2009

Sequenom joins with Immune Tolerance Institute to develop advanced newborn screening test – quick facts
1/13/2009 4:26 PM ET

(RTTNews) – Sequenom Inc. (SQNM: News ) said that it has entered into an collaboration with the Immune Tolerance Institute Inc. to develop an advanced newborn screening test for severe combined immunodeficiency based on the pioneering work of Jennifer Puck of the University of California, San Francisco.

A successful feasibility study was recently completed demonstrating the adaptability of Dr. Puck’s RT-PCR screening assay for SCID diagnosis on the MassARRAY platform developed by Sequenom.

Sequenom noted that its proprietary MassARRAY system is a DNA analysis platform that measures the amount of genetic target material and variations therein.

by RTT Staff Writer

For comments and feedback: contact

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Just the right bullets: using viruses to treat disease

January 9, 2009

Just the right bullets: using viruses to treat disease

Laurence O’Dwyer

Laurence O’Dwyer writes that while gene therapy has enormous promise, it also involves complicated ethical questions.

The concept of using gene therapy to treat diseases at their origin has long appealed to researchers and clinicians. With advances in the design of vectors that use viruses to inject genes into cells, gene therapy has the potential to treat a wide array of genetic disorders in the near future.

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document.write(‘<scr’+’ipt language=”javascript1.1″ src=”|3.0|289|1413727|0|277|ADTECH;loc=100;target=_blank;key=key1+key2+key3+key4;grp=’+window.adgroupid+’;misc=’+new Date().getTime()+'”></scri’+’pt>’);
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<a href=”|3.0|289|1413727|0|277|ADTECH;loc=300;key=key1+key2+key3+key4″ target=”_blank”><img src=”|3.0|289|1413727|0|277|ADTECH;loc=300;key=key1+key2+key3+key4″ border=”0″ width=”2″ height=”2″></a> Since the publication of On the Origin of Species in 1859, evolution and its flower, genetics, have wrapped themselves tightly around our perception of ourselves. Our 20,000 genes describe every detail of the cellular metropolis of the body, and the more we know about our genes, the more we can influence the goings on of the city.

A digital code

To begin at the beginning, we should say that our genes are made up of DNA, which is a digital code consisting of four bases – adenine, thymine, cytosine and guanine. Reams of this double-helix twist and turn like the whorls of a telephone cord inside our chromosomes.

The information in the helix can be read in segments called codons, and a gene is a series of codons. It is the confluence of parental genes in the embryo that produces the unique flow of each individual.

A perfect stream of DNA would produce a perfect biology but so far this has never been recorded. Our genes are damaged everyday by environmental elements such as sunlight, alcohol and stress. If the damage is not too severe, this wear and tear can be repaired by the body’s internal machinery.

However, beyond our control are inherited cellular catastrophes such as cystic fibrosis and muscular dystrophy — so-called monogenic diseases — caused by malfunctions in individual genes.

Success and failure

Ways of treating monogenic diseases by adding new genetic material into cells first began to be outlined in the late 1970s and since that time ‘gene therapy’ has gone through various waves of success and failure. While early research focussed on monogenic diseases, recent advances are now opening up the potential of gene therapy for common multi-gene disorders such as high blood pressure and diabetes.
The most common approach to gene therapy is to deliver a desired gene into target cells using a vector that is derived from a virus. Over millennia, viruses have developed efficient ways of reproducing by introducing genetic material into a host and forcing host cells to make viral proteins.

This hijacking of the cell’s machinery can be put to good use if the pathogenic genes in the virus are deleted and replaced with a therapeutic gene. The designed vector can therefore use cellular machinery to produce copies of a gene that is lacking in a particular disease.

The process of engineering such a vector is complex and obviously researchers must go to great lengths to prove that the wild-type pathogenic genes of a virus are completely crippled before they can be used as vectors.

Once stripped of its pathogenic genes, the virus must also retain the genes that enable it to infiltrate cells.

HIV is a retrovirus that is frequently used in gene therapy, owing partly to the fact that it has been studied extensively. A retroviral vector will insert its genes into the host’s DNA which means that when a cell divides, its daughter cells will also contain the therapeutic gene.

This long-term integration of the gene reduces the need for repeat applications of the vector.


Retroviruses have been used with some success in the treatment of a rare lethal disease called X-linked severe combined immunodeficiency (X-SCID) where the immune system is seriously compromised. To treat the disease, a vector is first used to introduce functioning copies of a gene into cultured stem cells that have been extracted from the patient’s bone marrow.

Stem cells are then transplanted back into the patient where they can now express the missing gene that produces the T-cells that are lacking in X-SCID.

A serious problem for retroviral vectors is that the genes are inserted into random positions in the host genome. If the insertion disrupts an important gene, such as one controlling cell division, then cancer can be triggered.

Zinc finger nucleases

Recent research has been assessing ways to overcome this problem by designing vectors that insert their genes into specific sites on a chromosome, using what are called zinc finger nucleases.

Another common type of virus used in gene therapy is the adenovirus. A vector engineered from an adenovirus does not integrate its genes into the host genome, but leaves them free in the nucleus.

This overcomes the problem of random insertion into the genome, but the disadvantage of this vector is that therapeutic genes are not passed on to daughter cells after cell division.

Multiple applications of the vector may be needed because of the short-term expression of the therapeutic gene.

Recent clinical trials in China have used an adenoviral vector to treat head and neck cancers where the p53 gene is known to be mutated in 60% of patients.

The p53 gene is critical for activating apoptosis which is a form of programmed cell death, a critical process for combating tumours. After a p53-carrying vector was injected directly into tumours once a week for eight weeks, the Chinese trial recorded complete regression of primary tumours in 64% of patients.

The treatment has now been approved for general use in China, but many researchers in Europe and America believe that larger clinical trials should be completed before full approval is granted.

Cystic fibrosis

With the advantages and disadvantages of different viral vectors, scientists are also engineering hybrids that combine the strengths of different viruses. In the case of cystic fibrosis where the lungs are clogged with mucous, the epithelial cells of the airways have proved difficult to target with a single vector. However, a controversial study at the University of Philadelphia created a vector using the envelope proteins of the Ebola virus together with parts of the HIV virus to target cultured airway cells.
As the envelope protein of Ebola binds strongly to cell-surface molecules in the airway epithelium, the hybrid succeeded in entering cultured airway cells as well as tracheal cells of mice. But despite the findings, concerns about the desirability of creating such a vector have largely halted research. Less controversial, and relatively common in gene therapy trials, are hybrids that use a lentivirus coated with the envelope proteins from a vesicular stomatitis virus. This vector can target an almost universal set of cells.

Clearly gene therapy has enormous promise. But its promise also carries a weight of questions for the future — such as what constitutes a normal or an abnormal genome, what restrictions should be placed on research, and to what extent every single fly in the amber of our genes should be taken out with these very expensive tweezers. It would be interesting to know what Darwin would make of the new technology. He was after all, not just a scientist, but a thinker, aware of the influence of his discoveries on his contemporaries.

A student of theology at Oxford, he struggled with his own conclusions about the evolutionary chain that echoes all the way back to our beginnings. But while DNA provides us with a link to our past and our future, we are unlikely to discover his views because, as one Nobel laureate remarked, no language has yet been invented that is comprehensible to both the living and the dead.

  • Laurence O’Dwyer
    holds a PhD in Neuroscience.
  • The views expressed above are those solely of the author(s) and in no way may be deemed to reflect the views or policy of either MSD Science Centre or Merck Sharp & Dohme Ireland (Human Health) Limited.

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Bone marrow transplant unit opens at Shifa International

January 6, 2009
Bone marrow transplant unit opens at Shifa International
Baitul Mal to contribute 300,000 for treatment of every patient
Tuesday, January 06, 2009

Shahina Maqbool
The Pakistan Baitul Mal will contribute Rs300,000 for treatment of every patient undergoing bone marrow transplant at Shifa International, the fund’s Managing Director Zamarud Khan announced at the inauguration of the hospital’s bone marrow transplant unit here on Monday.
The establishment of the unit, which is the first of its kind in the private sector in Punjab, the Northern Areas and Kashmir, was termed as a milestone in the history of Shifa. Prominent at the ceremony were the Ambassador of Italy Vicenzo Prati, the CEO and President of Shifa International Dr. Zaheer Ahmed, head of the oncology department Dr. M. Afridi, and consultant Oncologist Dr. Kamran Rashid.
Zamarud Khan and Vicenzo Prati performed the ribbon-cutting ritual in the presence of doctors, medical students, paramedics and members of the civil society.
Addressing the ceremony as chief guest, Zamarud complemented Shifa for taking the lead by establishing a bone transplant unit while the government is still planning for such facilities. He paid tributes to doctors who, rather than being enamoured by financial considerations abroad, return to Pakistan and serve their own people. He suggested the initiation of campaigns for the prevention and cure of cardiovascular diseases and hepatitis. “Should you take it up seriously, Bait-ul-Mal will provide the funds to run these projects as well,” he promised.
Vicenzo Prati said that being from a family of doctors, he realises the importance of healthcare. He said he was impressed by the cooperation and competitiveness of Pakistani doctors, and hoped to strengthen the existing level of cooperation between Pakistan and Italy in the field of healthcare in particular.
Dr. Zaheer Ahmed congratulated the team that worked on the project. He thanked cure2children for its support and confidence in opening such an important unit in the hospital; and Bestway Foundation for providing Rs37 million to Shifa for training of nurses.
Dr. M. Afridi appreciated the help provided by Khaild Zaman and Sadaf Khalid, whose daughter underwent bone marrow transplant in Italy, and cure2children, without whose help the task would have not been achieved. He informed that the government of Italy will sponsor treatment of six patients who undergo bone marrow transplant at Shifa International.
Bone marrow transplant is a procedure in which a healthy bone marrow is transplanted into a patient whose bone marrow is not working properly. “These healthy bone marrow cells can also be mobilized and collected from peripheral blood,” Dr. Kamran said. An estimated 138,530 people in an advanced country like the United States have been diagnosed with leukemia, lymphoma or myeloma in 2008. Every ten minutes, another child or adult is expected to die from leukemia, lymphoma or myeloma. This statistic represents nearly 145 people each day or six people every hour. Leukemia causes more deaths than any other cancer among children and young adults under the age of 20.
Bone marrow transplant in the US costs around US $250,000 and in the UK about £150,000. “In Pakistan, we hope to do it at the lowest possible cost, which may range between Rs1.5 and Rs2 million,” Dr. Kamran said. He shared that there are three types of transplants namely, autologous transplantation, allogeneic transplantation, and umbilical cord blood.
Highlighting the process of bone marrow transplant, Dr Kamran said that after taking the sample of bone marrow from the patient, the stem cells are harvested and then treated with agents that destroy leukemia cells without harming the bone marrow or stem cells. After this, the patient’s remaining bone marrow and leukemia cells are destroyed. The next phase involves injection of the bone marrow or stem cells into the patient.
Bone marrow deficiency disease is caused by abnormal red blood cell production, such as thalassemia or sickle cell disease and lack of normal blood cell production (aplastic anemia); immune system disorders (immunodeficiencies) such as congenital neutropsenia and severe combined immunodeficiency syndrome; and specific forms of cancer such as leukemias, lymphomas and myeloma.
The ceremony concluded with presentation of shields and bouquets to the chief guests as well as the team behind the initiative.

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