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FA Family News 3/01 FAMILY NEWSLETTER #29 A Semi-annual Newsletter on Fanconi Anemia for Families, Physicians, and Research Scientists Spring 2001 Researchers, treating physicians, and FA parents attended the FA Scientific Symposium in October. HIGHLIGHTS Fanconi Anemia Plan to Attend August Scientific Symposium Family Meeting! Discoveries Reported...................2 One hundred fifty-six researchers, Our 10th annual FA Family Meet- Gene Therapy Trial to Begin.......2 treating physicians, and fifteen FA par- ing is seven months away, but now is ents from fourteen countries met in the time to start planning. This year, Bone Marrow Transplant Conference Planned .................2 Amsterdam for the Twelfth Annual we will offer a limited number of schol- International FA Scientific Sympo- arships to help families defray travel Comparison Between sium, October 26-29, 2000. Coun- and lodging expenses (see article, p. 11). Complementation Group and Mutations, and Clinical tries represented were Tunisia, France, From August 10-14, 2001, FA fam- Outcomes...................................3 England, Canada, Spain, Italy, Ger- ilies, treating physicians, and research- many, Argentina, Israel, Japan, South ers will meet at the picturesque lake- Fludarabine-Based Regimen for Alternate Donor Hemato- Africa, Russia, The Netherlands and front setting of Aurora University’s poietic Cell Transplantation....4 the United States. Fifty-one scientists George Williams Lake Geneva cam- and treating physicians gave formal pus in Williams Bay, Wisconsin. We New Promising Vectors for presentations. Evaluations from atten- will learn from our experts, meet and Gene Therapy ............................4 dees confirmed, once again, that our share experiences with other FA fam- Preimplantation Genetic annual scientific meeting is an out- ilies, and relax. Lake Geneva is an easy, Diagnosis Articles .....................5 standing investment of our precious two-hour drive from Chicago’s O’Hare Medical Advice From our research dollars. airport, or a forty-five minute drive E-Mail Group..............................8 Research topics covered six areas: from the airports in Milwaukee or Family News....................................9 Gene Discovery and Regulation; Can- Madison, Wisconsin. cer and Leukemia; FA Protein Func- We will have two days of science Fundraising ...................................16 tion and Hematopoiesis; Mosaicism, and medical presentations on the continued on page 15 continued on page 14 MEDICAL NEWS Discoveries Reported Gene Therapy Trial to Begin Two articles concerning FA-relat- A clinical gene therapy trial for group A is currently being evaluated ed discoveries were published on Feb- Fanconi anemia will open shortly at for clinical use. ruary 23 in the journal, Molecular Cell. Indiana University in conjunction with The protocol will use retroviral gene “Positional Cloning of a Novel Fan- the recently formed International Col- transfer to place a normal FA gene into coni Anemia Gene, FANCD2” by laborative Fanconi Anemia Group. The blood-producing cells obtained from a Markus Grompe, Robb Moses, Alan institutions currently involved include patient’s bone marrow. Peripheral blood D’Andrea and collaborators describes Indiana University, the Fred Hutchin- and stored umbilical cord blood col- the identification of an FA gene which son Cancer Research Center, and St. lections may also be used as the source plays a crucial role in the FA gene path- Jude Research Hospital, as well as rep- of blood-producing cells. A retroviral way. FANCD2 is also the first FA gene resentatives from Brazil and Germany. marker vector will be transferred to a found to be conserved in lower ani- The FDA has approved the protocol, small portion of the blood-producing mal species and plants. The discovery and final modifications are now being cells. Participants in the clinical trial of FANCD2 now means that there are submitted. will be monitored closely for the trans- at least eight complementation groups. This is a pilot study to evaluate the fer of the FA gene into their blood cells. “Interaction of the Fanconi Ane- safety and feasibility of performing gene The fate of the cells corrected with the mia Proteins and BRCA1 in a Com- therapy on patients with Fanconi ane- normal FA gene and the marker vector mon Pathway” by Alan D’Andrea, mia. A retroviral vector for clinical use will be compared to determine the effi- Markus Grompe and collaborators, with the FA complementation group cacy of gene correction. The researchers states that the FANCA, FANCC, C gene has already been produced at hope that this approach may eventually FANCF, and FANCG proteins form the National Gene Vector Laboratory correct or prevent the bone marrow a complex in the nucleus of the cell. located at Indiana University. A retro- failure of Fanconi anemia. ◆ This complex is required for the acti- viral vector for the FA complementation vation of the FANCD2 protein. In normal, non-FA cells, the FANCD2 protein plays an important Bone Marrow Transplant Conference Planned role in DNA repair. In normal cells damaged by X-rays or other agents, FA bone marrow transplant experts not be open to observers. the FANCD2 protein is found in dis- from around the world will gather in Short presentations will be followed tinct spots (or foci) in the nucleus. Chicago on April 28, 2001, for a one- by panel discussions. Participants will These foci are not found in cells from day conference. Grover Bagby, Oregon cover the following topics: matched FA patients regardless of the comple- Health Sciences University and John sibling donor transplants; unrelated mentation group. Interestingly, the Wagner, University of Minnesota, have and related mismatched transplants; breast cancer protein 1 (BRCA1) is graciously donated their time to sources of stem cells (bone marrow, located with the FANCD2 protein in organize this meeting. The conference cord blood and peripheral blood stem these same foci after the same kinds of will include approximately twenty-four cells); and pre- and post-transplant DNA damage. The FANCD2 protein treating physicians who specialize in complications. The FA Research Fund therefore provides the missing link transplantation and its complications. is sponsoring this conference. We trust between the FA protein complex and The small number of attendees and that the sharing of information and the BRCA1 repair machinery. Dis- targeted focus of the meeting should opportunity for informal discussion ruption of this pathway results in the assure that this crucial topic is and debate will ultimately produce bet- cellular and clinical phenotype com- addressed comprehensively, with ter transplant outcomes. Our sincere mon to all FA complementation ample time for discussion. To encour- thanks to donor John Holmes of Ice groups. ◆ age open dialogue and a thorough Bear, Inc., for making this workshop exchange of ideas, this meeting will possible. ◆ 2 FA Family Newsletter Comparison Between Complementation Group Helmut Hanenberg, MD, and Mutations, and Clinical Outcomes Will Do Complemen- Christopher Mathew, PhD, Guy’s were more common in the rare groups tation Analysis for FA Hospital, London, and collaborators FA-D, FA-E, and FA-F. In FA-A, Families published an article in Blood, Decem- patients who inherited mutations from ber 15, 2000, on the association both parents which knocked out pro- Helmut Hanenberg will do com- between complementation group and tein production from the FANCA gene plementation analysis for all known mutation type and the clinical out- had an earlier onset of anemia and a complementation groups. Peripheral come in Fanconi anemia. The authors higher incidence of leukemia than blood is the easiest and quickest mate- studied 245 patients from all known those with mutations producing an rial to analyze, although he can use any complementation groups. Disease altered protein. In FA-C, there was a cell type that can be grown in culture. mutations were identified in 169 later age of onset of aplastic anemia Hanenberg recommends sending 8 - patients. The authors noted that FA- and fewer birth defects in patients with 12 mls of blood because of the long G patients had severe bone marrow the 322delG mutation; there were distance from the United States to Ger- failure and a higher incidence of more anomalies in patients with the many. There is a likelihood of greater leukemia. Birth defects or anomalies IVS-4 mutation. ◆ than 95 percent of finding the defec- tive gene using his method. At the pre- sent time, there is no cost for this ser- Four Patients Transplanted with Related, vice. For information on shipping and Mismatched Donors Do Well handling, contact: Dr. Helmut Hanenberg Farid Boulad, MD, Memorial- No patient has yet experienced acute or Department of Pediatric Sloan Kettering, reports that he has chronic graft-versus-host disease. The Hematology & Oncology, now transplanted four FA patients third patient had post-transplant com- Children’s Hospital, using related, mismatched donors. Two plications (CMV infection and EBV Heinrich Heine University were mismatched at two antigens; two lymphoma) which have been resolved. Moorenstr. 5 were mismatched at one antigen. For The number transplanted is very small 40225 Duesseldorf, Germany the first patient, this was a second and the time, post-transplant, for the e-mail: Helmut.Hanenberg@uni- transplant; for the subsequent three fourth patient is inadequate for a full duesseldorf.de patients, it was a first transplant. Dates evaluation. Nevertheless,
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