If you are a Nurse, Doctor, Haemotologist or Paediatrician treating a new case of Fanconi Anaemia and would feel it beneficial to talk to a consultant with experience in treating 'FA' patients then this page is designed for you...

Listed below are Nurses, Doctors, Haemotologists, Paediatricians & Geneticists who all have experience treating 'FA' patients,
and all of them are willing to give valuble advice & time to aid you in giving your patient the best course of treatment available.

Here you can also find out about the progress being made in the area of 'FA' research with Progress in Fanconi Anaemia Research, there are also News Letters and Information from the meetings held in the US of all the specialists from all over the world.

• Progress in Fanconi Anaemia Research
• News Letters and Information
• Current Nurses to Contact
• Current Doctors to Contact
• Current Paediatricians to Contact
• Current Haemotologists to Contact
• Current Geneticists to Contact
• Genetic Research at Guy's Hospital

Progress in Fanconi Anemia Research
The Fanconi Anemia Research Fund raises money and awards grants for research. In the last six years, FA families and their supporters have raised nearly $3 million dollars for research. Their efforts have funded projects in 25 laboratories and seven countries. Research priorities are set jointly by the Board of Directors and its Scientific Advisory Board. Six of the laboratories initially supported by the Fund have obtained highly competitive multi-year awards for FA research from the National Institutes of Health. Progress continues rapidly with the financial support of thousands of patients, their relatives, and concerned benefactors.

Trials are underway to test various cell growth factors for the treatment of FA. Several new treatments for AML (acute myelogenous leukemia), an all-too-common development in FA patients, are being developed. An FDA-approved bone marrow transplant trial has been launched for FA patients who do not have a matched, related donor. A new FA Stem Cell repository for FA patients has opened at the University of Indiana School of Medicine.

We now know that there are at least eight FA genes (A through H). The C gene has been isolated and cloned, and a gene therapy trial for patients in that group is underway at the National Institutes of Health. The FA-A gene has also been isolated and cloned, and several mutations have been identified. The FA-D gene has been located, and should soon be isolated. Studies are underway in several laboratories to investigate the functions of the proteins encoded by the various FA genes.

The Fund convenes an annual international scientific symposium where FA researchers meet to discuss their research findings, and to form new collaborations with other laboratories. These interactions are vital to future progress in research.

News Letters & Information:
From Fanconi.org, this letter is in PDF ( Portable Document Format ) which can only be viewed using Adobe Acrobat Reader.

If you do not have this software installed on your computer then click here and download the software.
You will be asked to register before you will be allowed to download the software, this is FREE and no charge will be levied.

• Scientific News Letter No 30: ( for earlier news letters click this link to fanconi.org )
• Faconi Clinical Care.
• FA & Cancer Special Edition News Letter.
• Family News Letter No 31: (for earlier news letters click this link to fanconi.org )
• FA Family Handbook for Families and their Physicians also available in French ( be adviced this is a large download )

Current Nurses to Contact:

Bone Marrow Transplant Team, Birmingham Children's Hospital, Birmingham ( this team have allot of experience dealing with FA patients leading up to and after transplant )
Tel:0121 333 8677 ( this is an answer machine, but you will get a reply once the have received the message )

Current Doctors to Contact:

To be contacted first...

Current Haemotologists to Contact:

• Dr Inderjeet Dokal, Consultant Haemotologist, Hammersmith Hospital, London
  Tel: 020 8383 1000
• Dr Maurice Streven, Consultant Haemotologist, Walsgrave Hospital, Coventry
  Tel: 024 76602020

Current Paediatricians to Contact:

• Dr Phil Darbyshire, Consultant Paediatrician, Birmingham Children's Hospital, Birmingham ( Dr Darbyshire is a specialist in alternative transplant methods i.e. unrelated BMT transplants & unrelated Cord Cell transplants )
  Tel: 0121 333 9844 Office
  Tel: 0121 333 9282 / 9283 Department
  Email:[email protected]
  
• Dr Nigel Code, Consultant Paediatrician, Walsgrave Hospital, Coventry
  Tel: 024 7602020

Current Geneticists to Contact:

• Professor Christopher Matthews, Guys Hospital, London
  Tel: 020 7955 2527
  email:[email protected]

Fanconi Anaemia Research at Guy's Hospital:
Written By Christopher Matthew, Professor of Genetic Research at Guy's Hospital, London.

The Genetics Department at Guy's Hospital has been carrying out research on FA since 1990. Much of this time has been spent in searching for the FA genes. Our work, in collaboration with other European laboratories (especially in Amsterdam), led to the identification of the genes for FA groups A, E and F. Once these and other FA genes were identified, we used DNA sequencing techniques to screen the known FA genes for the genetic changes (mutations) that cause the gene to be faulty. We were able to build mutation "profiles" of the FA genes, which have helped laboratories around the world to set up DNA diagnosis for FA. We also carried a major pan-European survey of the relationship between FA complementation group and/or mutation type and disease severity. In our study there was a higher incidence of leukaemia and severe anaemia in FA-G, but we also found that mutations that completely "knock out" protein production from the FA-A gene are severe.

Our NHS Cytogenetics laboratory carries out routine tests for chromosome breakage to help doctors to confirm the diagnosis of FA, and also provides prenatal diagnosis for parents who wish to have their pregnancies tested for FA. Our NHS DNA laboratory can provide rapid prenatal diagnosis for FA families in whom the mutation is known. Our clinical genetics staff can provide genetic counselling about risks and options for FA families. Most recently, a significant part of our research has been focussed on trying to understand the function of the FA proteins (which are made from the FA genes). We have shown that each of the known FA proteins interacts directly with at least one of the other FA proteins, and they are therefore likely to function in a common pathway that is involved in the recognition or repair of damaged DNA.

The aims of our current research programme are as follows :

1. We are working closely with the laboratory of Dr Joenje in Amsterdam to find the FA genes for rare complementation that have not yet been identified. These include FA-B, and probably FA-I and FA-J. We have excluded several families from the FA groups where the genes have already been found, and DNA from these families is being tested with genetic markers from all the human chromosomes to locate the other FA genes. It is important to find the other genes not only for the families concerned, but also because they might provide critical insights into the cellular pathway that is disrupted in FA.
2. We are conducting an extensive survey of the health of FA gene carriers, especially in regard to the incidence of cancer. Although there are no obvious health problems in carriers, there have been suggestions in the past of a possible increase in risk of various forms of cancers, and it is important to clarify whether this is correct, and if so, what the risks are.
3. Our studies on the function of the FA proteins are currently directed at trying to identify other proteins in the cell that interact with the FA proteins, since this may provide vital clues as to function. Our preliminary data indicates direct interaction with at least two other proteins that are known to be involved in DNA repair.
4. We have been screening the FA genes for genetic changes in blood and bone-marrow from a large series of patients with acute myeloid leukaemia who do not have FA to see whether disruption of FA genes is relevant to this form of cancer in the general population. So far, we have found changes in a small proportion of cases.

Our research has been supported by funding bodies such as the Medical Research Council, the Leukaemia Research Fund, and Cancer Research UK. However, funding for rare disorders is difficult to obtain, and we are therefore very grateful for the money that has been raised by many individuals and families to support our work. These funds are used to buy small but important pieces of equipment, and to buy expensive chemicals such as enzymes and antibodies that are necessary for our work. This support has been of critical importance in lean periods to keep us going. Donations are administered through a registered charity called "The Generation Trust" (Charity Commissioners' Registration number 286964), which supports the work of our Genetics Department. Donations for FA research are placed in a separate budget for exclusive use by our group.

The road to an understanding of the disease process in FA and to finding effective treatments is long, and must be very frustrating for FA families. However, there has been huge progress in the past 10 years, and a large increase in the number of doctors and scientists involved in FA research and treatment. Hopefully this platform will lead to significant breakthroughs in treatment in the years ahead.

Christopher Mathew
Professor of Molecular Genetics Genetics Department,
Guy's Hospital Tel. 0207 955 2527
Fax 0207 955 4644
Email: [email protected]