UK & Ireland Fanconi Anaemia Family/Clinical Network

Congratulations to Simon Boulton, a researcher at Cancer Research UK’s London Research Institute and a member of our UK & Ireland FA Research Network, who has been awarded the 2011 European Molecular Biology Organisation (EMBO) Gold Medal.

Simon, who works at Cancer Research UK’s Clare Hall Laboratories in Hertfordshire and is one of the UK’s key researchers in Fanconi Anaemia, has been chosen to receive the award in recognition of his groundbreaking work on DNA repair mechanisms. more

Fanconi Hope was invited to exhibit at the Royal Holloway (University of London) Rare Disease Day Conference on Mon 28th Feb. Programme of Events

About Rare Disease Day: Patient groups, health professionals, researchers and their collaborative partners – coordinated by national alliances – are working together to organise a multitude of public events to draw attention to rare diseases and the millions of people who are affected by them. The campaign aims to promote the inclusion of rare diseases in the Third EU Public Health Programme, which will decide the policy and funding priorities in the years ahead.

The Fanconi Hope Stand in the Exhibition Hall

This important reminder was posted on the FARF Bulletin Board last week by Tersa Kennedy, the Director of Family Support Services at the Fanconi Anemia Research Fund:

“Dear Friends:

As you’ll read in our upcoming FA Family Newsletter (to be mailed at
the end of March), Dr. Eunike Velleuer reports that of the 370 FA
patients she and Ralf Dietrich have interviewed, 85% admitted that they
were not screened regularly for oral lesions that may be a sign of head
and neck cancer.

Why? Human nature, i.e., reluctance, procrastination, or lack of
information, might account for much of this non-compliance.

In an effort to continue to educate FA patients and their families about
the significant increased risks of head and neck cancer in FA, this
email is a reminder of the need for aggressive surveillance. As taken
directly out of our handbook, Fanconi Anemia: Guidelines for Diagnosis
and Management (page 255):

“Surveillance should begin by the ages of 10 – 12 years …on a
semiannual basis by an experienced professional; i.e., an ear, nose and
throat specialist, an oral surgeon or other doctor experienced in head
and neck cancer detection and treatment. Since head and neck cancer in
patients with FA commonly occurs in the oral cavity, the surveillance
approach should focus on this region. However, as part of the routine
screening, a flexible fiberoptic examination should be performed which
includes evaluation of the nasopharynx, oropharynx, hypopharynx, and
larynx. The use of routine esophagoscopy for screening is not mandated,
but should be considered in any patient with odynophagia, dysphasia or
other localizing symptoms…”

While the minimum recommendation for head and neck cancer screening is
twice per year, if you notice any questionable areas ever, you should
have them examined immediately and not limit the screening to twice per
year.

Just as important is a reminder that drinking alcohol and using tobacco
products can significantly increase the risk of oral cancers. We
encourage FA patients to consider the consequences before drinking and
smoking.

It is also recommended that you give copies of our handbook (referenced
above) to the physicians and dentists who care for FA patients to help
educate them. We just received our 2011 International Treatment and
Testing Resource Guide from the printer which lists among other
specialties, head and neck cancer doctors familiar with FA. These
doctors are willing to consult with and answer questions from families
or other physicians. If you would like extra copies of our handbook or
our resource guide, please let me know.

Sincerely,

Teresa
Teresa Kennedy
Director, Family Support Services

Fanconi Anemia Research Fund”

Genetic Alliance  UK have received a request from EURORDIS for a child to write about their condition as the introduction to a children’s pack on Rare Disease Day. They would like a first-hand account of why Rare Disease Day is so important. Why it is important for other children to know about his/her rare disease. His/her suggestions for what children, and/or a school class can do for rare disease day. We are working on the principle of each member of the class choosing a disease, researching it and giving a short talk to the class on 28 Feb about their “chosen” disease.

If anyone would be interested in writing a short piece about this please can you get in contact with Helen Lea on:

Rare Disease Day is an annual, awareness-raising event co-ordinated by EURORDIS at the international level and National Alliances of Patient Organisations at the national level

February 28th 2011 will mark the fourth International Rare Disease Day coordinated by EURORDIS and organised with rare disease national alliances in 25 countries. On that day hundreds of patient organisations from more than 40 countries worldwide will be organising awareness-raising activities and converging around the slogan “Rare but Equal”.

Hundreds of patient groups and their partners, coordinated by national alliances at the country level, are planning a multitude of events to draw attention to rare diseases and the millions of people who are affected by them. Awareness-raising activities are being planned across Europe, all the way to Russia, Georgia and Armenia, as well as in the US, Canada and as far as Australia, New Zealand, China and Japan!

More about Rare Disease Day

Breakthrough in Fanconi Anaemia research

A group led by KJ Patel from the LMB, together with collaborators at the Wellcome Trust Sanger Institute and CRUK Cambridge Research Institute (CRI), have developed the first model for the human genetic illness Fanconi Anaemia (FA). This genetic condition results in abnormal development, bone marrow failure and a huge lifetime risk of developing cancer. At present the only long-term treatment for FA is bone marrow transplantation. The mouse model will allow scientists to study further the molecular basis of this disease at the whole organism level and allow them to work on novel therapies for FA. more

Woman’s Hour on 1st Feb featured the Matthews Family from Norfolk whose daughter Megan with FA has had a successful ‘saviour sibling’ bone marrow transplant from her baby brother.

The programme includes an interview with the parents and a subsequent discussion with the head of the Human Fertilisation and Embryology Authority and an ethics lecturer from the University of East Anglia. You can listen to the programme here: http://www.bbc.co.uk/programmes/b007qlvb/episodes/2011

Molecular biologist Dr Spencer Collis and Consultant Neurosurgeon Mr Thomas Carroll have received funding from Yorkshire Cancer Research to try to uncover a new way of treating brain tumours by capitalising on their knowledge of Fanconi Anaemia to increase the effectiveness of  current chemotherapy drugs. More

This story was on  BBC TV and Radio news tonight and will be in the Daily Mail tomorrow (Wed 22nd Dec) BBC Website

See also press release on Care Fertility Website

International Fanconi Anaemia Gene Therapy Working Group -  “a real platform for the accelerated development of collaborative clinical studies.”

November 16th saw the first meeting of an International Fanconi Anaemia Gene Therapy Working Group, organised and funded by the Fanconi Hope Charitable Trust working in association with the British  Society for Gene Therapy and the Fanconi Anemia Research Fund (FARF). This meeting, hosted by Prof Adrian Thrasher at the Institute of Child Health and ably chaired by Prof Jakub Tolar from the University of Minnesota, brought together 14 leading Gene Therapy and Fanconi Anaemia experts from across the globe to create an action plan for gene therapy trials in Fanconi Anaemia. The need to run trials collaboratively stems from the very rare nature of the condition, since individual countries have insufficient patient bases.
After many hours of productive and intellectually stimulating discussion on topics such as vector design, transduction, trial design, ethics, safety and toxicology and finally application processes and centre selection the attendees agreed that there was a basis for moving to an internationally coordinated set of gene therapy trials such that data from clinical trials set up under different regulatory systems in different countries can be shared.
What happens next is of course key to the success of the project. Formal minutes with details of the action plan will be circulated shortly by Prof Tolar and it was agreed within the meeting that notwithstanding interim actions, the Group should reconvene formally in 12 months time. The Fanconi Anemia Research Fund has suggested that the next meeting of the group may be organised to coincide with its 23rd Annual Scientific Symposium in Barcelona next autumn.

Prof Thrasher, Chairman of the BSGT said afterwards that the meeting was “a real platform for the accelerated development of collaborative clinical studies.”
Fanconi Hope would like to thank all the participants from the UK, Europe and the US for lending their support to this ground-breaking project, to Prof Thrasher for hosting and Prof Tolar for chairing the meeting and to Bev Mayhew the Executive Director of FARF for her strong support and FARF representation at the meeting.

Attendees at the meeting  (in alphabetical order)

Dr Michael Antoniou
Head of Nuclear Biology Group
King’s College London School of Medicine
Department of Medical and Molecular Genetics, Guy’s Hospital
London,
UK

Dr Cynthia Bartholomä
Division of Translational Oncology
National Center for Tumor Diseases , Heidelberg
German Cancer Research Center
GERMANY

Dr Juan Bueren
Head of the Hematopoietic Gene Therapy Division.
CIEMAT, Madrid
SPAIN

Prof Marina Cavazzana-Calvo
Hopital Necker-Enfants Malades, Biotherapy Department, Paris
FRANCE

Mr Thomas Carroll
Chairman – Fanconi Hope Charitable Trust,
Consultant Neurosurgeon
Lead Clinician, Department of Neurosurgery, Royal Hallamshire Hospital, Sheffield,
UK

Mr Bob Dalgleish
Secretary, Fanconi Hope Charitable Trust
UK

Dr Anne Galy
Head of Immunology and Gene Therapy Group,
GENETHON,
Evry 
FRANCE

Prof Helmut Hanenberg
Department of Pediatric
Hematology & Oncology,
Children’s Hospital,
Heinrich Heine University
Duesseldorf,
GERMANY
and Riley Hospital for Children, Indianapolis
USA

Prof Hans-Peter Kiem
Professor of Medicine / Adjunct Professor of Pathology
University of Washington School of Medicine,
Seattle
USA

Mrs Bev Mayhew
Executive Director
Fanconi Anemia Research Fund
USA

Prof Luigi Naldini
Director,
San Raffaele Telethon Institute for
Gene Therapy, Milan
ITALY

Dr Raffaele Renella
Fellow in Pediatric Hematology/Oncology
Children’s Hospital – Dana-Farber Cancer Institute
Harvard Medical School, Boston
USA

Dr Paula Rio
Gene Therapy Researcher
CIEMAT
Madrid
SPAIN

Dr Julian Sevilla
Gene Therapy Researcher
CIEMAT
Madrid
SPAIN

Prof Adrian Thrasher
Consultant in Paediatric Immunology
Wellcome Trust Senior Clinical Fellow
NIHR Senior Investigator
Centre for Immunodeficiency
Molecular Immunology Unit
Institute of Child Health
London
UK

Prof Jakub Tolar
Division of Hematology-Oncology and Blood and Marrow Transplantation
University of Minnesota Medical School
USA

Prof Els Verhoeyen
Ecole Normale Supérieure de Lyon
Unité de Virologie Humaine
FRANCE