Dr Anne Child invites you to adopt a scientist to help us continue our research into improved treatments for connective tissue disorders.
ADOPT A SCIENTIST
Imagine that your family are being stalked by a fatal illness, for which there is no known cause. Members die at any age, children included, suddenly with little or no warning.
Such a condition is inherited as enlargement and rupture of a weak-walled aorta — the largest blood vessel in the body, which carries blood from the heart to all areas of the body.
Yet treatment is available. Modern medicines and surgery are lifesaving. Research is ongoing to discover the genes responsible for this familial condition.
The first gene was discovered in 1991 and others have followed. However, the vast majority of such families (70%) still have no genetic cause identified.
The laboratory techniques for analysing DNA samples are well known in our Sonalee Laboratory, taught and practised by our Laboratory Director, Dr Jose Aragon-Marín PhD, Lecturer in Genomics at Queen Mary’s University of London, in the William Harvey Research Institute.
To encourage his research, Marfan Trust has, with the help of supporters’ donations, equipped his laboratory with the very latest DNA analysis machines.
Now, 20 large UK multi-generational families have volunteered to help in this project by giving blood samples from affected and unaffected members. It is our task to identify, amongst the 20,000 human genes, the one error carried by those affected. In the lab, we must prove that this gene is not carried by unaffected members of the same family.
This search aims to discover a further predicted 70 causative genes, one per family.
The families are waiting.
Some younger at-risk members are married and waiting to have their first baby, until the family mutation is discovered.
Additionally, once a gene is found, all family members can be tested simply to see if they are carrying the genetic error, diagnosed, and treated to prevent illness and death.
What do we need to proceed?
We need skilled scientists.
From his MSc course of over 150 students, Dr Jose Aragon-Marín is most impressed by a young scientist from Mexico, Miss Jessica Alvarez, who eagerly offered her help in the laboratory, learning techniques quickly and easily and understanding complicated analysis methods intuitively.
The Trustees of the Marfan Trust UK have voted to grant her a Brian Adams Memorial Studentship for two years in a row, and funded her to attend the American Society of Human Genetics Meeting in Boston 2025, to present her project regarding the most serious gene mutations in Marfan syndrome, which cause symptoms in newborn babies, resulting in early childhood death.
Student Jessica asked the question: why are these gene changes so severe? She has analysed the location and type of mutation within the Marfan gene (FBN1) and is publishing her work.
This year, 2026, she presented her research at the European Society of Human Genetics in June with the title “spatial interactions of the neonatal Marfan syndrome variants”.
Jessica entered Dr Aragon-Marín’s course with a BSc Degree (achieving 85.6%) and has won a first-class honours MSc degree. She graduates in September 2026.
She is planning to stay on to obtain a PhD degree in the same field.
Because she has shown such promise, Dr Aragon-Marín has asked the Marfan Trust to support her research for the next three years. The Trust has committed to funding her as a part-time laboratory assistant in the Sonalee Laboratory to support her project, which will analyse samples from 20 selected families.
These samples are already stored in our laboratory freezer, ready for analysis.
We ask your help to ADOPT A SCIENTIST.
Jessica is a personable, highly intelligent, enthusiastic, capable, motivated assistant. She already has important financial backing from the Mexican Government, who selected her for this sponsored degree programme at Queen Mary’s University of London.
Her fees (£35,000 per year) will be provided by the Mexican Government. Her living expenses and travel to conference will be covered by her annual salary pledged by the Marfan Trust from supporter donations.
For her first year, the total sum (including University overheads) is £57,255.00.
She further requires funds for laboratory consumables with which to perform DNA analysis. Applications to larger heart charities have been made for these necessary expenses.
Perhaps you are not rich? Few of us are! But perhaps you have friends who are? Or if you are interested in active fundraising, we have ideas and materials freely available:
https://www.marfantrust.org/pages/2-get-involved
What funds does Marfan Trust need to support Jessica’s First Year?
Year 1: September 1st 2026 – August 31st 2027
Salary: £54,755
Travel to Conference: £2,500
Total: £57,255
Every donation, no matter how small, will help us reach our target.
All funds donated will be held in a separate account and ringfenced for this project only.
Regular progress reports will be provided to all donors. Jessica’s CV is available upon request, and a video of her work in the laboratory is to be made available on our website.
https://www.marfantrust.org/pages/12-donate
HOW TO DONATE
By bank transfer to CAF bank
Account Name: Marfan Trust
Sort Code 40-52-40
Account number 00017677
Marfan Trust is a registered CIOCharity no. 1198847
By cheque made out to Marfan Trust
Address:24 Oakfield Lane, Keston, Kent BR2 6BY
Thank you
