Mon étoile filante - the Story of Mégane and Sabrina

Sabrina Durel has two children when she gives birth to Mégane. Last of the tribe, this child is blessed and the center of attention. But soon she shows difficulties in developing normally. This mother is determined to know what's wrong, after several tests the diagnosis falls: Mégane suffers from progeria, a genetic disorder responsible for accelerated aging that leads to early death. Sabrina will fight for her daughter by challenging hospitals and physicians across the Atlantic to get to the world center for the study of this disease that no one would recognize. She seeks hope for a cure and supports Mégane in an environment that excludes different beings. But the life of Mégane and Sabrina is not just a fight. It is certainly not easy, but full of joy and happiness, pushed to the extreme face of approaching death and the overwhelming desire to live.

available in French

telomeres and progerin

A new study was published today as early online edition of the JCI, Journal of Clinical Investigation. It concludes that in normal aging, short or dysfunctional telomeres stimulate cells to produce progerin, which is associated with age-related cell damage.

Researchers from the National Human Genome Research Institute, NIH, Bethesda, Maryland, and the Department of Cell Biology and Molecular Genetics, University of Maryland in the USA have discovered a previously unknown link between Progeria and aging. Their findings provide insights about the relationship between the toxic, Progeria-causing protein known as progerin and telomeres, which protect the ends of DNA within cells until they wear away over time and the cells die.

For the first time, we know that telomere shortening and dysfunction influences the production of progerin," says doctor Leslie B. Gordon, medical director of the Progeria Research Foundation. "Thus these two processes, both of which influence cellular aging, are actually linked."

Prior research has shown that progerin is not only produced in children with Progeria, but that it is produced in smaller amounts in all of us, and progerin levels increase with aging. Independently, previous research on telomere shortening and dysfunction has been associated with normal aging. Since 2003, with the discovery of the Progeria gene mutation and the progerin protein that causes the disease, one of the key areas of research has focused on understanding whether and how Progeria and aging are linked.

R.I.P Leon Botha - 4th June 1985 – 5th June 2011

Leon Botha, a South African artist, died on Sunday from complications related to progeria, a day after his 26th birthday. Botha was one of the longest-living persons documented with the Hutchinson-Gilford Progeria Syndrome.

In 2009, Leon worked with Gordon Clark on a photo series called Who Am I? Transgression, depicting him in theatrical projections of how society might see him. This exhibition still travels around the world. Leon also held a number of art exhibitions, and as a DJ he became widely known through his association with the band Die Antwoord.

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Leon Botha

Leon was an inspiration to many people, shared his wisdom and touched many hearts. He will live on through his art and music.

Nestors hope

Nestor and Guillermo are the first patients whose unknown aging disease is diagnosed with a new technique, based on a complete sequencing of the genome. With them begins a new era, which will bring remarkable changes in the approach of certain diseases, including some hitherto unnoticed for science. Carlos López-Otín tells their story (Spanish)

Rare Disease Day

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 patient organisations from more than 40 countries worldwide will be organising awareness-raising activities and converging around the slogan “Rare but Equal”. A multitude of events will draw attention to rare diseases and the millions of people who are affected by them.

See: Rare Disease Day 2011

"Race Against Time"

can treatment with IGF1 help children with progeria?

Carlos López Otín and his team observed that their progeroid mice had low levels of the hormone called IGF1.
They used recombinant IGF protein produced in the laboratory to treat the mice and the results were positive in terms of extension of longevity and improvement of progeria symptoms.
The improvement was clear and significant, but lower than that observed with the combination of statins and bisphosphonates which they reported two years ago in Nature Medicine and which has been the basis of the current clinical trial, first conducted by Dr. Nicolas Lévy in Marseille and adopted by the American Progeria Research Foundation in Boston.
The good thing is that additional - yet unpublished work - indicates that positive effects of IGF (albeit not so impressive) could be additive to the pharmacological treatment. Another good thing is that IGF1 has been widely used in children with Laron syndrome with no adverse effects.

Although this finding is interesting, researchers are very cautious regarding immediate translation of laboratory findings in animal models to patients. The option to add IGF to children treated with statins-bisphosphonates will be discussed, for the moment these children will have an adequate follow up of the current treatment that is offered in Marseille.

new development in research

The group of researchers led by Carlos Lopez Otin at the University of Oviedo, has found that insulin growth factor - or IGF1 - extends life in an animal model of human premature aging. The work was published yesterday.

The treatment developed by these researchers can extend a 25 percent longevity of mice with progeria. According to the authors, this represents an important step toward understanding the mechanisms involved in the development of this disease. In addition, it raises a new therapeutic option for patients affected by syndromes of accelerated aging, those who develop during the first years of life characteristic symptoms of old age: osteoporosis, loss of subcutaneous fat and hair, and cardiovascular failure, among others.The life expectancy of people with the most common form of progeria syndrome, Hutchinson-Gilford-is less than 20 years.

The scientists used genetically modified mice created previously in his laboratory. And they found that levels of a hormone known as insulin-like growth factor or IGF1 were abnormally low in these conditions. They decided to restore hormone levels, and treatment with IGF1 led to a marked improvement in various alterations in these mice, including weight gain, recovery of subcutaneous fat and locomotive ability, reduced hair loss and increased significant life expectancy.

According Otín, this paper raises an option "to improve the clinical situation and extend the life of those suffering from premature aging." In work previously published in Nature and Nature Medicine, the same researchers from the University of Oviedo reported that the accelerated aging was associated with abnormal activation of protective mechanisms against cancer and designed a pharmacological strategy aimed at blocking the accumulation protein responsible for this disease. This work has led to an international clinical trial, currently underway in Marseille, to treat children suffering from this dreadful disease.
spanish source

reunion 2010

In August 2010, 18 European families met in the UK for our annual progeria reunion. A week full of entertainment, joy, shared experiences and feelings. All children, including brothers and sisters, performed in a moving theatershow at our farewell party. Many thanks to all supporters who made this unforgettable happening possible!

progeria family circle

presentation EURORDIS - Rare Diseases Europe