progeria research paper

Advertisement

Progeria—a Rare Genetic Condition with Accelerated Ageing Process

• Review Article
• Published: 21 April 2022
• Volume 195 , pages 2587–2596, ( 2023 )

Cite this article

• Pratik Talukder   ORCID: orcid.org/0000-0003-2630-2392 1 ,
• Arunima Saha 1 ,
• Sohini Roy 1 ,
• Gargi Ghosh 1 ,
• Debshikha Dutta Roy 1 &
• Snejuti Barua 1  

1025 Accesses

4 Citations

Explore all metrics

Progeria is a rare genetic disease which is characterised by accelerated ageing and reduced life span. There are differing types of progeria, but the classic type is Hutchinson-Gilford progeria syndrome (HGPS). Within a year of birth, people suffering from it start showing several features such as very low weight, scleroderma, osteoporosis and loss of hair. Their life expectancy is highly reduced and the average life span is around 14.6 years. Research is going on to understand the genetic and molecular level causes of this disease. Apart from that, several studies are also going on to discover therapeutic techniques and drugs to treat this disease but the success rate is very low. To gain a better understanding about research developments of progeria more experimental models, drugs and molecular technologies are under trial. Different important aspects and recent developments in epidemiology, genetic causes, symptoms, diagnosis and treatment options of progeria are discussed in this review.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price includes VAT (Russian Federation)

Instant access to the full article PDF.

Rent this article via DeepDyve

Institutional subscriptions

Similar content being viewed by others

Epidemiology of Parkinson’s disease

“down syndrome: an insight of the disease”.

Aging and age‐related diseases: from mechanisms to therapeutic strategies

Data availability.

Not applicable.

Carvalho, V. O., Celli, A., BanckeLaverde, B. L., Cunico, C., Santos Piedade, G., Lucas de Mello, M., & Beirao Junior, P. S. (2016). Progeria and the early aging in children: a case report. Dermatology Online Journal, 22 (2), 13030/qt7kt4f85m.

Article   PubMed   Google Scholar  

Piekarowicz, et al. (2019). Hutchinson-Gilford progeria syndrome—current status and prospects for gene therapy treatment. Cells, 8 (2), 88. https://doi.org/10.3390/cells8020088 .

Article   CAS   PubMed   PubMed Central   Google Scholar  

Harhouri, et al. (2018). An overview of treatment strategies for Hutchinson-Gilford Progeria syndrome. Nucleus., 9 (1), 246–257. https://doi.org/10.1080/19491034.2018.1460045 .

Santiago-Fernández, et al. (2019). Development of a CRISPR/Cas9-based therapy for Hutchinson-Gilford progeria syndrome. Nature Medicine, 25 (3), 423–426. https://doi.org/10.1038/s41591-018-0338-6 .

Zhang, J., Lian, Q., Zhu, G., Zhou, F., Sui, L., Tan, C., Mutalif, R. A., Navasankari, R., Zhang, Y., Tse, H. F., Stewart, C. L., & Colman, A. (2011). A human iPSC model of Hutchinson-Gilford progeria reveals vascular smooth muscle and mesenchymal stem cell defects. Cell Stem Cell, 8 , 31–45.

Article   CAS   PubMed   Google Scholar  

Yang, S. H., Qiao, X., Fong, L. G., & Young, S. G. (2008). Treatment with a farnesyltransferase inhibitor improves survival in mice with a Hutchinson-Gilford progeria syndrome mutation. Biochimica et Biophysica Acta, 1781 (1-2), 36–39.

Hennekam, R. C. (2006). Hutchinson–Gilford progeria syndrome: review of the phenotype. American Journal of Medical Genetics. Part A, 140 (23), 2603–2624.

Satoh, M., Imai, M., Sugimoto, M., Goto, M., & Furuichi, Y. (1999). Prevalence of Werner’s syndrome heterozygotes in Japan. Lancet, 353 (9166), 1766.

Cerimele, D., Cottoni, F., Scappaticci, S., Rabbiosi, G., Borroni, G., Sanna, E., Zei, G., & Fraccaro, M. (1982). High prevalence of Werner’s syndrome in Sardinia. Description of six patients and estimate of the gene frequency. Human Genetics, 62 (1), 25–30.

Villa-Bellosta, R. (2019). New treatments for progeria. Aging (Albany NY), 11 (24), 11801–11802. https://doi.org/10.18632/aging.102626 .

Wenzel, V., Roedl, D., Gabriel, D., Gordon, L. B., Herlyn, M., Schneider, R., Ring, J., & Djabali, K. (2010). Naïve adult stem cells from patients with Hutchinson-Gilford progeriasyndrome express low levels of progerin in vivo. Biology Open, 1 , 516–526.

Article   Google Scholar  

Varela, I., Pereira, S., Ugalde, A. P., Navarro, C. L., Suárez, M. F., Cau, P., Cadiñanos, J., Osorio, F. G., Foray, N., Cobo, J., de Carlos, F., Lévy, N., Freije, J. M. P., & López-Otín, C. (2008). Combined treatment with statins and aminobisphosphonates extends longevity in a mouse model of human premature aging. Nature Medicine, 14 (7), 767–772.

Ullrich, N. J., Kieran, M. W., Miller, D. T., Gordon, L. B., Cho, Y. J., Silvera, V. M., Giobbie-Hurder, A., Neuberg, D., & Kleinman, M. E. (2013). Neurologic features of Hutchinson-Gilford progeria syndrome after lonafarnib treatment. Neurology, 81 (5), 427–430.

Ugalde, A. P., Ramsay, A. J., de la Rosa, J., Varela, I., Mariño, G., Cadiñanos, J., Lu, J., Freije, J. M., & López-Otín, C. (2011). Aging and chronic DNA damage response activate a regulatory pathway involving miR-29 and p53. The EMBO Journal, 30 (11), 2219–2232.

Toth, J. I., Yang, S. H., Qiao, X., Beigneux, A. P., Gelb, M. H., Moulson, C. L., Miner, J. H., Young, S. G., & Fong, L. G. (2005). Blocking protein farnesyltransferase improves nuclear shape in fibroblasts from humans with progeroid syndromes. Proceedings of the National Academy of Sciences of the United States of America, 102 (36), 12873–12878.

Sinensky, M., Fantle, K., Trujillo, M., McLain, T., Kupfer, A., & Dalton, M. (1994). The processing pathway of prelamin A. Journal of Cell Science, 107 , 61–67.

Silvera, V. M., Gordon, L. B., Orbach, D. B., Campbell, S. E., Machan, J. T., & Ullrich, N. J. (2013). Imaging characteristics of cerebrovascular arteriopathy and stroke in Hutchinson-Gilford progeria syndrome. AJNR. American Journal of Neuroradiology, 34 (5), 1091–1097.

Gordon, C. M., Gordon, L. B., Snyder, B. D., Nazarian, A., Quinn, N., Huh, S., Giobbie-Hurder, A., Neuberg, D., Cleveland, R., Kleinman, M., Miller, D. T., & Kieran, M. W. (2011). Hutchinson-gilford progeria is a skeletal dysplasia. Journal of Bone and Mineral Research, 26 (7), 1670–1679.

Scaffidi, P., & Misteli, T. (2008). Lamin A-dependent misregulation of adult stem cells associated with accelerated ageing. Nature Cell Biology, 10 (4), 452–459.

Scaffidi, P., & Misteli, T. (2005). Reversal of the cellular phenotype in the premature aging disease Hutchinson-Gilford progeria syndrome. Nature Medicine, 11 (4), 440–445.

McClintock, D., Ratner, D., Lokuge, M., Owens, D. M., Gordon, L. B., Collins, F. S., & Djabali, K. (2007). The mutant form of lamin A that causes Hutchinson-Gilford progeria is a biomarker of cellular aging in human skin. PLoS One, 2 (12), e1269. https://doi.org/10.1371/journal.pone.0001269 .

Merideth, M. A., Gordon, L. B., Clauss, S., Sachdev, V., Smith, A. C., Perry, M. B., et al. (2008). Phenotype and course of Hutchinson-Gilford progeria syndrome. The New England Journal of Medicine, 358 (6), 592–604.

Sinha, J. K., Ghosh, S., Swain, U., Giridharan, N. V., & Raghunath, M. (2014). Increased macromolecular damage due to oxidative stress in the neocortex and hippocampus of WNIN/Ob, a novel rat model of premature aging. Neuroscience, 269 , 256–264.

Luo, Y., Mitrpant, C., Adams, A. M., Johnsen, R. D., Fletcher, S., Mastaglia, F. L., & Wilton, S. D. (2014). Antisense oligonucleotide induction of progerin in human myogenic cells. PLoS One, 9 , 6.

Google Scholar  

Osorio, F. G., Navarro, C. L., Cadinanos, J., Lopez-Mejia, I. C., Quiros, P. M., Bartoli, C., Rivera, J., Tazi, J., Guzman, G., Varela, I., Depetris, D., de Carlos, F., Cobo, J., Andres, V., de Sandre-Giovannoli, A., Freije, J. M. P., Levy, N., & Lopez-Otin, C. (2011). Aging splicing-directed therapy in a new mouse model of human accelerated. Science Translational Medicine, 3 (106), 106ra107. https://doi.org/10.1126/scitranslmed.3002847 .

Harhouri, K., Navarro, C., Baquerre, C., Da Silva, N., Bartoli, C., Casey, F., Mawuse, G., Doubaj, Y., Lévy, N., & Sandre-Giovannoli, A. D. (2016). Antisense-based progerin down regulation in HGPS-like patients’ cells. Cells, 5 (31). https://doi.org/10.3390/cells5030031 .

Balmus, et al. (2018). Targeting of NAT10 enhances health span in a mouse model of human accelerated aging syndrome. Nature Communications, 9 (1), 1700. https://doi.org/10.1038/s41467-018-03770-3 .

Gordon, L. B., Rothman, F. G., López-Otín, C., & Misteli, T. (2014). Progeria: a paradigm for translational medicine. Cell., 156 (3), 400–407. https://doi.org/10.1016/j.cell.2013.12 .

Delbarre, E., Tramier, M., Coppey-Moisan, M., Gaillard, C., Courvalin, J. C., & Buendia, B. (2006). The truncated prelamin A in Hutchinson–Gilford progeria syndrome alters segregation of A-type and B-type lamin homopolymers. Human Molecular Genetics, 15 (7), 1113–1122.

Basso, A. D., Kirschmeier, P., & Bishop, W. R. (2006). Lipid posttranslational modifications. Farnesyl transferase inhibitors. Journal of Lipid Research, 47 (1), 15–31.

Mallampalli, M. P., Huyer, G., Bendale, P., Gelb, M. H., & Michaelis, S. (2005). Inhibiting farnesylation reverses the nuclear morphology defect in a HeLa cell model for Hutchinson-Gilford progeria syndrome. Proceedings of the National Academy of Sciences, 102 (40), 14416–14421.

Article   CAS   Google Scholar  

Yang, S. H., Meta, M., Qiao, X., Frost, D., Bauch, J., Coffinier, C., Majumdar, S., Bergo, M. O., Young, S. G., & Fong, L. G. (2006). A farnesyltransferase inhibitor improves disease phenotypes in mice with a Hutchinson-Gilford progeria syndrome mutation. The Journal of Clinical Investigation, 116 (8), 211521.

Capell, B. C., Olive, M., Erdos, M. R., Cao, K., Faddah, D. A., Tavarez, U. L., Conneely, K. N., Qu, X., San, H., Ganesh, S. K., & Chen, X. (2008). A farnesyltransferase inhibitor prevents both the onset and late progression of cardiovascular disease in a progeria mouse model. Proceedings of the National Academy of Sciences, 105 (41), 15902–15907.

Ibrahim, M. X., Sayin, V. I., Akula, M. K., Liu, M., Fong, L. G., Young, S. G., & Bergo, M. O. (2013). Targeting isoprenylcysteine methylation ameliorates disease in a mouse model of progeria. Science, 340 (6138), 1330–1333.

Varela, I., Pereira, S., Ugalde, A. P., Navarro, C. L., Suárez, M. F., Cau, P., Cadinanos, J., Osorio, F. G., Foray, N., Cobo, J., & De Carlos, F. (2008). Combined treatment with statins and amino bisphosphonates extends longevity in a mouse model of human premature aging. Nature Medicine, 14 (7), 767–772.

Ben Sahra, I., Regazzetti, C., Robert, G., Laurent, K., Le MarchandBrustel, Y., Auberger, P., Tanti, J. F., Giorgetti-Peraldi, S., & Bost, F. (2011). Metformin, independent of AMPK, induces mTOR inhibition and cell-cycle arrest through REDD1. Cancer Research, 71 (13), 4366–4372.

Kahan, B. D., Podbielski, J., Napoli, K. L., Katz, S. M., Meier-Kriesche, H. U., & Van Buren, C. T. (1998). Immunosuppressive effects and safety of a sirolimus/cyclosporine combination regimen for renal transplantation. Transplantation., 66 (8), 1040–1046.

Sinha, J. K., Ghosh, S., & Raghunath, M. (2014). Progeria: a rare genetic premature ageing disorder. The Indian Journal of Medical Research, 139 (5), 667–674.

CAS   PubMed   PubMed Central   Google Scholar  

Gordon, L. B., Kleinman, M. E., Miller, D. T., Neuberg, D. S., Hurder, A., Gerhard-Herman, M., et al. (2012). Clinical trial of a farnesyltransferase inhibitor in children with Hutchinson-Gilford progeria syndrome. Proceedings of the National Academy of Sciences, 109 (41), 16666–16671.

Scaffidi, P., & Misteli, T. (2006). Lamin A-dependent nuclear defects in human aging. Science., 312 (5776), 1059–1063.

Jung, H. J., Coffinier, C., Choe, Y., Beigneux, A. P., Davies, B. S., Yang, S. H., et al. (2012). Regulation of prelamin A but not lamin C by miR-9, a brain-specific microRNA. Proceedings of the National Academy of Sciences of the United States of America, 109 , E423–E431.

Manju, K., Muralikrishna, B., & Parnaik, V. K. (2006). Expression of disease-causing laminA mutants impairs the formation of DNA repair foci. Journal of Cell Science, 119 (Pt 13), 2704–2714.

Raffaele Di Barletta, M., Ricci, E., Galluzzi, G., Tonali, P., Mora, M., Morandi, L., et al. (2000). Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. American Journal of Human Genetics, 66 (4), 1407–1412.

Doh, Y. J., Kim, H. K., Jung, E. D., Choi, S. H., Kim, J. G., Kim, B. W., & Lee, I. K. (2009). Novel LMNA gene mutation in a patient with atypical Werner’s syndrome. The Korean Journal of Internal Medicine, 24 (1), 68–72.

Rodriguez, S., Coppede, F., Sagelius, H., & Eriksson, M. (2009). Increased expression of the Hutchinson-Gilford progeria syndrome truncated lamin A transcript during cell aging. European Journal of Human Genetics, 17 (7), 928–937.

De Sandre-Giovannoli, A., Chaouch, M., Kozlov, S., Vallat, J. M., Tazir, M., Kassouri, N., et al. (2002). Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse. American Journal of Human Genetics, 70 (3), 726–736.

Article   PubMed   PubMed Central   Google Scholar  

Young, S. G., Fong, L. G., Michaelis, S., & Prelamin, A. (2005). Zmpste24, misshapen cell nuclei, and progeria--new evidence suggesting that protein farnesylation could be important for disease pathogenesis. Journal of Lipid Research, 46 (12), 2531–2558.

Sun, et al. (2020). Vascular endothelium–targeted Sirt7 gene therapy rejuvenates blood vessels and extends life span in a Hutchinson-Gilford progeria model. Science Advances, 6 (8), eaay5556. https://doi.org/10.1126/sciadv.aay5556 .

Santiago-Fernández, et al. (2019). Single-dose CRISPR–Cas9 therapy extends lifespan of mice with Hutchinson–Gilford progeria syndrome. Nature Medicine, 5 , 423–426.

Huang, et al. (2005). Correction of cellular phenotypes of Hutchinson-Gilford Progeria cells by RNA interference. Human Genetics, 118 (3-4), 444–450.

Download references

Acknowledgements

The author sincerely acknowledges the University of Engineering and Management.

Materials Availability

Code availability, author information, authors and affiliations.

Department of Biotechnology, University of Engineering and Management, University Area, Plot, Street Number 03, Action Area III, B/5, Newtown, Kolkata, West Bengal, 700156, India

Pratik Talukder, Arunima Saha, Sohini Roy, Gargi Ghosh, Debshikha Dutta Roy & Snejuti Barua

You can also search for this author in PubMed   Google Scholar

Contributions

All the authors contributed equally.

Corresponding author

Correspondence to Pratik Talukder .

Ethics declarations

Ethical approval and consent to participate, consent for publication.

The authors give the consent for publication.

Competing Interests

The authors declare no competing interests.

Additional information

Publisher’s note.

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Reprints and permissions

About this article

Talukder, P., Saha, A., Roy, S. et al. Progeria—a Rare Genetic Condition with Accelerated Ageing Process. Appl Biochem Biotechnol 195 , 2587–2596 (2023). https://doi.org/10.1007/s12010-021-03514-y

Download citation

Received : 07 November 2020

Accepted : 18 January 2021

Published : 21 April 2022

Issue Date : April 2023

DOI : https://doi.org/10.1007/s12010-021-03514-y

Share this article

Anyone you share the following link with will be able to read this content:

Sorry, a shareable link is not currently available for this article.

Provided by the Springer Nature SharedIt content-sharing initiative

• Clinical trials
• Experimental models
• Translational
• Hutchinson-Gilford progeria syndrome (HGPS)
• Find a journal
• Publish with us
• Track your research

Progeria: From the unknown to the first FDA-approved treatment

“I want you to get to know me. This is my life. Progeria is part of it. It’s not a major part of it.” 

That is how then-15-year-old Sam Berns introduced the 2013 Oscar-nominated HBO documentary “ Life According to Sam .”

The film aimed to increase awareness of Hutchinson–Gilford progeria syndrome, a rare, fatal genetic disease that causes premature aging. It chronicles the inspiring journey of hope and resilience taken by Sam and his parents. It also documents the science and advocacy that ultimately resulted in the first FDA-approved treatment for progeria, which was approved late last year.

On Nov. 20, the Food and Drug Administration approved lonafarnib, which goes by the brand name Zokinvy. In trials, lonafarnib, a farnesyltransferase inhibitor, increased progeria patients’ lifespans by an average of 2.5 years .

“This is encouraging, as it sets a standard of care for progeria patients while we and other progeria researchers explore even better therapeutics leading to the cure,” said Mike Erdos, a staff scientist at the National Institutes of Health’s National Human Genome Research Institute.

The genetics and biochemistry

Infants born with progeria seem healthy at first. But they start aging at a pace 10 times faster than normal. Before age 1, weight gain slows, hair starts thinning and then falls out completely, joints may stiffen, and bones weaken. With time, blood vessels clog and connective tissue hardens. Many patients die of heart attack or stroke before they reach the age of 15.

The Progeria Research Foundation International Patient Registry currently identifies 131 children living with progeria worldwide . The foundation estimates that there may be as many as 250 patients around the world who still are undiagnosed.

Progeria is caused by the accumulation of progerin, an abnormally truncated form of the lamin A protein. A single mutation in the LMNA gene activates a rarely used alternative splice site, resulting in deletion of a chunk of the protein (50 amino acids, to be precise). The mutation is autosomal dominant; however, it is not found in the parents and likely arises spontaneously in a germ cell.

Lamin A is one of the key structural proteins that form the strong lipid and protein framework that holds the nuclear membrane of each cell nucleus together. Normally, lamin A undergoes post-translational modification, whereby it is first farnesylated and carboxymethylated, followed by enzymatic cleavage of the terminal 50 amino acids, including the farnesyl group.

However, in progeria, the shortened protein lacks the aforementioned cleavage site, leading to the accumulation of a permanently farnesylated, uncleaved lamin A (progerin) at the nuclear membrane, and this destabilizes the nuclear membrane.

A family matter

Dr. Leslie Gordon is a pediatric researcher at Brown University and a physician at Boston Children’s Hospital. Perhaps her most important credential: She is the mother of Sam Berns.

“When Sam was diagnosed, we dropped everything and tried to find resources. What we found was discouraging,” Gordon said. “We didn’t know the cause, the mutation. There was minimal research, no funding, no treatments, and families like us had no place to go for information.”

Gordon established The Progeria Research Foundation with her husband, Dr. Scott Berns , also a pediatric physician, in 1999, just a year after their son’s diagnosis, to fill this gap.

The foundation set up an international patient registry, established a cell and tissue bank to provide research materials, started a research-funding program, and created a progeria research consortium made up of scientists from around the world. One of the experts who joined the consortium was National Institutes of Health physician and geneticist Francis S. Collins.

From 1993 to 2008, Collins served as a director of the NHGRI. During that time, he oversaw the Human Genome Project, which culminated in the sequencing of the human genome in 2003.

That’s the same year that Collins’ research team, Leslie Gordon and other collaborators published the paper that described the genetic basis of progeria for the first time — they identified the cryptic splice site in the LMNA gene as causing progeria. The collaborators went on to generate a transgenic mouse model expressing the human progerin gene. The mouse model successfully replicates the cardiovascular defects and other features of the disease.

“We didn’t have any idea that finding the gene mutation would do what it’s done for us, but we knew it was very, very important,” Gordon told PLOS Blogs in 2012 .

Gordon set out to facilitate collaborations and spearheaded the start of a progeria natural history study at Boston Children’s Hospital to understand better the progression of the disease in these children, which eventually would lead to interventional clinical trials to test promising drugs to treat progeria.

Drug repurposing

The lipid-loving farnesyl group permanently attached to progerin makes the molecule stick onto the inner nuclear membrane. This leads to thickening of the lamina, altered chromatin organization, DNA damage, telomere shortening and mitochondrial dysfunction, hence the fast-paced premature aging seen in young patients.

As the farnesyl group in progerin is the predominant toxic ingredient, researchers zeroed in on treatments to block progerin farnesylation to prevent its attachment to the nuclear membrane. The drugs first were shown to work in cultured cells. Then Collins’ mouse model proved to be a vital tool to demonstrate their efficacy: The mice’s symptoms improved after treatment with certain farnesyl transferase inhibitors.

Serendipitously, researchers at Schering–Plough, now Merck, had been working for a decade with farnesyltransferase inhibitors as a potential treatment for childhood brain cancer, and the company supplied lonafarnib at no cost during clinical trials for progeria starting in 2007. “We got lucky because there was 10 years’ worth of pharmaceutical research into developing a drug that we asked to be moved over into the field of progeria,” Gordon told National Public Radio in 2012 .

Later, Eiger , a small biopharmaceutical company, reached out to Merck about adapting lonafarnib to treat hepatitis delta virus infection, another serious rare disease. Eiger then began a collaboration with the Progeria Research Foundation in 2018.

Leslie Gordon, who serves as medical director of the foundation, said that 2011 results showing that lonafarnib had a dramatic improvement on patients’ arterial pulse wave velocity , a predictor for cardiovascular risk, were a tipping point. She was the lead author on that paper in the journal Proceedings of the National Academy of Sciences.

Her son was one of the first children with progeria to receive the drug.

“This is a story that will be an example of genetic disease in many, if not all, human genetics courses in school,” Erdos at the NHGRI said.

Future directions

While lonafarnib relieves progeria’s cardiovascular symptoms and extends lifespan by almost 20% , it doesn’t alleviate other symptoms, such as lack of subcutaneous fat, hair loss, stunted growth and joint contractures.

Researchers pursuing second-generation drugs have a few avenues: small-molecule inhibitors that target progerin, RNA therapeutics that prevent the production of progerin, and genome editing to fix the mutation at the DNA level .

The development of the first treatment for progeria highlights the importance of basic research, collaboration between scientists and clinicians and, above all, the close involvement of patient-advocacy groups.

Gordon underscored that the pace of research, for rare diseases and everything else, is increasing rapidly. “Technology has advanced leaps and bounds in the last 20 years,” she said. “What we could achieve in months and years is now possible within weeks.”

Sam passed away at the age of 17 in 2014 from complications of progeria, but he left behind a legacy of love, hope and inspiration. “I didn’t put myself in front of you to have you feel bad for me,” he said in the film. “I put myself in front of you to let you know that you don’t need to feel bad for me.”

Enjoy reading ASBMB Today?

Become a member to receive the print edition monthly and the digital edition weekly.

Ankita Arora is an RNA-biologist-turned-freelance-science-writer. Her 12 years of experience in research and her storytelling skills help her distill science jargon into bite-size chunks that are fun to read. She aims to make science enjoyable and accessible for all.

Related articles

Get the latest from asbmb today.

Enter your email address, and we’ll send you a weekly email with recent articles, interviews and more.

Latest in Science

Science highlights or most popular articles.

What is metabolism

A biochemist explains how different people convert energy differently – and why that matters for your health.

What’s next in the Ozempic era

Diabetes, weight loss and now heart health: A new family of drugs is changing the way scientists are thinking about obesity — and more uses are on the horizon.

How a gene spurs tooth development

University of Iowa researchers find a clue in a rare genetic disorder’s missing chromosome.

New class of antimicrobials discovered in soil bacteria

Scientists have mined Streptomyces for antibiotics for nearly a century, but the newly identified umbrella toxin escaped notice.

New study finds potential targets at chromosome ends for degenerative disease prevention

UC Santa Cruz inventors of nanopore sequencing hail innovative use of their revolutionary genetic-reading technique.

From the journals: JLR

How lipogenesis works in liver steatosis. Removing protein aggregates from stressed cells. Linking plasma lipid profiles to cardiovascular health. Read about recent papers on these topics.

• Introduction to Genomics
• Educational Resources
• Policy Issues in Genomics
• The Human Genome Project
• Funding Opportunities
• Funded Programs & Projects
• Division and Program Directors
• Scientific Program Analysts
• Contact by Research Area
• News & Events
• Research Areas
• Research investigators
• Research Projects
• Clinical Research
• Data Tools & Resources
• Genomics & Medicine
• Family Health History
• For Patients & Families
• For Health Professionals
• Jobs at NHGRI
• Training at NHGRI
• Funding for Research Training
• Professional Development Programs
• NHGRI Culture
• Social Media
• Broadcast Media
• Image Gallery
• Press Resources
• Organization
• NHGRI Director
• Mission & Vision
• Policies & Guidance
• Institute Advisors
• Strategic Vision
• Leadership Initiatives
• Diversity, Equity, and Inclusion
• Partner with NHGRI
• Staff Search

About Progeria

Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging.

What do we know about heredity and progeria?

Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging. The condition, which derives its name from "geras," the Greek word for old age, is estimated to affect one in 4 million newborns worldwide.

The most severe form of the disease is Hutchinson-Gilford progeria syndrome, recognizing the efforts of Dr. Jonathan Hutchinson, who first described the disease in 1886, and Dr. Hastings Gilford who did the same in 1904.

As newborns, children with progeria usually appear normal. However, within a year, their growth rate slows and they soon are much shorter and weigh much less than others their age. While possessing normal intelligence, affected children develop a distinctive appearance characterized by baldness, aged-looking skin, a pinched nose, and a small face and jaw relative to head size. They also often suffer from symptoms typically seen in much older people: stiffness of joints, hip dislocations and severe, progressive cardiovascular disease. However, various other features associated with the normal aging process, such as cataracts and osteoarthritis, are not seen in children with progeria.

Some children with progeria have undergone coronary artery bypass surgery and/or angioplasty in attempts to ease the life-threatening cardiovascular complications caused by progressive atherosclerosis. However, there currently is no treatment or cure for the underlying condition. Death occurs on average at age 13, usually from heart attack or stroke.

In 2003, NHGRI researchers, together with colleagues at the Progeria Research Foundation, the New York State Institute for Basic Research in Developmental Disabilities, and the University of Michigan, discovered that Hutchinson-Gilford progeria is caused by a tiny, point mutation in a single gene, known as lamin A ( LMNA ). Parents and siblings of children with progeria are virtually never affected by the disease. In accordance with this clinical observation, the genetic mutation appears in nearly all instances to occur in the sperm prior to conception. It is remarkable that nearly all cases are found to arise from the substitution of just one base pair among the approximately 25,000 DNA base pairs that make up the LMNA gene.

The LMNA gene codes for two proteins, lamin A and lamin C, that are known to play a key role in stabilizing the inner membrane of the cell's nucleus. In laboratory tests involving cells taken from progeria patients, researchers have found that the mutation responsible for Hutchinson-Gilford progeria causes the LMNA gene to produce an abnormal form of the lamin A protein. That abnormal protein appears to destabilize the cell's nuclear membrane in a way that may be particularly harmful to tissues routinely subjected to intense physical force, such as the cardiovascular and musculoskeletal systems.

Interestingly, different mutations in the same LMNA gene have been shown to be responsible for at least a half-dozen other genetic disorders, including two rare forms of muscular dystrophy.

In addition to its implications for diagnosis and possible treatment of progeria, the discovery of the underlying genetics of this model of premature aging may help to shed new light on humans' normal aging process.

Is there a test for progeria?

A genetic test for Hutchinson-Gilford progeria syndrome, also called HGPS, is currently available. In the past, doctors had to base a diagnosis of progeria solely on physical symptoms, such as skin changes and a failure to gain weight, that were not fully apparent until a child's first or second year of life. This genetic test now enables doctors to diagnose a child at a younger age and initiate treatment early in the disease process.

This genetic test for Hutchinson-Gilford progeria syndrome also serves to reassure parents of affected children that their disorder stems from a sporadic genetic mutation and that therefore it is unlikely that any future offspring would have the condition.

To learn more about the genetic test for progeria, go to The Progeria Research Foundation Diagnostic Testing Program .

Additional Resources for Progeria Information

NIH Fact Sheet: Progeria

Medline Plus: Progeria

Genetics Home Reference: Hutchinson-Gilford progeria syndrome

The Progeria Research Foundation

GARD: Hutchinson-Gilford Progeria Syndrome

Last updated: December 27, 2013

• Today's news
• Reviews and deals
• Climate change
• 2024 election
• Fall allergies
• Health news
• Mental health
• Sexual health
• Family health
• So mini ways
• Unapologetically
• Buying guides

Entertainment

• How to Watch
• My Portfolio
• Latest News
• Stock Market
• Premium News
• Biden Economy
• EV Deep Dive
• Stocks: Most Actives
• Stocks: Gainers
• Stocks: Losers
• Trending Tickers
• World Indices
• US Treasury Bonds
• Top Mutual Funds
• Highest Open Interest
• Highest Implied Volatility
• Stock Comparison
• Advanced Charts
• Currency Converter
• Basic Materials
• Communication Services
• Consumer Cyclical
• Consumer Defensive
• Financial Services
• Industrials
• Real Estate
• Mutual Funds
• Credit cards
• Balance Transfer Cards
• Cash-back Cards
• Rewards Cards
• Travel Cards
• Personal Loans
• Student Loans
• Car Insurance
• Morning Brief
• Market Domination
• Market Domination Overtime
• Opening Bid
• Stocks in Translation
• Lead This Way
• Good Buy or Goodbye?
• Fantasy football
• Pro Pick 'Em
• College Pick 'Em
• Fantasy baseball
• Fantasy hockey
• Fantasy basketball
• Download the app
• Daily fantasy
• Scores and schedules
• GameChannel
• World Baseball Classic
• Premier League
• CONCACAF League
• Champions League
• Motorsports
• Horse racing
• Newsletters

New on Yahoo

• Privacy Dashboard

Yahoo Finance

First-ever treatment for ultra-rare rapid-aging disease progeria receives approval in japan.

The Progeria Research Foundation Marks Significant Achievement as Zokinvy™ (lonafarnib) Receives Japanese Approval for the Treatment of Progeria and Processing-Deficient Progeroid Laminopathies

PEABODY, Mass. , Jan. 20, 2024 /PRNewswire/ -- The Progeria Research Foundation (PRF) today announced a new milestone with the approval of Zokinvy™ (lonafarnib) by the Japanese Ministry of Health, Labor and Welfare (MHLW), for the treatment of Progeria and processing-deficient Progeroid Laminopathies (PL). Progeria is an ultra-rare, fatal pediatric "rapid-aging" disease. PRF, a pioneer in the rare disease research foundation space, has led Zokinvy clinical trial research since 2007. Eiger BioPharmaceuticals (Eiger) and PRF began a partnership in 2018 to bring this drug to market. Approval from the U.S. Food and Drug Administration (FDA) for Zokinvy was granted in November, 2020 and the European Medicines Administration (EMA) in July, 2022.

Zokinvy is a farnesyltransferase inhibitor (FTI) that has shown survival benefit in children with Progeria. Data based on information from the PRF International Patient Registry and clinical trials co-coordinated by PRF and Boston Children's Hospital (BCH) demonstrated that in patients with Progeria, Zokinvy reduced the incidence of mortality by 72% and increased average survival time by an average of 30% (4.3 years). Without Zokinvy treatment, children with Progeria die of heart disease at an average age of 14.5 years. Prevalence data from PRF's International Patient Registry indicate an expected 6 children with Progeria are living in Japan today.

"We're thrilled by this wonderful news," said Audrey Gordon , President and Executive Director of The Progeria Research Foundation. "On the heels of the 2020 FDA approval and the 2022 EMA approval for Zokinvy, now children and young adults with Progeria and PL in Japan will be able to access this life-extending, heart-strengthening treatment through the convenience of a prescription."

"Since co-founding The Progeria Research Foundation in 1999, we have poured our hearts and souls into the most promising research toward treatments and the cure for every child with Progeria," said Leslie Gordon , MD, PhD, PRF Medical Director and Zokinvy Clinical Trial Investigator. "After more than a decade of Zokinvy research funded by PRF and co-conducted by PRF and BCH, Zokinvy's authorization in Japan is a win for the worldwide Progeria community. Thank you to the courageous children, their families, and our many expert Progeria research teams and pharmaceutical partners who made this key milestone possible."

Over the course of its 24-year existence, PRF has made tremendous strides toward its mission to discover the cause, treatments and cure for Progeria. In partnership with the National Institutes of Health (NIH), PRF was the driving force behind the 2003 Progeria gene discovery. PRF holds bi-annual scientific workshops, funds research grants breaking new ground in areas such as RNA therapeutics and Genetic Base Editing, and funds clinical drug trials. PRF's core patient-focused programs include the Progeria International Patient Registry, Medical & Research Database, Cell & Tissue Bank, Diagnostics Testing Program, and a Clinical Care Handbook for families and physicians.

"After conducting 16 years of Progeria clinical trials at Boston Children's Hospital, this milestone demonstrates the positive impact of a dedicated research team, rigorous testing, and the steadfast bravery of the wonderful children and their families," said Dr. Monica Kleinman , Principal Investigator for the Progeria clinical trials at Boston Children's Hospital. "Being a part of this achievement for these children is not only professionally rewarding but also a testament to the transformative potential of scientific advancement in Progeria research."

About Progeria

Progeria, also known as Hutchinson-Gilford Progeria Syndrome (HGPS), and PL are ultra-rare, multisystemic, premature aging diseases that accelerate mortality in young patients due to accumulation of cellular progerin in HGPS or an abnormal lamin A protein in PL. Progeria is caused by a genetic mutation in the LMNA ("lamin A") gene, and results in a disease-causing abnormal protein called progerin . There are approximately 400-450 children worldwide with Progeria. Thanks to PRF-funded research, we now know that progerin is produced in all of us as we age, but at a much lower rate than in children with Progeria. Due to this discovery of the biological connection between Progeria, heart disease and aging, finding the cure for one of the rarest diseases on earth could provide keys for treating millions of adults with heart disease and stroke associated with the natural aging process, as well as help the entire aging population.

About The Progeria Research Foundation

The Progeria Research Foundation (PRF) was established in 1999 by the family of Sam Berns , a child with Progeria. Within four years of its founding, the PRF Genetics Consortium discovered the Progeria gene, a collaboration led by Dr. Francis Collins , Acting Science Advisor to the President of the United States and former Director of the National Institutes of Health (NIH). PRF has funded and co-coordinated all Zokinvy-associated clinical trials for Progeria and Progeroid Laminopathies, conducted at Boston Children's Hospital, and supports scientists who conduct Progeria research worldwide. PRF's International Patient Registry includes over 370 children with Progeria in 70 countries.

PRF is the only non-profit organization solely dedicated to finding treatments and the cure for Progeria and its aging-related conditions, including heart disease. The organization fills a void, putting these children and Progeria at the forefront of scientific efforts. For more information and to support PRF's mission, please visit www.progeriaresearch.org .

View original content to download multimedia: https://www.prnewswire.com/news-releases/first-ever-treatment-for-ultra-rare-rapid-aging-disease-progeria-receives-approval-in-japan-302039965.html

SOURCE Progeria Research Foundation

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

• View all journals
• Explore content
• About the journal
• Publish with us
• Sign up for alerts
• NATURE INDEX
• 01 May 2024

Plagiarism in peer-review reports could be the ‘tip of the iceberg’

• Jackson Ryan 0

Jackson Ryan is a freelance science journalist in Sydney, Australia.

You can also search for this author in PubMed   Google Scholar

Time pressures and a lack of confidence could be prompting reviewers to plagiarize text in their reports. Credit: Thomas Reimer/Zoonar via Alamy

Mikołaj Piniewski is a researcher to whom PhD students and collaborators turn when they need to revise or refine a manuscript. The hydrologist, at the Warsaw University of Life Sciences, has a keen eye for problems in text — a skill that came in handy last year when he encountered some suspicious writing in peer-review reports of his own paper.

Last May, when Piniewski was reading the peer-review feedback that he and his co-authors had received for a manuscript they’d submitted to an environmental-science journal, alarm bells started ringing in his head. Comments by two of the three reviewers were vague and lacked substance, so Piniewski decided to run a Google search, looking at specific phrases and quotes the reviewers had used.

To his surprise, he found the comments were identical to those that were already available on the Internet, in multiple open-access review reports from publishers such as MDPI and PLOS. “I was speechless,” says Piniewski. The revelation caused him to go back to another manuscript that he had submitted a few months earlier, and dig out the peer-review reports he received for that. He found more plagiarized text. After e-mailing several collaborators, he assembled a team to dig deeper.

Meet this super-spotter of duplicated images in science papers

The team published the results of its investigation in Scientometrics in February 1 , examining dozens of cases of apparent plagiarism in peer-review reports, identifying the use of identical phrases across reports prepared for 19 journals. The team discovered exact quotes duplicated across 50 publications, saying that the findings are just “the tip of the iceberg” when it comes to misconduct in the peer-review system.

Dorothy Bishop, a former neuroscientist at the University of Oxford, UK, who has turned her attention to investigating research misconduct, was “favourably impressed” by the team’s analysis. “I felt the way they approached it was quite useful and might be a guide for other people trying to pin this stuff down,” she says.

Peer review under review

Piniewski and his colleagues conducted three analyses. First, they uploaded five peer-review reports from the two manuscripts that his laboratory had submitted to a rudimentary online plagiarism-detection tool . The reports had 44–100% similarity to previously published online content. Links were provided to the sources in which duplications were found.

The researchers drilled down further. They broke one of the suspicious peer-review reports down to fragments of one to three sentences each and searched for them on Google. In seconds, the search engine returned a number of hits: the exact phrases appeared in 22 open peer-review reports, published between 2021 and 2023.

The final analysis provided the most worrying results. They took a single quote — 43 words long and featuring multiple language errors, including incorrect capitalization — and pasted it into Google. The search revealed that the quote, or variants of it, had been used in 50 peer-review reports.

Predominantly, these reports were from journals published by MDPI, PLOS and Elsevier, and the team found that the amount of duplication increased year-on-year between 2021 and 2023. Whether this is because of an increase in the number of open-access peer-review reports during this time or an indication of a growing problem is unclear — but Piniewski thinks that it could be a little bit of both.

Why would a peer reviewer use plagiarized text in their report? The team says that some might be attempting to save time , whereas others could be motivated by a lack of confidence in their writing ability, for example, if they aren’t fluent in English.

The team notes that there are instances that might not represent misconduct. “A tolerable rephrasing of your own words from a different review? I think that’s fine,” says Piniewski. “But I imagine that most of these cases we found are actually something else.”

The source of the problem

Duplication and manipulation of peer-review reports is not a new phenomenon. “I think it’s now increasingly recognized that the manipulation of the peer-review process, which was recognized around 2010, was probably an indication of paper mills operating at that point,” says Jennifer Byrne, director of biobanking at New South Wales Health in Sydney, Australia, who also studies research integrity in scientific literature.

Paper mills — organizations that churn out fake research papers and sell authorships to turn a profit — have been known to tamper with reviews to push manuscripts through to publication, says Byrne.

The fight against fake-paper factories that churn out sham science

However, when Bishop looked at Piniewski’s case, she could not find any overt evidence of paper-mill activity. Rather, she suspects that journal editors might be involved in cases of peer-review-report duplication and suggests studying the track records of those who’ve allowed inadequate or plagiarized reports to proliferate.

Piniewski’s team is also concerned about the rise of duplications as generative artificial intelligence (AI) becomes easier to access . Although his team didn’t look for signs of AI use, its ability to quickly ingest and rephrase large swathes of text is seen as an emerging issue.

A preprint posted in March 2 showed evidence of researchers using AI chatbots to assist with peer review, identifying specific adjectives that could be hallmarks of AI-written text in peer-review reports .

Bishop isn’t as concerned as Piniewski about AI-generated reports, saying that it’s easy to distinguish between AI-generated text and legitimate reviewer commentary. “The beautiful thing about peer review,” she says, is that it is “one thing you couldn’t do a credible job with AI”.

Preventing plagiarism

Publishers seem to be taking action. Bethany Baker, a media-relations manager at PLOS, who is based in Cambridge, UK, told Nature Index that the PLOS Publication Ethics team “is investigating the concerns raised in the Scientometrics article about potential plagiarism in peer reviews”.

How big is science’s fake-paper problem?

An Elsevier representative told Nature Index that the publisher “can confirm that this matter has been brought to our attention and we are conducting an investigation”.

In a statement, the MDPI Research Integrity and Publication Ethics Team said that it has been made aware of potential misconduct by reviewers in its journals and is “actively addressing and investigating this issue”. It did not confirm whether this was related to the Scientometrics article.

One proposed solution to the problem is ensuring that all submitted reviews are checked using plagiarism-detection software. In 2022, exploratory work by Adam Day, a data scientist at Sage Publications, based in Thousand Oaks, California, identified duplicated text in peer-review reports that might be suggestive of paper-mill activity. Day offered a similar solution of using anti-plagiarism software , such as Turnitin.

Piniewski expects the problem to get worse in the coming years, but he hasn’t received any unusual peer-review reports since those that originally sparked his research. Still, he says that he’s now even more vigilant. “If something unusual occurs, I will spot it.”

doi: https://doi.org/10.1038/d41586-024-01312-0

Piniewski, M., Jarić, I., Koutsoyiannis, D. & Kundzewicz, Z. W. Scientometrics https://doi.org/10.1007/s11192-024-04960-1 (2024).

Article   Google Scholar  

Liang, W. et al. Preprint at arXiv https://doi.org/10.48550/arXiv.2403.07183 (2024).

Download references

Related Articles

• Peer review
• Research management

Illuminating ‘the ugly side of science’: fresh incentives for reporting negative results

Career Feature 08 MAY 24

Algorithm ranks peer reviewers by reputation — but critics warn of bias

Nature Index 25 APR 24

Researchers want a ‘nutrition label’ for academic-paper facts

Nature Index 17 APR 24

Structure peer review to make it more robust

World View 16 APR 24

Is ChatGPT corrupting peer review? Telltale words hint at AI use

News 10 APR 24

Mount Etna’s spectacular smoke rings and more — April’s best science images

News 03 MAY 24

How reliable is this research? Tool flags papers discussed on PubPeer

News 29 APR 24

2024 Recruitment notice Shenzhen Institute of Synthetic Biology: Shenzhen, China

The wide-ranging expertise drawing from technical, engineering or science professions...

Shenzhen,China

Shenzhen Institute of Synthetic Biology

Head of Operational Excellence

In this key position, you’ll be responsible for ensuring efficiency and quality in journal workflows through continuous improvement and innovation.

United States (US) - Remote

American Physical Society

Rowland Fellowship

The Rowland Institute at Harvard seeks outstanding early-career experimentalists in all fields of science and engineering.

Cambridge, Massachusetts

Rowland Institute at Harvard

Postdoctoral Fellowship: Chemical and Cell Biology

The 2-year fellowship within a project that will combine biochemical, cell biological and chemical genetic approaches to elucidate migrasome biology

Umeå, Sweden

Umeå University

Clinician Researcher/Group Leader in Cancer Cell Therapies

An excellent opportunity is available for a Group Leader with expertise in cellular therapies to join the Cancer Research program at QIMR Berghofer.

Herston, Brisbane (AU)

QIMR Berghofer

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Quick links

• Explore articles by subject
• Guide to authors
• Editorial policies

History has been made, with every child in the first-ever Progeria clinical drug trial showing improvement in one or more areas of their condition, proving that the FTI drug lonafarnib is the first known, effective treatment for children with Progeria.

Click here for your free copy of the clinical trial results paper

Megan and Meghan were the first two children to enroll in the trial. The two girls met in Boston every four months for two years, for testing, to receive new drug supply, and to play together! Here they are in December 2008, on a break from tests at Boston Children’s’ Hospital.

FOR MEDIA:  click here for the press release, b-roll and other press details.

The results of the first-ever clinical drug trial for children with Progeria are in and it’s official!   Lonafarnib, a type of farnesyltransferase inhibitor (FTI) originally developed to treat cancer, has proven effective for Progeria. Every child showing improvement in one or more of four ways: gaining additional weight, better hearing, improved bone structure and/or, most importantly, increased flexibility of blood vessels. Results of the study, which was funded and coordinated by The Progeria Research Foundation , were published September 24, 2012 in Proceedings of the National Academy of Sciences .

Gordon et. al., Clinical Trial of a Farnesyltransferase Inhibitor in Children with Hutchinson-Gilford Progeria Syndrome, PNAS, October 9, 2012 vol. 109 no. 41 16666-16671

Natsuki, from Japan, with her brother, father and mother who prepares the lonafarnib-liquid sweetener mixture.

Results Yield Improvements in All Children Twenty-eight children from sixteen countries participated in the 2 ½ year drug trial, representing 75 percent of known Progeria cases worldwide at the time the trial began. The children traveled to Boston every four months to receive comprehensive medical testing and study medications through Boston Children’s Hospital’s Clinical and Translational Study Unit . All received oral lonafarnib, an FTI supplied by Merck & Co., twice-a-day for two years, under the supervision of clinical trial chair Mark Kieran, M.D., Ph.D., Director of Pediatric Medical Neuro-oncology at the Dana-Farber / Children’s Hospital Cancer Center, and co-chairs Dr. Monica Kleinman and Dr. Leslie Gordon

Rate of weight gain was the primary outcome measure, because children with Progeria experience severe failure to thrive, with a very slow linear rate of weight gain over time. The researchers examined many other areas of the body, including arterial stiffness (a predictor of heart attack and stroke), bone rigidity (an indicator of bone strength) and hearing. “When we started this clinical trial we had no idea whether any aspect of Progeria would be reversible, because no one had ever conducted a clinical treatment trial for Progeria before.  We discovered that, among other things, the major blood vessels can actually improve.  This was a breakthrough discovery for the children, since accelerated cardiovascular disease is the cause of death in Progeria. Though there is no way to know whether we have delayed strokes, heart attacks, or increased longevity within just a 2-year treatment period, these positive results compel us to continue pushing for new treatments until we accomplish what we set out to do in 1999. We want children with Progeria to live until they’re 80 and beyond. We want them to live full, healthy lives,” said Dr. Gordon, PRF’s Medical Director and first author of the treatment discovery paper.

Record Pace of Progress

The treatment discovery comes less than a decade after PRF and now National Institutes of Health Director Dr. Francis Collins joined forces to identify the cause of Progeria – an unheard of timeline in the world of medical research!  But for PRF and children with Progeria, who live to an average age of just 13 years, such speed is vital to win this race against time.

Mateo, Milagros and Fernando are all smiles upon receiving awards from PRF at their final visit. The trophies say, “YOU DID IT! You finished the 1st Progeria Trial – You’re A SUPERSTAR!”

“PRF is a good example of an organization successfully enabling translational research, moving from gene discovery to clinical treatment at an unprecedented pace,” said Dr. Kieran. “From 1999, when the organization was founded, to today, PRF has identified the genetic mutation that causes the disease, funded preclinical research, completed this trial, initiated a second trial, and is currently working with our team at Boston Children’s Hospital to plan yet another trial with drugs that, like FTIs, have shown exciting results in Progeria cells and animal models. That’s an awesome track record of accomplishment.

WE AGREE! How Did We Get to This Wonderful Day? Following the 2003 discovery of the gene mutation that causes Progeria , PRF-funded researchers identified FTIs as a potential drug treatment. The Progeria-causing mutation leads to the production of the protein progerin , which damages cell function. Part of progerin’s toxic effect on the body is caused by a molecule called a “farnesyl group,” which attaches to the progerin protein and helps it damage the body’s cells. FTIs act by blocking the attachment of the farnesyl group onto progerin, reducing the harm progerin causes.

For more study details, CLICK HERE for the press release

Progeria Linked to Normal Aging Process Research shows that the Progeria-causing protein progerin is also produced in the general population and increases with age. Researchers plan to continue exploring the effect of FTIs, which may help scientists learn more about the cardiovascular disease that affects millions, as well as the normal aging process that affects us all.

“Connecting this rare disease and normal aging is bearing fruit in an important way…valuable biological insights are gained by studying rare disorders such as Progeria. Our sense from the start was that Progeria had a lot to teach us about the normal aging process.” – Dr. Francis Collins, Director of the National Institutes of Health

What a smile! Maria really enjoyed painting during one of her breaks from testing at Boston Children’s Hospital.

Help Us Find All Children With Progeria so They, Too, Can Benefit From Our Work Researchers believe that at any given time, there are 200-250 children living with Progeria. To identify unknown children, PRF launched the “Find the Other 150” campaign in October 2009, and as of September 2012, we know of 96 children living in 35 countries- an 83% increase!! You can help find more so they can benefit from the unique treatment and care that PRF provides. These new children may be eligible for future clinical trials, so please go to Find the other 150  to find out how you can help make that happen.

Thank you ALL – We Couldn’t Have Done it Without You! One of the main reasons we achieved breakthrough results in this first trial is because of the tremendous supporters who provided funding and other support, helping to get us one step closer to achieving our ultimate goal – a cure for Progeria. Click here to see a special tribute to all those who helped make the dream of a treatment a reality .