Beyond Achondroplasia

Growing together with Clara

ReACH Achondroplasia Registry

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ReACH is a project created for achondroplasia by Prof. Krejci research team.

“Prof. Krejci is doing research related to FGFR3 for more than 15 years, focusing in dissecting the mechanisms of fibroblast growth factor (FGF) signaling. His research team works in pathological FGF-receptor (FGFR) signaling in disease, namely the skeletal disorders caused by activating mutations in FGFR3 (hypochondroplasia, achondroplasia, thanatophoric dysplasia, SADDAN).

His studies encompass many different areas of the FGF field including expression of FGF ligands in vivo, mechanisms of FGF/FGFR-mediated regulation of cell function, molecular mechanisms of FGFR signal transduction, biochemistry of FGFR kinase activation, development of FGFR inhibitors, and others.

Although there is a potential treatment for achondroplasia under a clinical trial, there is no cure for achondroplasia. But scientists think there is a cure in sight. Prof. Krecji group collects and curates the information about achondroplasia.

The current lab projects related to achondroplasia address three important and poorly understood areas of FGFR3 function in chondrocytes:

(1) the composition of signaling complexes proximal to activated FGFR3 at the cell membrane,

(2) the nature of molecular effectors utilized by FGFR3 signaling to mediate specific cell functions

(3) the mechanisms by which FGFR3 regulates chondrocyte differentiation”.

 

A major goal of Prof. Pavel Krecji’s project is the Registry of Achondroplasia (ReACH), to collect and manage patient data and thus serve as a tool for clinical researchers as well as health care providers in the Czech Republic. This project is operational just in the Czech Republic, Slovak and Austria, but the goal is to extend to more countries. This is a magnificent project and Beyond Achondroplasia supports it in full.

“The Registry invites physicians to share their experiences and information concerning patient management. It also facilitates the potential recruitment of patients to achondroplasia clinical trials as well as helps scientists to better understand the clinical mechanisms, incidence, epidemiology and history of achondroplasia in the Central European region. Finally, the Registry allows patients and their families to provide feedback to the health care professionals regarding the quality of the care and how it can be improved. Therefore, please consider registering”.

Crucial point for Beyond Achondroplasia: “Never stop searching until a cure is found”.

Prof. Krejci’s team have the same motto. In is website:

“At the same time, it is imperative that scientists continue researching novel ways to inhibit FGFR3. This is simply because that, as with any drug, there is a risk that BMN111 will not be fully effective as an achondroplasia treatment, for instance because the patients will gradually become resistant to it. If we stop the research now, we may come up empty handed many years later when we might need an alternative to the BMN111 for achondroplasia therapy. Please see the ‘Research’ and ‘Blog’ sections of the web for updates on recent research concerning novel avenues of FGFR3 targeting as well as the progress of BMN111 clinical trials”.

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