Rare Diseases, from A to Z. Volume 2

In collaboration with Plateforme Expertise Maladies Rares – Bourgogne-Franche-Comté, Prof. Laurence FAIVRE, Sonia GOERGER, Amandine BAURAND)

“Rare Diseases from A to Z blends art and science to illuminate often-overlooked conditions. Each letter, each illustration, each story is a step toward understanding, breaking isolation, and inspiring change. This is more than a book it’s an invitation to see, to learn, and to stand together.”

James A. Levine, MD, PhD
President, Fondation Ipsen

About the authors

With his vibrant palette of sunlit colors, refined ornamentation, and precisely structured geometric compositions, Matthieu Méron has found the perfect balance between classicism, Art Deco, and modern spontaneity.
Equally skilled in press illustration and comic art, he has a keen ability to capture the right detail in the moment, allowing him to work effortlessly across a wide range of subjects during live drawing sessions.
Born in Paris in 1981, Matthieu Méron decided early on that he wanted to pursue the same profession as Hergé when he grew up. Trained at ESAA Duperré and later at the Illustration workshop of the Strasbourg School of Decorative Arts, he regularly collaborates with the press (Télérama, XXI, Bayard Presse, and La Revue Dessinée) as well as in the field of communication.

Website: www.matthieumeron.com
Agent : www.patricia-lucas.com

The Platform of Expertise for Rare Diseases – Bourgogne-Franche-Comté (PEMR BFC) is one of the first PEMRs set up in France. The purpose of these platforms is to share expertise and to pool knowledge, skills and resources among different networks and accredited reference centers. This platform is coordinated by the Dijon Bourgogne University Hospital in partnership with the Besançon University Hospital. The two institutions conduct numerous shared projects in the field of rare diseases.

The PEMR BFC federates 11 Rare Disease Reference Centers (CRMR) and Resource and Competence Centers (CRC) and 101 Rare Disease Competence Centers (CCMR) belonging to 22 French Rare Disease Networks. The main objectives of the platform are to inform as many people as possible about rare diseases, to enable patients and their families to be directed to expert centers and to support them in their actions, to optimize the care paths in order to adapt them to each individual, to train professionals and to support clinical trials and research in the field of human and social sciences.
Website:  www.pemr-bfc.fr

With contributions from (in alphabetical order): Marie Bournez, pediatrician working in the genetics department; Estella Castillon, genetics resident; Julian Delanne, clinical geneticist; Laurence Faivre, clinical geneticist; Léa Gaudillat, genetic counselor; Camille Lenelle, genetic counselor; Julien Maraval, genetics resident; Benoit Mazel, clinical geneticist; Camille Montagne, genetic counselor; Sophie Nambot, clinical geneticist; Léa Patay, genetic counselor; Caroline Racine, clinical geneticist; Juliette Santenard, genetic counselor; Quentin Thomas, neurologist working in the genetics department.

Index

A. Cerebellar Ataxia
B. Brugada
C. Progressive Familial Intrahepatic Cholestasis
D. Duchenne muscular Dystrophy
E. Vascular Ehlers-Danlos Syndrome
F. Familial Mediterranean Fever
G Galactosemia
H. Hunter
I. Premature Ovarian Insufficiency
J. Jalili
K. Kennedy
L. Laparoschisis
M. Marfan
N. NF1
O. Osteogenesis Imperfecta
P. Autosomal Dominant Polycystic Kidney Disease
Q. Short QT
R. Hypophosphatemic Rickets
S. Tuberous Sclerosis Complex
T. Thalassemia
U. Familial Cold Urticaria
V. Von Hippel-Lindau
W. Williams
X. Fragile X
Y. Young-Simpson (also known as Odho)
Z. Zimmermann-Laband

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