1. Rare diseases: past achievements and future prospects

   • Birute Tumiene
   • Ulf Kristoffersson
   • Helena Kääriäinen

   Editorial 04 May 2021 Pages: 205 - 206

2. Shaping national plans and strategies for rare diseases in Europe: past, present, and future

   • Victoria Hedley
   • Valentina Bottarelli
   • Domenica Taruscio

   Original Article Open access 05 May 2021 Pages: 207 - 216

   

3. European Reference Networks: challenges and opportunities

   • Birute Tumiene
   • Holm Graessner
   • Nicoline Hoogerbrugge

   Original Arrticle 17 March 2021 Pages: 217 - 229

4. Rare disease care pathways in the EU: from odysseys and labyrinths towards highways

   • Birute Tumiene
   • Holm Graessner

   Original Article 18 March 2021 Pages: 231 - 239

5. Our greatest untapped resource: our patients

   • Matt Bolz-Johnson
   • Tom Kenny
   • Ines Hernando

   Original Article 21 April 2021 Pages: 241 - 246

6. Improving diagnostics of rare genetic diseases with NGS approaches

   • Mateja Vinkšel
   • Karin Writzl
   • Borut Peterlin

   Original Article Open access 15 January 2021 Pages: 247 - 256

7. Neonatal and carrier screening for rare diseases: how innovation challenges screening criteria worldwide

   • Martina C. Cornel
   • Tessel Rigter
   • Lidewij Henneman

   Original Article Open access 19 October 2020 Pages: 257 - 265

8. Curative gene therapies for rare diseases

   • Rocio Maldonado
   • Sami Jalil
   • Kirmo Wartiovaara

   Original Article Open access 15 August 2020 Pages: 267 - 276

   

9. Clinical genetics in transition—a comparison of genetic services in Estonia, Finland, and the Netherlands

   • T. Vrijenhoek
   • N. Tonisson
   • T. Rigter

   Original Article Open access 11 March 2021 Pages: 277 - 290