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. 2021 Sep 28;16:400. doi: 10.1186/s13023-021-02023-9

Table 4.

MD’ self-assessment of their knowledge about RDs

N (%)
Do RDs constitute a serious public health issue?
 Definitely yes 42 (25.5)
 Yes 95 (57.6)
 No 18 (10.9)
 Definitely not 2 (1.2)
 I do not know 8 (4.8)
How would you rate your knowledge about rare diseases?
 Very good 1 (0.6)
 Fair enough 8 (4.8)
 Insufficient 98 (59.4)
 Very poor 58 (35.2)
Do you feel prepared for caring for a patient with a rare disease?
 Definitely yes 2 (1.2)
 Rather yes 6 (3.6)
 Rather not 77 (46.7)
 Definitely not 77 (46.7)
 I do not know 3 (1.8)
Would you like to broaden your knowledge about rare diseases?
 Yes 137 (83)
 No 11 (6.7)
 I do not know 17 (10.3)
Do you think that there should be a mandatory course on rare diseases in the medical curricula?
 Definitely yes 38 (23)
 Rather yes 88 (53.3)
 Rather not 27 (16.4)
 Definitely not 1 (0.6)
 I do not know 11 (6.7)
Did you/do you have any classes about rare disease during your studies?
 Yes 115 (69.7)
 No 39 (21.6)
 I do not know 11 (6.7)
Where do you/did you get your knowledge about rare diseases from?
 Mandatory courses at the university 77 (46.1)
 Facultative courses at the university 23 (13.8)
 Scientific literature and research 65 (38.9)
 Scientific conferences, symposia 36 (21.6)
 Internet 53 (31.7)
 Other 2 (1.2)
 I do not search for such information 0
Which physicians should be uniquely trained in RDs?
 Family physician 60 (36.4)
 Paediatrician 89 (53.9)
 Neurologist 53 (32.1)
 Geneticist 92 (55.7)
 Psychiatrist 18 (10.9)
 Immunologist 45 (27.3)
 Other 39 (23.6)
 Every physician regardless of their specialization 37 (22.4)