Part, Chapter, Paragraph
1 II, 5. 3. 8| a long list of distinct rare diseases, each requiring a different
2 II, 5. 3. 8| being one disease into many rare diseases, requiring each a different
3 II, 5. 5. 3| been included in both the ‘Rare Diseases’ and ‘Major and Chronic
4 II, 5. 5. 3| spectrum can be categorised as rare diseases, there is an argument for
5 II, 5. 11. 3| see also Chapter 7 on “Rare Diseases”).~ ~Skin cancers~Melanoma
6 II, 5. 15 | 5.15. RARE DISEASES~ ~
7 II, 5. 15.Acr| Disorders~OD~Orphan Drugs~RD~Rare Diseases~ ~
8 II, 5. 15. 1| 1978) stating that all rare diseases have common problems: a
9 II, 5. 15. 1| public health dimension of rare diseases was recognised by the European
10 II, 5. 15. 1| outpatient care.~ ~Most rare diseases are life-threatening and
11 II, 5. 15. 1| Dystrophy. Some other very rare diseases are known to the general
12 II, 5. 15. 1| 5 000 and 8 000 distinct rare diseases, affecting maybe around
13 II, 5. 15. 1| rare disease is limited, rare diseases collectively are a true
14 II, 5. 15. 2| are listing thousands of rare diseases: OMIM and Orphanet, plus
15 II, 5. 15. 2| Orphanet is a database of rare diseases which was established in
16 II, 5. 15. 2| Italian National Register Rare Diseases, which collects data from
17 II, 5. 15. 3| registries.~ ~Today, most rare diseases registries monitor a single
18 II, 5. 15. 3| evaluate the total burden of rare diseases on the population, it is
19 II, 5. 15. 3| systems that would include all rare diseases. For that purpose, a special
20 II, 5. 15. 3| specific list of 2 138 specific rare diseases subject to systematic registration
21 II, 5. 15. 3| main one is that not all rare diseases are included in the list.
22 II, 5. 15. 3| unmet medical needs”.~ ~Most rare diseases are mendelian genetic disorders
23 II, 5. 15. 3| recessively determined very rare diseases is therefore dependant on
24 II, 5. 15. 4| treat, prevent or diagnose rare diseases. Commission Regulation No
25 II, 5. 15. 4| to develop medicines for rare diseases. This committee is responsible
26 II, 5. 15. 4| Health established in 2004 a Rare Diseases Task Force to advise and
27 II, 5. 15. 4| on all issues related to rare diseases.~ ~In November 2008, the
28 II, 5. 15. 4| adopted a Communication on Rare Diseases: Europe’s challenges (available
29 II, 5. 15. 4| care, and research for rare diseases in Europe. It promotes the
30 II, 5. 15. 4| recognition and visibility of rare diseases; support policies on rare diseases
31 II, 5. 15. 4| rare diseases; support policies on rare diseases in the EU Member States;
32 II, 5. 15. 4| coordination, and regulation for rare diseases; ensure empowerment and
33 II, 5. 15. 4| European action in the field of rare diseases (COM(2008) 726 final). This
34 II, 5. 15. 4| Community action programme on rare diseases, including genetic diseases,
35 II, 5. 15. 4| protection in relation to rare diseases. As a first EU effort in
36 II, 5. 15. 4| information about these diseases. Rare diseases are still one of the priorities
37 II, 5. 15. 4| information networks on rare diseases, and the development of
38 II, 5. 15. 4| rare disease or a group of rare diseases (Cystic Fibrosis, Rare bleeding
39 II, 5. 15. 4| major diseases, including rare diseases to improve the prevention
40 II, 5. 15. 4| research resources for tackling rare diseases. The funded research projects
41 II, 5. 15. 5| at the European Council, rare diseases diagnosis and patient care
42 II, 5. 15. 5| services in the field of rare diseases, including the set up of
43 II, 5. 15. 5| The rise of attention for rare diseases is also witnessed by a recent
44 II, 5. 15. 5| partnership with National Rare Diseases Alliances have organised
45 II, 5. 15. 5| 2008 the First European Rare Diseases Day. The event (which will
46 II, 5. 15. 5| national initiatives on rare diseases.~(see: htt 93 and http ~ ~
47 II, 5. 15. 6| condemning the victims of rare diseases to death? A call for a national
48 II, 5. 15. 6| Lilitkarntakul P, Webb DJ (2006): Are rare diseases still orphans or happily
49 II, 5. 15. 6| networks of reference for rare diseases in Europe. Available At:~htt m (
50 II, 5. 15. 6| 05.2007)~Eurordis (2005): Rare diseases: understanding this public
51 II, 5. 15. 6| dozen years of treating rare diseases. N Engl J Med. 2006 Feb
52 II, 5. 15. 6| 445-7.~Holzman NA (1978): Rare diseases, common problems: recognition
53 II, 5. 15. 6| 604, 2007~NORD database of rare diseases. Available at: htt l (accessed
54 II, 5. 15. 6| 2007)~Orphanet database of rare diseases and orphan drugs. Available
55 II, 5. 15. 6| learned from studies on rare diseases and orphan drugs. J Intern
56 II, 6. 3. 7| filoviridae family. Both are rare diseases, but have potentially high
57 II, 9. 1. 2| public health agendas – rare diseases, peri-natal and child health,
58 II, 9. 1. 2| European information system for rare diseases. The added value of European
59 II, 9. 1. 2| or disease entities. Most rare diseases (see Chapter 5.15) are congenital.
60 II, 9. 5. 2| related Prevention Programme, Rare Diseases and Injuries and Accidents).~
61 III, 10. 2. 4| European Organisation for Rare Diseases~HiaP~Health in all Policies~
62 III, 10. 2. 4| Orphanet~European Database of Rare Diseases and Orphan Drugs~PHG~Public
63 III, 10. 2. 4| disorders (see Chapter 7 on Rare Diseases). These diseases are monogenic
64 III, 10. 2. 4| in European populations. Rare diseases require a specific infrastructure
65 III, 10. 2. 4| unjustified. Only in the field of rare diseases most of the arguments of
66 III, 10. 2. 4| special policy needs of rare diseases; further legislative work
67 IV, 11. 2. 2| health monitoring, injuries, rare diseases and pollution-related diseases.
68 IV, 12. 1 | quality of care, and research.~Rare diseases~The aim of the programme
69 IV, 12. 1 | programme was to develop work on rare diseases. Specific attention was
70 IV, 12. 4 | for example on tackling rare diseases;~· health technology assessment,
71 IV, 12. 10 | health and environment, rare diseases, quality of life of patients
72 IV, 12. 10 | adopted.~Draft programm on rare diseases is presently under public
73 IV, 13.Acr | health monitoring, injuries, rare diseases and pollution-related diseases.
74 IV, 13. 5 | for example on tackling rare diseases;~· health technology assessment,
75 Key, Ap5. 0. 0| radioactive~radon~rainfall~rare diseases~rash~recommendation~recovery~
