https://doi.org/10.37815/rte.v37n1.1282
Original articles
Treating rare diseases with justice:
Implications of a human rights-based approach
Tratamien=
to de
las enfermedades raras con justicia: Implicaciones de un enfoque basado en
derechos humanos
Stéphanie Dagron1 https://orcid.org/0000-0001-7075-44=
47
=
1Faculty of Law, Faculty of Medicine, Global Studies Institute,
University of Geneva, =
Geneva,
Switzerland
Sent:Â Â Â Â Â 2025/02/10
Accepted:Â Â Â Â Â Â 2025/06=
/03
Published: Â Â Â Â Â 2025/06=
/30Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â Â =
Abstract
The importance of health for social justi=
ce
has increased since the end of the 20th century, particularly following the
recognition in the 1995 Copenhagen Declaration that "people are entitl=
ed
to a healthy and productive life in harmony with the environment."
However, a majority of people worldwide still do not enjoy good health.
Numerous efforts have been made by the international community to address t=
his
situation in line with the principles of equity and social justice. The age=
nda
2030 serves as a remarkable example of these efforts, positioning health at=
the
centre of the program, acknowledging the existence of social determinants of
health, and affirming the necessity to tackle the causes of health inequiti=
es
and attend to the needs of disadvantaged groups. Individuals with rare dise=
ases
face specific risks and challenges primarily due to unmet health needs stem=
ming
from a lack of research and development of suitable medical technologies. In
this article, we explore the reasons explaining the injustices faced by the=
se
patients, as well as ways in which a human rights-based approach to people =
with
rare diseases can provide arguments in favour of
States' action. By considering the right to science as a complementary righ=
t to
the right to health, we argue that States must promote the science for trea=
ting
rare diseases and render applications of science accessible and affordable,
thereby contributing to the realisation of a ju=
st and
equitable society.
Summary: Introductio=
n, Methodology: analys=
is approach, Findings and Discussion, =
Conclusions. How to cite: Dagron, S. (2025). Treating rare diseases with
justice: Implications of a human rights-based approach. Revista
Tecnológica - Espol, 37(1), 104-120. https://rte.espol.edu.ec/index.php/tecnologica/article/view/1282=
<=
i>Keywords: A=
ccess to
health products, health equity, right to health, right to science, social
justice.
Resumen
La importancia de la salud par=
a la
justicia social ha aumentado desde finales del siglo XX, en particular tras=
la
Declaración de Copenhague de 1995: “las personas tienen derecho a una vi=
da sana
y productiva en armonÃa con el medio ambienteâ€. La mayorÃa de las perso=
nas en
el mundo aún no gozan de buena salud. La comunidad internacional ha realiz=
ado
esfuerzos para abordar esta situación, según los principios de equidad y
justicia social. La Agenda 2030 constituye un ejemplo de estos esfuerzos, al
situar la salud en el centro del programa, reconocer la existencia de los
determinantes sociales de la salud, afirmar la necesidad de abordar las cau=
sas
de las inequidades en salud y atender las necesidades de los grupos desfavo=
recidos.
Las personas con enfermedades raras enfrentan riesgos y desafÃos especÃfi=
cos,
principalmente debido a las necesidades de salud insatisfechas derivadas de=
la
falta de investigación y desarrollo de tecnologÃas médicas adecuadas. En=
este
artÃculo, se exploran las razones que explican las injusticias a las que se
enfrentan estos pacientes, asà como las maneras en que un enfoque hacia las
personas con enfermedades raras basado en los derechos humanos puede
proporcionar argumentos a favor de que los Estados actúen. Al considerar a=
la
ciencia como un derecho complementario del derecho a la salud, se argumenta=
que
los estados deben promover el progreso cientÃfico para tratar las enfermed=
ades
raras y hacer que las aplicaciones de la ciencia sean accesibles y asequibl=
es,
contribuyendo asà a la creación de una sociedad justa y equitativa.
Introduction
R=
are
diseases are "life-threatening or chronically debilitating diseases&qu=
ot;
(Council Recommendation, 2009, para. 1), resulting in high mortality rates =
and
socioeconomic inequalities (Halley et al., 2023). Historically, the challen=
ges
faced by both the patients living with them and their families have rarely =
been
viewed through the lens of social justice. This is surprising, considering =
the
significant impact of such diseases on patients' quality of life and social
well-being, as reported by patients themselves (Buckle, 2024), and the fact
that the needs of these patients are largely ignored in almost all national
health systems. Traditionally, indeed, health systems have prioritised heal=
th
for all through the development of services and goods designed to address
"the main health problems in the community" (Declaration of Alma =
Ata,
1978). Rare diseases, however, do not feature as one of a community's main
health challenges. They are first characterised by a very low prevalence at=
a
country level. In the United States of America (US) and Japan, for example,=
a
rare disease is one that does not affect more than 200,000 (around 6 per
10,000) (Rare Disease Act, 2002) or 50,000 (around 4 per 10,000) (Japan
Pharmaceutical Manufacturers Association, 2020) of the total population, re=
spectively;
in Europe, a disease is considered rare when it affects no more than five
persons per 10,000 people (Regulation (EC) No 141/2000, 1999). Secondly, ra=
re
diseases are characterised by a high level of complexity. Most rare diseases
are genetically related, but others, such as rare cancers, rare immune-rela=
ted
diseases, and rare poisonings, can be a result of "environmental expos=
ure
during pregnancy or later in life" (EESC, 2009, para. 3.1.4), including
exposure to hazards in the workplace (Charbotel=
et
al., 2014).
<= o:p>
Treating rare diseases with justice means first acknowledging the particularities of the individuals concerned and, secondly, identifying the primary challenges they face and devising ways to address those challenges.= The United Nations General Agency (UNGA) in recent years has followed a social justice-based approach for patients with rare diseases, acknowledging the h= igh number of patients globally – indeed, a recent estimation showed that 300 million persons out of a total population of 8 billion are affected by a ra= re disease (DESA, 2022b), of which more than half are children. It has also identified the challenges they face in their lives and developed a strategy grounded in human rights and the principle of social justice (UNGA, 2021).<= o:p>
<=
span
style=3D'mso-spacerun:yes'>Â
I=
ts first
Resolution on rare diseases, adopted in 2021, is firmly rooted in the main
international human rights instruments such as the Universal Declaration of
Human Rights and the International Covenant on Economic, Social and Cultural
Rights (ICESCR), and recognises "the fundamental importance of equity,
social justice and social protection mechanisms" (UNGA, 2021). It also
acknowledges the specific social and health challenges that affect the qual=
ity
of life and social well-being of these individuals across various domains,
"including but not limited to health, education, employment, and
leisure" (UNGA, 2021).
<= o:p>
T=
o tackle
these challenges, the UNGA proposes a roadmap for States and the internatio=
nal
community, grounded in both human rights and the foundational commitment ma=
de
by all States in 2015 to pursue sustainable development and prioritise those
furthest behind. The right to the highest attainable standard of physical a=
nd
mental health (hereafter referred to as the right to health), the right to =
an
adequate standard of living, and the right to education – especially for
children – are explicitly referenced by the General Assembly (UNGA, 2021).
Conversely, the right to access, participate in, and benefit from science
(hereafter referred to as the right to science), which is also guaranteed by
the ICESCR, is not mentioned.
<= o:p>
T=
he reading
of this Resolution allows us to recognise the importance of access to neces=
sary
healthcare services (including products) as a central social determinant of
health for people living with a rare disease. This is rather singular
concerning the results of public health research in the 21st
century, highlighting the fact that, although universal access to adequate =
and
culturally appropriate healthcare services is a source of overall health ga=
ins,
properly addressing health inequities implies placing more emphasis on
addressing social inequalities (Bueno de Mesquita & Forman, 2023). The
importance of health care for this group is linked to the complexity of the
health-related challenges that are particularly intricate in the case of ra=
re
diseases.
<= o:p>
H=
owever, a
number of obstacles, often interrelated, hinder access to healthcare for
patients living with a rare disease. The first of these concerns weaknesses=
in
the essential constitutive elements of the health system in the patient's
country of origin, including a shortage of specialised healthcare professio=
nals
and a lack of information and awareness about rare diseases among those
healthcare professionals who are available (Domaradzi<=
/span>
& Walkowiak, 2021); financial barriers for accessing goods and services,
including long-term care (ILO, 2021); finally, the absence of the requisite
proper diagnostic tools and medical treatment options, as shown by analyses
revealing that diagnostic tools and special medicines are only available fo=
r 5%
of rare diseases (EU Commission, 2020). Second, and on a more structural ba=
sis,
access to healthcare is impeded by the lack of scientific research, which i=
s,
in turn, having an impact on the training of specialised healthcare
professionals, on the very existence of suitable treatments for the numerous
rare diseases already identified (between 5,000 and 7,000), and, finally, on
decisions for the coverage of existing treatment costs (Dagron,
2011a; Dagron, 2011b).
<= o:p>
C=
oncerning
this last point, access to treatment and healthcare services is generally
dependent on scientific evidence as the basis for financial allowance
decisions. "Orphan drugs" – or drugs developed for patients wit=
h rare
diseases – are generally very expensive, and access to them may be imposs=
ible
for patients in countries without appropriate healthcare coverage. In count=
ries
where the costs of at least basic healthcare services and medicines are
partially or completely covered by the national healthcare system or health
insurance system, access may also be difficult, as reimbursement decisions =
for
medicines are typically based on cost-effectiveness considerations informed=
by
scientific evidence. This is the case of Switzerland, where the mandatory h=
ealth
insurance system reimburses the cost of medicinal products included on a li=
st
of pharmaceutical specialities that is constituted based on scientific proo=
f of
their effectiveness, therapeutic value, and economic character (Swiss Feder=
al
Health Insurance Act, 1994). In some exceptional cases, the proof of a
"possibility of improvement" instead of the proof of a "high
therapeutic benefit" might be sufficient to allow for coverage (Ordina=
nce
on Health Insurance, 1995).
<= o:p>
Meth=
odology:
analysis approach
A=
lthough a
full exploration of all challenges encountered by patients suffering from a
rare disease and their families – including but not limited to health–<=
span
style=3D'mso-spacerun:yes'>Â would be essential to allow for a comp=
lete
understanding of their social, economic, or psychological causes, this arti=
cle
will focus solely on the healthcare-related challenges and the main human
rights arguments. In the first part, we will explore the limitations of the
approaches and strategies adopted so far to address the health needs of peo=
ple
with rare diseases (Part 1). We will then propose an analysis of recent cha=
nges
at the global level in favour of health equity and justice and analyse the
complementarity of specific human rights as a solid basis for patients'
requests to their governments concerning the improvement of accessibility to
and affordability of innovative tools and treatments (Part 2).
<= o:p>
Find=
ings and
Discussion
Part=
1 - Strategies
for rare diseases: existing barriers to health equity
S=
ince the
end of the 20th century, only a few States or regions that host
leading research-intensive biopharmaceutical companies have addressed rare
diseases and the related challenges patients face in accessing healthcare
services. More recently, the international community has also paid attentio=
n to
this issue. The analysis of these efforts reveals that while States are
generally becoming more aware of the necessity to aim for the realisation of
health equity and justice based on a human rights-based approach to public
health issues, the fight against rare diseases has not been linked with suc=
h an
approach for very specific reasons.
<= o:p>
Strategies
for rare diseases: the traditionally limited influence of human rights
A=
t national
and regional levels, States' interest in combating rare diseases has taken =
the
form of legislative instruments primarily aimed at encouraging the
pharmaceutical industries to engage in Research and Development (R&D) f=
or
rare diseases. The first legislative act of this kind was the Orphan Drug A=
ct
(ODA), adopted by the US in 1983 (Orphan Drug Act, 1983), followed by a
revision of Japan's Pharmaceutical Affairs Law in 1993, introducing provisi=
ons
on the promotion of R&D and priority reviews for orphan drugs (Japan
Pharmaceutical Manufacturers Association, 2020), and by the European Union =
(EU)
in 1999, with the Regulation 141/2000 on orphan medicinal products (Regulat=
ion
(EC) No 141/2000, 1999).
<= o:p>
T=
hese acts
contain similar incentives, including a reduction in fees payable to regula=
tory
authorities for marketing authorisations, market exclusivity (at least for a
few years), grants for research promotion, tax reductions, or special
procedures for marketing authorisations (e.g., priority reviews for orphan
drugs). For example, the US law (Caetano et al., 2021; Fagnan et al., 2014)
provides seven years of market exclusivity for a drug designated as an orph=
an
drug (Orphan Drug Act, 1983, § 527(a)(2)), grants and tax credits of up to=
50%
for R&D expenses, and a waiver on user fees when applying to the Food a=
nd
Drug Administration (FDA) (Orphan Drug Act, 1983, § 4(a)). The EU regulati=
on
provides a special contribution by the European Community, which allows
partially or entirely waived fees for companies seeking to place an orphan =
drug
on the market (Regulation (EC) No 141/2000, 1999). It also grants market
exclusivity for 10 years to orphan drugs that have received marketing
authorisation (Regulation (EC) No 141/2000, 1999). This market exclusivity
effectively prohibits the Community and EU Member States from accepting oth=
er
applications for marketing authorisation for the same therapeutic purpose
(Regulation (EC) No 141/2000, 1999). Furthermore, targeted grants can also =
be
allocated to support research and development (Regulation (EC) No 141/2000,
1999).
<= o:p>
T=
hese laws
have been supplemented by other instruments that address the challenges of
conducting research in the context of rare diseases, particularly in cases
involving limited numbers of adults and underage patients, by introducing
procedures to facilitate the marketing of these specific drugs (Gupta et al=
.,
2016). For instance, the EU introduced accelerated or conditional approval
pathways allowing companies to obtain marketing authorisation based on
simplified requirements for the quality, safety, and efficacy of these prod=
ucts
(Commission Regulation (EC) 507/2006, 2006).
<= o:p>
S=
tate and
regional authorities have historically exercised caution in avoiding refere=
nces
to obligations arising from human rights, whether linked to the right to he=
alth
or the right to science, as a justification for adopting the aforementioned
legislation. While the US Act invokes a "public interest" (Orphan
Drug Act, 1983, § 1(6)), the European regulation refers to the principle of
equity and considers that "patients suffering from rare conditions sho=
uld
be entitled to the same quality of treatment as other patients"
(Regulation (EC) No 141/2000, 1999, at op 2). This approach mirrors the
traditional stance of the international community in the field of public he=
alth
during the latter half of the 20th century and the early 21st century.
Interventions by the UNGA in public health have traditionally been scarce u=
p to
the present day (Dagron, 2019).
<= o:p>
H=
owever,
the UNGA did intervene on an exceptional basis starting in 2000 and 2001, by
including health issues in the Millennium Declaration (UNGA, 2000) and
addressing the Acquired Immune Deficiency Syndrome (AIDS) epidemic caused by
the Human Immunodeficiency Virus (HIV) (UN, 2001; ECOSOC, 2009). The UNGA h=
as
since focused its attention on health problems such as malaria (UNGA, 2001),
sickle-cell anaemia (UNGA, 2008), tuberculosis (TB) (UNGA, 2023),
non-communicable diseases (NCDs) (UNGA, 2018), rare diseases (UNGA, 2021), =
and
other more general issues, such as global health as a foreign policy matter
(UNGA, 2008), health as a central target for the realisation of the 2030 Ag=
enda
for Sustainable Development (UNGA, 2015) or
universal health coverage (UHC) as an essential instrument for a healthier
world for all (UNGA, 2019; UNGA, 2023b).
<= o:p>
E=
xcept for
HIV, only the more recent resolutions on TB, NCDs and UHC expressly frame t=
he
health issues at stake as human rights concerns. They also encourage States=
to
adopt a strategy that relies on a human rights-based approach (HRBA) (Londo=
n,
2008; Bustreo & Doebbler, 2020). The more r=
ecent
Resolution on TB interestingly recognises the importance of the right to he=
alth
in association with the right to science as essential human rights to be
respected and promoted in this field (UNGA, 2023a).
<= o:p>
Traditional
barriers to the implementation of an HRBA for rare diseases
T=
here are
multiple reasons behind the absence of express references to human rights in
general and the rights to health and science, more specifically, in
international strategies and national and regional legislative acts concern=
ing
rare diseases. The first reason is linked to the State's capacity to implem=
ent
the numerous obligations related to both. Indeed, it should be understood t=
hat
an obligation to promote these rights does not lead to the same consequences
for all States; the existing socioeconomic differences between them render
their promotion arguably a controversial goal since pharmaceutical R&D
capacities are still scarce in some parts of the world (Vieira et al., 2023;
Khan, 2021). This is even more true regarding the right to science, as
underlined in 2011 by Chapman (Chapman, 2009). She considered that "po=
or
countries and many middle-income countries lack the capacity to conduct
scientific and technological research, to translate findings into useful
applications, to evaluate and regulate their potentially harmful effects, to
distribute them widely, and to make them affordable and accessible across
geographic and populations boundaries" (Chapman, 2009, p. 31). The rea=
lity
today is that only some countries host large R&D-based pharmaceutical
companies (Schuhmacher et al., 2021).
<= o:p>
T=
his might
change in the future, following the example of the successful development of
capacities to produce the COVID-19 vaccine in South Africa, which resulted =
from
global efforts to develop R&D in various regions of the world (Paremoer & Pollock, 2022). For the time being, ho=
wever,
only a few countries have the necessary capacities to conduct research for =
rare
diseases and develop pharmaceutical products. Moreover, these capacities are
protected through the global framework applicable to the protection of
intellectual property rights, which has a significant impact on the
availability and accessibility of all medicines (Heste=
rmeyer,
2007). The complexity of the relationships between intellectual property
regimes, human rights and the right to science, in particular, has been
deconstructed by the Committee on Economic, Social and Cultural Rights (CES=
CR,
2020) as well as in recent literature (Yu, 2022; Plomer, 2021).
<= o:p>
M=
ore
importantly, a central barrier to the use of human rights arguments in favo=
ur
of people with rare diseases and their specific healthcare needs is linked =
to
the interpretations given in 2000 (CESCR, 2000) and 2020 (CESCR, 2020) to t=
he
rights to health and science by the CESCR, as well as by the Committee on t=
he
Rights of the Child (CRC) in charge of the implementation of the Convention=
on
the Rights of the Child and of the right to health guaranteed in art. 24 (C=
RC,
2013).
<= o:p>
The rights to health and science are intrinsically linked. It was on=
ly
relatively recently that the right to science was developed (Mitchell, 2021) and its content concretely
formalised (CESCR, 2020), while its implications in the context of health
remain the subject of ongoing discussions and research (Donders,
2011; Chapman, 2009; Knoppers, 2024). Regarding its content, it is
necessary to understand that this right may be interpreted as offering limi=
ted
utility in the context of rare diseases, at least when considering the core
obligations identified in the literature and the CESCR (CESCR, 2020). Indee=
d,
the right to science is neither unlimited nor absolute (Donders, 2011; CESC=
R,
2020). This is particularly true in the field of health. There is indeed no
general obligation for States to utilise all their resources to support eve=
ry
form of health-related research or to make all medical products and
technologies available and accessible to address every health need under th=
is
right. On the contrary, and in line with the CESCR's interpretation, States
must make choices and focus on priority healthcare needs, thereby prioritis=
ing
prevalent diseases, those more commonly found within the population in term=
s of
total number of cases. According to the CESCR, States must make sure that t=
hey
use all available resources to "ensure access to those applications of
scientific progress that are critical to the enjoyment of the right to
health" (CESCR, 2020, para. 52). They also have to "ensure that i=
n the
allocation of public resources, priority is given to research in areas where
there is the greatest need for scientific progress in health" (CESCR,
2020, para. 52).
The objective of fulfilling the priority healthcare needs of the
population, which by definition excludes the specific needs of patients with
(non-prevalent) rare disease, also clearly emerges from the interpretation
given to the right to health by both the CESCR (Donders, 2011) and the CRC.=
U=
nder the
CESCR in GC 14, the right enshrined in Art. 12.2 (d) ICESCR to health
facilities, goods and services is to be understood as a right to equal and
timely access to "appropriate treatment of prevalent diseases and
illnesses" (CESCR, 2000, para. 17). Consequently, the "critical
elements" for the enjoyment of the right to health are guided by this
central objective. This is evident in how health technologies are identifie=
d:
the Committee requires States to ensure the provision of the so-called
"essential drugs" (CESCR, 2000, para. 17), defined by the WHO Act=
ion
Programme on Essential Medicines as "those that satisfy the priority
healthcare needs of a population (…) selected with due regard to disease
prevalence and public health relevance, evidence of efficacy and safety and
comparative cost-effectiveness" (WHO, 2021). This same rationale appli=
es
to the State's core obligations resulting from the right to health, which a=
re
related to the population's priority needs. For instance, the Committee
explicitly states the obligation "to provide essential drugs" (CE=
SCR,
2000, para. 43 (d)), "to adopt and implement a national public health
strategy and plan of action, on the basis of epidemiological evidence,
addressing the health concerns of the whole population" (CESCR, 2000,
para. 43 (f)), "to provide immunisation against the major infectious
diseases occurring in the community" (CESCR, 2000, para. 43 (b)), and
"to take measures to prevent, treat and control epidemic and endemic
diseases" (CESCR, 2000, para. 43 (c)).
<= o:p>
T=
he CRC, in
its GC 15, adopts the same interpretation of States' obligations in relatio=
n to
the right to health of the child, as guaranteed by Art. 24 of the Conventio=
n on
the Rights of the Child (CRC, 2013). The CRC proposes a list of appropriate
measures for the full implementation of children's right to health,
specifically addressing prevalent health issues. The CRC, art. 24, paragraph 2 requires=
States
to "put in place a process for identifying and addressing (…) issues
relevant to children's right to health" (CRC, 2013, para. 32). States =
are
therefore asked to conduct "an in-depth analysis of the current situat=
ion
in terms of priority health problems and responses" and identify and
implement "evidence-based interventions and policies that respond to k=
ey
determinants and health problems" (CRC, 2013, para. 32).
<= o:p>
M=
oreover,
this approach frames the obligation to "take appropriate measures (…=
) to
diminish infant and child mortality" enshrined in Art. 24, paragraph 2
(a), as an obligation to pay particular attention to specific causes of
mortality for children under five, such as pneumonia, diarrhoeal disease and
malaria (CRC, 2013, paras. 33-35). Similarly, the obligation "to ensure
the provision of necessary medical assistance and health care to all childr=
en
with an emphasis on the development of primary healthcare," enshrined =
in
Art. 24, paragraph 2 (c), is interpreted as imposing an obligation upon Sta=
tes
to "prioritise universal access for children to primary healthcare
services" (CRC, 2013, para. 36), and to "make all essential medic=
ines
on the WHO Model Lists of Essential Medicines (…) available, accessible a=
nd
affordable" (CRC, 2013, para. 37). Finally, art. 24, paragraph 2 (d) a=
lso
includes an obligation that does specifically address the specific needs of
patients with rare diseases: the obligation for States to "combat dise=
ase
(…) through the application of readily available technology" (Conven=
tion
on the Rights of the Child, 1989, para. 24 (2)(c)). This point is reiterate=
d in
the CRC reference regarding technologies for "immunisation against the
common childhood diseases" or "essential antibiotics and antiviral
drugs" (CRC, 2013, para. 41).
<= o:p>
<= o:p>
<= o:p>
<= o:p>
Part=
2 - Time
for a change of paradigm: implications of equity and justice for rare disea=
ses
Recogni=
sing Rare Disease Patients as a Vulnerable Group in Human Rights Law: an
important step towards social justice
Human rights instruments are designed to
protect all individuals, particularly those who are more vulnerable to
violations of their fundamental rights. To date, patients with a rare disea=
se
have not been recognised by human rights bodies or courts as a group requir=
ing
particular attention. In its GC 15, the CRC only considers children belongi=
ng
to "the poorest parts of the population and in developing States"=
as
being in a vulnerable situation (CRC, 2013, para. 86). Here, the Committee
aligns with the literature and the identification of disadvantaged individu=
als
as being "those at the bottom of the economical [sic] and social
scale" (Chapman, 2009, p. 14), evidently subject to multiple social,
economic, environmental, legal and political risk factors, and not those who
are disadvantaged due to a genetic disorder or other specific disease. In t=
he
same vein, the CESCR, in its GC 14, identifies women, children, older perso=
ns,
persons with disabilities and Indigenous persons as the ones who should rec=
eive
special protection (CESCR, 2000).
However, today, many arguments support a =
change
of paradigm. The first is based on the evolution of discrimination over tim=
e.
In its 2009 2009 General Comment on the principles of non-discrimination and
equality as fundamental components of international human rights law, the C=
ESCR
stated that "the nature of discrimination varies according to context =
and
evolves over time" (CESCR, 2009, para. 27). Accordingly, the lists of
grounds developed in its general comments and concluding observations are n=
ot
exhaustive, and other possible prohibited grounds – or sources of
discrimination and marginalisation – can be recognised, and new groups
requiring special protection may be identified. For example, individuals wi=
th
HIV status have been progressively recognised as such a group due to the
multiple restrictions imposed on their civil and political rights, as well =
as
their economic, social and cultural rights (CESCR, 2009). Another example is
given by the GC 25 with the recognition of lesbian, gay, bisexual, transgen=
der,
queer and intersex (LGBTQI) persons (Holzhacker,
2014) as a group deserving special protection, as have women, persons with
disabilities, Indigenous people and persons – more particularly children =
–
living in poverty (CESCR, 2009).
Patients living with a rare disease exper=
ience
numerous forms of discrimination that are difficult to consider as
"systemic" due to the rarity and specificity of their conditions =
at
the national level. However, the lack of available and accessible diagnostic
tools and medicines constitutes a considerable barrier to both their right =
to
health and their right to science. This amounts to discrimination, which
arguably justifies the recognition of these patients as requiring special
protection, as well as the development of special procedures to facilitate =
the
protection and promotion of their rights based on the procedures already
mandated by the Human Rights Council on specific groups (children, Indigeno=
us
people, older people, etc.).
The second argument is linked to the rece=
nt
attention given by the international community to the principle of social
justice and the achievement of equity in health. While the concept of equit=
y in
health has been at the centre of discussions conducted by the International
Negotiating Body in charge of the development of a new pandemic legal
instrument (WHO Collaborating Center, 2023) sin=
ce
2022, the principle of social justice has been a cornerstone of the Sustain=
able
Development Agenda 2030, adopted in 2015 by the UNGA (UNGA, 2015),. The
so-called 2030 Agenda does not expressly refer to either international human
rights norms or the rights to health or science. However, it sets out the
strategies to be jointly followed by each nation and the international
community, strategies inspired by international human rights instruments
(Ebbeson & Hey, 2022), to achieve a common vision of a "just,
equitable, tolerant, open and socially inclusive world in which the needs of
the most vulnerable are met" (UNGA, 2015, para. 8).
It is within this framework that patients=
with
rare diseases have been recognised as a special group, whose specific needs
must be taken seriously. More precisely, rare diseases must be taken into
account for the full realisation of UHC, which is also a central component =
of
the 3rd Sustainable Development Goal on health and well-being (Dagron, 2022). In 2019, the UNGA expressly acknowledg=
ed an
obligation for States to address rare diseases as part of UHC (UNGA, 2019, =
para
34). It also defined UHC as ensuring "that all people have access, wit=
hout
discrimination, to nationally determined sets of the needed promotive,
preventive, curative, rehabilitative and palliative essential health servic=
es,
and essential, safe affordable, effective and quality medicines and vaccine=
s,
while ensuring that the use of these services does not expose the users to
financial hardship, with a special emphasis on the poor, vulnerable, and
marginalised segments of the population" (UNGA, 2019, para. 8).
Moreover, for the European Union, patient=
s with
rare diseases belong to the vulnerable "segments of the population&quo=
t;
deserving special treatment. For instance, the strong link between solidari=
ty,
Universal Health Coverage (UHC), and rare diseases is evident in the EU's
public health strategies following the COVID-19 pandemic (EU Parliament, 20=
20;
EU Commission, 2021). The same is true for the High Commissioner for Human
Rights (HCHR) in a report on the contribution of human rights to the concep=
tualisation
of UHC (HCHR, 2019). The HCHR notes that "even when access to some for=
m of
health care exists, coverage usually mirrors health issues as experienced by
the general population, with little or no attention paid to the specific ne=
eds
and rights of persons living with rare diseases" (HCHR, 2019, para. 29=
).
The HCHR also highlights that "the paucity of medical and scientific
knowledge about rare diseases drives [the]marginalisation [of the patients],
with the result that many people remain undiagnosed and therapies are diffi=
cult
to develop" (HCHR, 2019, para. 29) Finally, according to the HCHR,
"rare diseases often attract stigma and discrimination, and many perso=
ns
living with a rare disease find themselves excluded from participation in
employment and from integrating fully and productively into society."
(HCHR, 2019, para. 29) As a consequence, the HCHR encourages States to scal=
e up
their efforts to achieve UHC by 2030, including "efforts to address (â=
€¦)
rare diseases (…) as part of universal health coverage" (HCHR, 2019,=
para.
34).
It is worth noting that the designation of
groups as requiring special attention or as being "vulnerable" has
been recognised as potentially leading to stigmatisation, misplaced
paternalism, or even essentialism (Peroni & Timmer, 2013). This risk,
inherent in the concept of vulnerability, must be taken seriously. However,=
in
the case of rare diseases, such risks do not appear to be prominent. The
primary source of discrimination stems from the lack of medical and scienti=
fic
knowledge rather than the specific and personal attributes of each patient.
Their particularities are rooted in the complexity and severity of the dise=
ase
they suffer from, not in characteristics such as gender, socioeconomic stat=
us
or nationality (recognised as forbidden sources of discrimination) (ICCPR,
1966, art. 26; ICESCR, 1966, art. 2) – although they may also experience
discrimination related to these characteristics. Moreover, these patients a=
re
not deprived of their independence and have shown strong capacities to addr=
ess
their vulnerabilities, both as individuals asserting their rights in court =
(Dagron, 2011b) and collectively as a group. For insta=
nce,
lobbying efforts from grassroots patient groups in advancing human rights-b=
ased
approaches were the driving force behind the legislative efforts analysed
above. The advocacy of these groups has helped hold their governments
accountable for protecting patients' rights to life and health (Dunkle et a=
l.,
2010). A change of paradigm in how the needs of patients with ra=
re
diseases are comprehensively addressed through a human rights lens constitu=
tes
a remarkable step forward. With the implementation of the right to science,
specific actions are no longer seen as political choices but as legal
obligations for States.
Advancing equity in health for rare disea=
se
patients through human rights: what implications today?
The recognition of patients living with a=
rare
disease as a group with specific risks and needs creates positive (legal)
obligations for States to address all sources of risks and promote
(substantive) equality. In light of the UNGA Resolutions on rare diseases, =
TB
or NCDs, the CESCR interpretation of the right to science (CESCR, 2020), and
academic discussions on invoking this right in specific contexts (Frick &am=
p;
Dang, 2021), the call to address the health needs of patients with rare
diseases through a human rights lens has significant implications.
 Although
complementary, these implications differ depending on whether we consider t=
he
implementation of the right to health in conjunction with the right to adeq=
uate
standards of living or the implementation of the right to science. The UNGA
2021 Resolution on rare diseases expressly refers to the first set of rights
and identifies a two-fold, complementary goal for States addressing rare
diseases.
Concerning the right to health, the UNGA
emphasises that States must strengthen their health systems to ensure acces=
s to
healthcare services that are safe, of the highest attainable quality,
accessible, available and affordable, timely, and both clinically and
financially integrated (UNGA, 2021).
Regarding the right to an adequate standa=
rd of
living, the Resolution considers that States must address the root causes of
social inequality and discrimination. These include specific social challen=
ges
related to education, employment, and leisure; achieving gender equality,
particularly in access to healthcare services, education, and decent work; =
and
ensuring access to social protection and assistance, including universal and
equitable access to quality health services without financial hardship (UNG=
A, 2021).
When considering the implementation of the
right to science, States must adopt a more systematic approach that combines
measures designed to guide, support and enable scientific progress. First,
States must guide research toward achieving specific goals for patients liv=
ing
with rare diseases. This involves addressing the role of private companies =
in
decision-making related to research and accessibility. Although the challen=
ges
faced by patients with rare diseases are primarily the result of biological=
specificities,
they are also exacerbated by a research structure that prioritises market
objectives over healthcare needs. The pharmaceutical industry tends to defi=
ne
its research priorities based on the potential marketability of new product=
s,
which in turn depends on the number of potential future consumers, a countr=
y's
economic purchasing power, and the capacity of health systems to deliver
treatments (Trouiller et al., 2002).
Given the central role of the pharmaceuti=
cal
industry in the research and development of technologies and treatments for
rare diseases, it seems more necessary than ever to advocate for the greater
recognition of the human rights-related responsibilities of pharmaceutical
companies, as mentioned in the "UN Guiding principles on business and
human rights" adopted in 2011 by the Human Rights Council (UN Human Ri=
ghts
Council, Resolution 17/4). In 2008, the UN Special Rapporteur on the right =
to
health, relying on the principles of equality and non-discrimination as
expressions of social justice, had already urged private companies to
"give particular attention to the needs of disadvantaged individuals,
communities and populations, such as children, the elderly and those living=
in
poverty" (UN Special Rapporteur, 2008, guideline 5). Although his focu=
s at
the time was on neglected diseases, the reasoning applies equally to rare
diseases today.
Second, States must support the research =
and
development of diagnostic tools and treatments. Such support can be the res=
ult
of legislative instruments, as previously mentioned, that promote the resea=
rch
and development of orphan drugs. It can also be the result of promoting
international contacts and cooperation in the scientific field, as required=
by
Art.15 (4) of the ICESCR. As scientific progress becomes increasingly depen=
dent
on data and information exchange between countries and regions, States shou=
ld promote
cross-border scientific collaborations, which should also include the shari=
ng
of research results, as well as cooperation between the private and public
sectors and among national, regional, and international authorities involve=
d in
rare diseases strategies. Art. 15 (4) of the ICESCR expressly refers to the
benefits derived from international cooperation in the scientific field, and
the CRC emphasises that the realisation of the child's right to health,
especially in developing countries, depends on such collaboration (CRC, 201=
3).
Notably, several collaborative efforts are
already in place. These include platforms such as O=
rphanet,
created in 1997 through a cooperative initiative involving eight countries,
including France, Germany and Switzerland and supported by the European Uni=
on (Orphanet, 1997; Kolkhir, =
2023),
and the International Rare Diseases Research Consortium launched in =
2011
(International Rare Disease Research Consortium, 2011). Both initiatives are
dedicated to collecting data and disseminating information on rare diseases,
making significant contributions to addressing the diagnosis and treatment =
of
affected patients.
Finally, States should adopt measures that
enable patients not only to access the applications of scientific research
(diagnostic tools and treatments) and the related knowledge and information
(including research findings and data) (CESCR, 2020, paras. 16-17; CRC, 201=
3,
paras. 5, 28; Frick & Dang, 2021), but also to be directly involved. Th=
is
inclusion is part of the "participation" dimension of patients'
rights (Frick & Dang, 2021). Patients living with rare diseases – as =
well
as persons with disabilities, as understood by the CESCR, or citizens more
generally (CESCR, 2020) – have the right to participate in the decision-m=
aking
process, including those related to research priorities and broader public
health strategies concerning access to the benefits of research.
The combination of these sets of measures=
is
essential. To date, support for research and development alone, as recommen=
ded
by the 2021 UNGA resolution (UNGA, 2021), has not ensured that people living
with rare diseases can fully benefit from scientific progress. This has been
demonstrated in the US and the EU, where legislation on rare diseases prima=
rily
addresses the costs of R&D (through financial incentives and extended
intellectual property rights) while still allowing the industry's freedom to
define which research and diseases to address.
On the one hand, evaluations in both regi=
ons
reveal a certain degree of commitment to supporting patients living with ra=
re
diseases. For instance, analyses of US legislation have shown that the adop=
tion
of the ODA encouraged research into rare diseases, as evidenced by a notable
increase in approvals for rare disease products (Miller & Lanthier, 201=
8).
Furthermore, a 2020 analysis by the European Commission has shown that since
the 1999 Orphan Regulation, there has been a significant increase in the
availability of orphan medicines and investments in rare disease research a=
nd
development (R&D) (EU Commission, 2020).
On the other hand, these same analyses
highlight that this increase in the number of available drugs has not
translated into broader coverage of specific patient needs (Miller &
Lanthier, 2018). According to the European Commission's evaluations of regu=
lations
on rare diseases and paediatric research, "unmet medical need[s]"
have not been properly addressed, as for the large majority of rare disease=
s,
there still is no treatment available (EU Commission, 2020, p. 34). The rep=
ort
concluded that the legislative instruments "have not done enough to di=
rect
the development [of drugs] in [these] areas" (EU Commission, 2020, p. =
34);
it also noted that "product development tends to cluster around certain
(more profitable) therapeutic areas." As a result, "the number of
treatment options is expanding for some conditions", such as certain
cancers (EU Commission, 2020, p. 41). In response, in 2022, the European
Economic and Social Committee expressed its disappointment in the progress =
made
and called "for a comprehensive European approach that takes into acco=
unt
all the needs of people with rare diseases" (EESC, 2022, para. 1.1).
Patients living with a rare disease face not only fundamental
discrimination, manifested in the lack of diagnostic tools and treatments a=
nd
the resulting inability to enjoy their right to health and benefit from
scientific progress, but also additional forms of discrimination based on
socioeconomic status, gender, age, and other factors. They are also subject=
ed
to a deep injustice stemming from the specific characteristics of their
condition.
 Taking action to fulfil th=
eir
human rights obligations means that States must intervene to strengthen the=
ir
health systems, address the root causes of inequality and discrimination, a=
nd
direct scientific research towards unmet needs. This includes supporting
research and development, particularly through the strengthening of
international cooperation, and ensuring patients' access to diagnostic tools
and treatment alongside their participation in the decision-making process.=
Acting in accordance with the principles of social justice demands t=
hat
States prioritise the needs of patients with rare diseases, even when doing=
so
may challenge cost-efficiency metrics used in broader public health policie=
s.
Access to quality health services and essential medicinal products without
financial hardship is a significant challenge for a large part of the world=
's
population today (DESA, 2022a; ILO, 2021). Even in high-income countries,
trade-offs are always present in healthcare, as no system operates with
unlimited resources. Until now, States have favoured those whose needs they
consider the most pressing based on epidemiological information and central
objectives, such as maternal and child health, health security, and epidemic
control (CESCR, 2000). However, when guided by specific values such as
solidarity, health equity and social justice, adopting an HRBA to healthcare
introduces additional obligations into the equation. The specific healthcare
needs of patients with rare diseases must be given the same level of priori=
ty
as those of any other group whose needs have traditionally been viewed as m=
ost
urgent. In light of ongoing global health reforms, it is time to integrate =
rare
disease justice into mainstream health and human rights strategies
<= o:p>
<= o:p>
Acknowledgeme=
nts
T=
he author
wishes to express her gratitude to the participants and organisers of the
Symposium on the Right to Science with a Focus on Health (in particular to
Samantha Besson, Gérard Escher and Bartha Knopper), which took place at the
Brocher Foundation in Switzerland in December 2021, for their extensive
discussions on the right to science. Special thanks to Patrick Taran for his
insightful contributions to social justice and to Pauline Roy and Elizabeth
Joanne Schwarczer for their bibliographic resea=
rch and
language editing support.
Refe=
rences
Buckle N., =
Rogers
Y., O'Toole D., McNulty S., Kroll T., Gibbs L., Somana=
dhan
S. (2024). A qualitative exploration of children's lives with rare diseases=
. Child
Care Health Dev., 50(4), p. 1-11, https://doi.org/10.1111/cch.13294
Bueno de Mesquita, J., & Forman, L. (2023). Human Right=
s,
Equity and Social Justice in Global Health. In L. O. Gostin, B. M. Meier
(Eds.), Global Health Law & Policy, Ensuring Justice for a Healthier=
World
(pp. 91-118). Oxford University Press.
Bustreo, F., &
Doebbler, C. F. J. (2020). The Rights-Based Approach to Health. In L. O.
Gostin, B. M. Meier (Eds.), Foundations of Global Health & Human
Rights (pp. 89-110). Oxford University Press.
Caetano, R., Corr=
ea, M.
C. D. V., Villardi P., Almeida Rodrigues
P. H., & Osorio-de-Castro, C. G. S. (2021). Dynamics of patents, orp=
han
drug designation, licensing, and revenues from drugs for rare diseases: The
market expansion of eculizumab. PLOS ONE, 16(3), Article e0247853. <=
/span>https://doi.org/10.1371/journal.p=
one.0247853
Chapman, A.=
(2009).
Towards an Understanding of the Right to Enjoy the Benefits of Scientific
Progress and its Applications. Journal of Human Rights, 8(1), 1-36. =
http://dx.doi.org/10.1080/1475483=
0802701200
CESCR, G=
eneral
Comment No. 14: The Right of the Highest Attainable Standard of Health (Art.
12), adopted 11 August 2000, UN Doc E/C.12/2000/4. https://www.ohchr.org/sites/default/files/Documents/Issues/Women/WRGS=
/Health/GC14.pdf
CESCR, G=
eneral
comment No. 25 (2020) on science and economic, social and cultural rights
(article 15 (1)(b), (2),(3) and (4) of the International Covenant on Econom=
ic,
Social and Cultural Rights, adopted 20 April 2020, UN Doc E/C.12/GC/25.=
https://documents.un.org/doc/undoc/gen/g20/108/12/pdf/g2010812.pdf
Charbotel, B., Fe=
rvers,
B., Droz, J. P. (2014). Occupational exposures in rare cancers: A critical
review of the literature. Critical Reviews in Oncology/Hematology,
90, 99-134.
Committee on
Economic, Social and Cultural Rights. (2009, July 2). General Comment No. 20: Non-Discrimination in Economic Social and
Cultural Rights (art. 2, para 2 of the International Covenant of Economic
Social and Cultural Rights), (E.C.12/GC/20). =
https://digitallibrary.un.org/record/659980?v=3Dp=
df
Convention =
on the
Rights of the Child, UN Doc A/RES/44/25 (1989). https://www.ohchr.org/sites/default/files/crc.pdf=
Council of =
the
European Union. (2009, June 8). Council Recommendation of 8 June 2009 on=
an
action in the field of rare diseases (2009/C 151/07). Official Journal =
of
European Union. https://eur-lex.europa.eu/LexUriS=
erv/LexUriServ.do?uri=3DOJ:C:2009:151:0007:0010:EN:PDF
CRC, <=
i>General
Comment No. 15 (2013) on the right of the child to the enjoyment of the hig=
hest
attainable standard of health (art. 24), adopted 17 April 2013, UN Doc
CRC/C/GC/15. https://documents.un.org/doc/undoc/gen/g13/428/14/pdf/g1342814.pdf
Dagron, S. (2011)=
. Droit à la santé et jurisprudence
constitutionnelle : les enseignements de l'expérience allemande. In Faculté de droit et des scie=
nces
sociales de Poitiers, Les voyages du droit : Mélanges en l'honneur=
de
Dominique Breillat (pp. 155‑169). LGDJ.
Dagron, S. (2011)=
. Maladies rares et financement des
traitements médicamenteux innovants en Suisse entre rationalisation et
rationnement : commentaire de l'arrêt du Tribunal fédéral du 23 novembre=
2010 (Myozym=
). Bioethica Forum 3, 110-111.
Dagron, S. (2019). Le droit à =
la
santé, un droit internationalement protégé. In Société française pour=
le droit
international (Ed.), Santé et droit international (pp. 51-72). Pedone.
Dagron, S. (2022)= . SDG 3: Ensure Healthy Lives and Promote Well-Being for All at All Ages. In E. Hey, & J. Ebbesson (Eds.), Cambridge Handbook of The Sustainable Developm= ent Goals and International Law. (pp. 95-116). Cambridge University Press.<= o:p>
DESA. (2022=
a). The
Sustainable Development Goals Report.
https://unstats.un.org/sdgs/report/2022/The-Sustainable-Development-Goals-R=
eport-2022.pdf
DESA. (2022=
b).
World Population Prospects 2022, Summary of Results (New York: United Natio=
ns,
2022). https://www.un.org/development/desa/pd/sites/www.un.org.development.d=
esa.pd/files/wpp2022_summary_of_results.pdf
Domaradzi, J., &
Walkowiak, D. (2021, May 28). Kn=
owledge
and Attitudes of Future Healthcare Professionals Toward Rare Diseases. Frontiers
in Genetics, 12, Article 639610. https://doi.org/10.3389/fgene.2021.639610<=
/a>
Donders, Y.=
(2011).
The Right to Enjoy the Benefits of Scientific Progress: in Search of State
Obligations in Relation to Health. Medicine, Health Care and Philosophy<=
/i>,
14(4), 371-378. https://doi.org/10.1007/s11019-011-9327-y<=
/a>
Dunkle M., =
Pines
W., & L. Saltonstall P. L. (2010). Advocacy Groups and Their Role in Ra=
re
Diseases Research. In M. P. de la Paz and S. C. Groft (Eds.). Rare Disea=
ses
Epidemiology: Advances in Experimental Medicine and Biology (pp. 515-52=
5).
Springer.
Ebbesson, J=
., Hey,
E. (2022). Introduction: The Sustainable Development Goals, Agenda 2030 and
international law. In E. Hey, & J. Ebbesson (Eds.), Cambridge Handbo=
ok
of The Sustainable Development Goals and International Law (pp. 1-49).
Cambridge University Press.
Economic an=
d Social
Council, Report of the United Nations High Commissioner for Human Rights=
,
2019 session, adopted 15 May 2019, UN Doc E/2019/52 (15 May 2019). <=
span
lang=3DES-EC>https://documents.un.org/doc/undoc/gen/g19/139/41/pdf/g1913941.pdf
Economic and Social Council, Resolution =
2009/6:
Joint United Nations Programme on HIV/AIDS (UNAIDS),
adopted 24 July 2009, UN Doc E/RES/2009/6).
European
Commission. (2006). Commission Regulation (EC) 507/2006 of 29 March 2006=
on
the conditional marketing authorisation for medicinal products for human use
falling within the scope of Regulation (EC) No 726/2004 of the European
Parliament and of the Council. Official Journal of the European Union. =
https://eur-lex.europa.eu/LexUriS=
erv/LexUriServ.do?uri=3DOJ:L:2006:092:0006:0009:EN:PDF
European
Commission. (2020, August 11), Commission staff working document: Joint
evaluation of Regulation (EC) No 1901/2006 of the European Parliament and of
the Council of 12 December 2006 on medicinal products for paediatric use and
Regulation (EC) No 141/2000 of the European Parliament and of the Council o=
f 16
December 1999 on orphan medicinal products (SWD (2020) 164 final, part
1/6). https://eur-lex.europa.eu/resource.html?uri=3Dcellar:e9a9fff0-dbd9-11=
ea-adf7-01aa75ed71a1.0001.02/DOC_1&format=3DPDF
European
Commission. (2021, March 4). The European pillar of social Rights Action
Plan (SWD (2021) 46 final). https://eur-lex.europa.eu/legal-content/EN/TXT/HTML/?uri=3DCELEX:5202=
1DC0102
European Ec=
onomic
and Social Committee. (2009, September 11). Opinion on the Proposal for a
Council Recommendation on a European action in the field of rare diseases
(C 218/18). Official Journal of the European Union. https://eur-lex.europa.eu/legal-c=
ontent/EN/TXT/?uri=3DCELEX:52009AE0346
European Ec=
onomic
and Social Committee. (2022, October 26). Opinion: Ensuring strong Europ=
ean
solidarity for rare disease patients (SOC/729). https://www.eesc.europa.eu/en/our-work/opinions-information-reports/o=
pinions/ensuring-strong-european-solidarity-rare-disease-patients
European
Parliament. (2020, July 10). Resolution on the EU's public health strate=
gy
post-COVID-19 (2021/C 371/13). Official Journal of the European Union. =
https://eur-lex.europa.eu/legal-c=
ontent/EN/TXT/PDF/?uri=3DCELEX:52020IP0205
European Pa=
rliament
and Council of the European Union (1999, December 16). Regulation (EC) No
141/2000 of the European Parliament and of the Council of 16 December 1999 =
on
orphan medicinal products, L 18/1. Official Journal of the European
Communities. https://eur-lex.europa.eu/legal-c=
ontent/EN/TXT/HTML/?uri=3DCELEX:32000R0141
Fagnan, D. E., Gromatzky A. A., Stein R. M., Fe=
rnandez
J.-M., & Lo A. W. (2014). Financing drug discovery for orphan diseases. D=
rug
Discovery Today, 19(5), 533-538. https://doi.org/10.1016/j.drudis.2013.11.009
Frick M., &=
amp;
Dang G. (2021). The Right to Science: A Practical Tool for Advancing Global
Health Equity. In H. Porsdam, & S. Porsdam Mann (Eds.), The Right to
Science, Then and Now (pp. 246-267). Cambridge University Press.
Halley, M. =
C.,
Halverson C. M. E., Tabor H. K., & Goldenberg A. J. (2023). Rare Diseas=
e,
Advocacy and Justice: Intersecting Disparities in Research and Clinical Car=
e. The
American Journal of Bioethics, 23(7), 17-26. =
https://doi.org/10.1080/15265161.2023.2207500
Hestermeyer, H. (2007)=
. Human
Rights and the WTO: the Case of Patents and Access to Medicines. Oxford
University Press.
Holzhacker, R. (2014)=
. Gay
Rights are Human Rights: The Framing of New Interpretations of International
Human Rights Norms. In G. Andreopoulos, & Z. F. K. Arat (Eds.), The =
Uses
and Abuses of Human Rights: A Critical Approach to Advocacy (pp. 29-64).
Palgrave Macmillan.
Internation=
al
Covenant on Civil and Political Rights, December 16, 1966. https://www.ohchr.org/sites/defau=
lt/files/ccpr.pdf
Internation=
al
Covenant on Economic, Social and Cultural Rights, December 16, 1966. https://www.ohchr.org/sites/defau=
lt/files/cescr.pdf
Internation=
al
Labour Organization (2021). World Social Protection Report 2020-2022: So=
cial
protection at the crossroads – in pursuit of a better future. Geneva,
United Nations. https://www.ilo.org/sites/default=
/files/wcmsp5/groups/public/@ed_protect/@soc_sec/documents/publication/wcms=
_817572.pdf
Internation=
al Rare
Disease Research Consortium (n.d.). Who we are. Retrieved February 6,
2025, from https://irdirc.org/who-we-are
Japan
Pharmaceutical Manufacturers Association. (2020). Information on Japanese
Regulatory Affairs, Pharmaceutical Administration and Regulations in Japan<=
/i>.
https://www.jpma.or.jp/english/about/parj/eki4g600000078c0-att/2020.p=
df
Khan, U. (2=
021). Decolonizing Tuberculosis Care: A
Perspective From The Global South On World TB Day. Health Policy
Watch. https://healthpolicy-watch.news/84121-2/
Knoppers, B=
. M.,
Beauvais, M. J. (2024), Implementing the human right to science in the cont=
ext
of health: introduction to the special issue. Journal of Law and the
Biosciences, 11(2), 1-8. https://doi.org/10.1093/jlb/lsae018<=
span
lang=3DEN-GB style=3D'font-size:10.0pt;mso-ansi-language:EN-GB'>
Kolkhir, P. (2023)=
. An EU
task force to assess the burden of rare diseases. Nature Medicine,
29(3), 516-517. https://doi.org/10.1038/s41591-023-02207-9=
London, L. =
(2008).
What is a Human-Rights Based Approach to Health and Does It Matter? Heal=
th
and Human Rights Journal, 10(1), 65-80. http://dx.doi.org/10.2307/20460088
Miller, K.,=
&
Lanthier M. (2018). Investigatin=
g the
Landscape of US Orphan Product Approvals. Or=
phanet
Journal of Rare Diseases, 13(1), 183. https://doi.org/10.1186/s13023-018-0930-3<=
/a>
Mitchell, C.
(2021). Epilogue: Tensions in the Right to Science Then and Now. In H. Pors=
dam,
S. Porsdam Mann (Eds.), The Right to Science, Then and Now (pp.
286-297). Cambridge University Press.
Ordinance o=
f 27
June 1995 on Health Insurance, SR 832.102 (1995). https://www.fedlex.admin.ch/eli/c=
c/1995/3867_3867_3867/fr
Orphan Drug=
Act of
1983, H.R. 5238, 97th Congress (1983). <=
span
style=3D'font-size:10.0pt;color:windowtext;text-decoration:none;text-underl=
ine:
none'>https://www.congress.gov/bill/97th-congress/house-bill/5238/text
Orphanet (1997). The portal for rare dise=
ases
and orphan drugs. Retrieved February 6, 2025, from https://www.orpha.net/consor/cgi-bin/index.php.
Paremoer, L., &
Pollock, A. (2022). "A pass=
ion to
change the landscape and drive a renaissance": The mRNA Hub at Afrigen as decolonial aspiration. Frontiers=
in
Public Health, 10. https://doi.org/10.3389/fpubh.2022.1065993=
Peroni,
L., & Timmer, A. (2013). Vulnerable groups: The promise of =
an
emerging concept in European Human Rights Convention law. Interna=
tional
Journal of Constitutional Law, 11(4), 1056–1085. https://doi.org/10.1093/icon/mot042<=
span
lang=3DEN-GB style=3D'font-size:10.0pt;mso-ansi-language:EN-GB'>
Plomer, A. =
(2021).
IP Rights and Human Rights, What History Tells Us and Why It Matters. In H.
Porsdam, S. Porsdam Mann (Eds.), The Right to Science, Then and Now =
(pp.
54-75). Cambridge University Press.
Rare Diseas=
e Act of
2002, H.R. 4013, 107th Congress (2002).
Schuhmacher=
, A.,
Wilisch L., Kuss M., Kandelbauer A., Hinder M., & Gassmann O. (2021). <=
/span>R&D eff=
iciency
of leading pharmaceutical companies – a 20-year analysis. Drug Discove=
ry
Today, 26(8), 1784-1789. https://doi.org/10.1016/j.drudis.2021.05.005
Swiss Feder=
al
Health Insurance Act of 18 March 1994, RS 832.10 (1994). https://www.fedlex.admin.ch/eli/c=
c/1995/1328_1328_1328/fr
Trouiller, P., Olliaro, P., Torreele, E.=
, Orbinski, J., Laing, R., & Ford, N. (2002). Drug Development for Neglected Disease=
s: a
Deficient Market and a Public-Health Policy Failure. The Lancet,
359(9324), 2188-2194. https://doi.org/10.1016/S0140-6736(02)09096-7
UN, Decl=
aration
of Commitment on HIV/AIDS, 26th Sess, adopted 27 June 2001. =
https://www.ohchr.org/en/instruments-mechanisms/instruments/declarati=
on-commitment-hivaids
UNGA, 20=
01-2010
Decade to Roll Back Malaria in Developing Countries, Particularly in Africa=
,
55th Sess, adopted 28 September 2001, UN Doc A/RES/55/284). https://digitallibrary.un.org/rec=
ord/448002?ln=3Dru&v=3Dpdf
UNGA, Ad=
dressing
the challenges of persons living with a rare disease and their families=
.,
76th Sess, adopted 16 December 2021, UN Doc A/RES/76/132. https://digitallibrary.un.org/rec=
ord/3953765?v=3Dpdf
UNGA, De=
claration
on the Elimination of Discrimination against Women, 22nd Sess, adopted 7
November 1967, UN Doc A/RES/22/2263. <=
span
lang=3DEN-GB style=3D'font-size:10.0pt;color:windowtext;mso-ansi-language:E=
N-GB;
text-decoration:none;text-underline:none'>https://www.eods.eu/library/UNGA_=
Declaration%20Women_1967_en.pdf
UNGA, Gl=
obal
Health and Foreign Policy, 63rd Sess, adopted 26 November 2008, UN Doc
A/RES/63/33.
UNGA, Po=
litical
Declaration of the Third High-Level Meeting of General Assembly on the =
Prevention
and Control of non-communicable diseases, 73rd Sess, adopted=
10
October 2018, UN Doc A/RES/73/2. <=
span
lang=3DEN-GB style=3D'font-size:10.0pt;color:windowtext;mso-ansi-language:E=
N-GB;
text-decoration:none;text-underline:none'>https://digitallibrary.un.org/rec=
ord/1648984?ln=3Dfr&v=3Dpdf
UNGA, Po=
litical
Declaration of the High-Level Meeting of the General Assembly on the Fight
Against Tuberculosis, 78th Sess, adopted 5 October 2023, UN =
Doc
A/RES/78/5. <=
span
lang=3DEN-GB style=3D'font-size:10.0pt;color:windowtext;mso-ansi-language:E=
N-GB;
text-decoration:none;text-underline:none'>https://digitallibrary.un.org/rec=
ord/4025280?ln=3Dfr&v=3Dpdf
UNGA, Po=
litical
Declaration of the High-Level Meeting on Universal Health Coverage, 74<=
sup>th
Sess, adopted 10 October 2019, UN Doc A/RES/74/2. <=
span
lang=3DEN-GB style=3D'font-size:10.0pt;color:windowtext;mso-ansi-language:E=
N-GB;
text-decoration:none;text-underline:none'>https://digitallibrary.un.org/rec=
ord/3833350?ln=3Dfr&v=3Dpdf
UNGA, Po=
litical
Declaration of the High-Level Meeting on the Fight against Tuberculosis=
, 78th
Sess, adopted 16 October 2023 (2023a), UN Doc A/RES/78/5. https://documents.un.org/doc/undoc/gen/n23/306/91/pdf/n2330691.pdf
UNGA, Po=
litical
Declaration of the High-Level Meeting on Universal Health coverage, 78<=
sup>th
Sess, adopted 16 October 2023 (2023b), UN Doc A/RES/78/4. https://documents.un.org/doc/undoc/gen/n23/306/84/pdf/n2330684.pdf
UNGA, Re=
cognition
of Sickle-Cell Anemia as a Public Health Proble=
m,
63rd Sess, adopted 22 December 2008, UN Doc A/RES/63/237. https://digitallibrary.un.org/rec=
ord/644334/files/A_RES_63_237-EN.pdf
UNGA, Tr=
ansforming
Our World: The 2030 Agenda for Sustainable Development, 70th
sess, adopted 25 September 2015, UN Doc A/RES/70/1. https://www.un.org/en/development/desa/population/migration/generalas=
sembly/docs/globalcompact/A_RES_70_1_E.pdf
UNGA, Un=
ited
Nations Millennium Declaration, 55th Sess, adopted 18 Septem=
ber
2000, UN Doc A/RES/55/2. https://www.un.org/en/development/desa/population/migration/generalas=
sembly/docs/globalcompact/A_RES_55_2.pdf
UN Human Ri=
ghts
Council, Resolution 17/4 endorsing the "Guiding Principles on Busin=
ess
and Human Rights", 16 June 2011
UN Special
Rapporteur on the right to the highest attainable standard of health, Hu=
man
Rights Guidelines for Pharmaceutical Companies in relation to Access to
Medicines, 11 August 2008, UN Doc A/63/263. https://docs.un.org/en/A/63/263
Vieira, M.,=
Andia,
T., Karim, O., Srishti, S. A., Pineda, S. A., Ruiz, A. A., Large, K., Liu, =
Y.,
Moon, S., Naher, N., Siddiqui, A., & Ahmed, S. M. (2023). Rising
pharmaceutical innovation in the Global South: a landscape study. Journa=
l of
Pharmaceutical Policy and Practice, 16(155), 1-19. https://doi.org/10.1186/s40545-023-00669-3=
World Health
Organization. (2021). Model List of Essential Medicines, 22nd List
(WHO/MHP/HPS/EML/2021.02). https://iris.who.int/bitstream/handle/10665/345533/WHO-MHP-HPS-EML-20=
21.02-eng.pdf
World Health
Organization Collaborating Center. (2023). G=
lobal
Consultation on Equity Models for a Pandemic Agreement in support of the Wo=
rld
Health Organization and the Intergovernmental Negotiating Body: Advancing a World Together Equitably
(Geneva, United Nations,). https://oneill.law.georgetown.edu/wp-content/uploads/2023/02/P7_ONL_P=
andemic_Equity_Models_-1.pdf
Yu, P. K. (=
2022).
Can the Right to Science Reduce the Tensions Between Intellectual Property =
and
Human Rights. Texas A&M University School of Law, Legal
Studies Research Paper No 22-56. https://papers.ssrn.com/sol3/pape=
rs.cfm?abstract_id=3D4273521
5
Treating rare diseases wi=
th
justice: Implications of a human rights-based approach