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Introduction                                 Functions and dispositions                         Conclusions




                   Relating functions and dispositions using
                           nonmonotonic reasoning

                   Robert Hoehndorf1,2 , Janet Kelso2 , Heinrich Herre1

                                          1 Institute
                                                 for Informatics
                                                 and
                Research Group Ontologies in Medicine, Institute for Medical Informatics,
                           Statistics and Epidemiology, University of Leipzig
               2 Department   of Evolutionary Genetics, Max-Planck-Institute for Evolutionary
                                                Anthropology
Introduction                        Functions and dispositions     Conclusions



Functions in biomedical ontologies



               Gene Ontology (molecule function)
               Celltype Ontology (cell function)
               FMA, Anatomie (organ function)
               Disease Ontology, (Human/Mammalian) Phenotype Ontology
               (malfunctioning)
               OBI (device function)
               Protein Ontology
Introduction                          Functions and dispositions                Conclusions


Functions in biomedical ontologies
A solved problem?




       A function f is
          1    a realizable dependent continuant, which
          2    has a bearer which is an independent continuant, and
          3    is of a type instances of which typically have realizations; each
               realization is
                 1   a process in which the bearer is a participant,
                 2   that occurs in virtue of the bearer’s physical makeup,
                 3   this physical make-up is something which that bearer possesses
                     because of how it came into being.
       Arp and Smith, 2008
Introduction                      Functions and dispositions   Conclusions


Functions in biomedical ontologies
BFO: The function of the heart is to make thumping noises




       A function f is
           a realizable dependent continuant, which
                “To make thumping noises” is realizable.
Introduction                        Functions and dispositions        Conclusions


Functions in biomedical ontologies
BFO: The function of the heart is to make thumping noises




       A function f is
           a realizable dependent continuant, which
                   “To make thumping noises” is realizable.
               has a bearer which is an independent continuant, and
                   The heart is an independent continuant.
Introduction                         Functions and dispositions               Conclusions


Functions in biomedical ontologies
BFO: The function of the heart is to make thumping noises




       A function f is
           a realizable dependent continuant, which
                    “To make thumping noises” is realizable.
               has a bearer which is an independent continuant, and
                    The heart is an independent continuant.
               is of a type instances of which typically have realizations;
                    “To make thumping noises” is typically realized.
Introduction                      Functions and dispositions             Conclusions


Functions in biomedical ontologies
BFO: The function of the heart is to make thumping noises




       Each realization is
           a process in which the bearer is a participant,
                Hearts participate in thumping-noise-making processes.
Introduction                        Functions and dispositions              Conclusions


Functions in biomedical ontologies
BFO: The function of the heart is to make thumping noises




       Each realization is
           a process in which the bearer is a participant,
                   Hearts participate in thumping-noise-making processes.
               that occurs in virtue of the bearer’s physical makeup,
                   Thumping-noise-making occurs due to the physical makeup of
                   the heart.
Introduction                        Functions and dispositions              Conclusions


Functions in biomedical ontologies
BFO: The function of the heart is to make thumping noises




       Each realization is
           a process in which the bearer is a participant,
                   Hearts participate in thumping-noise-making processes.
               that occurs in virtue of the bearer’s physical makeup,
                   Thumping-noise-making occurs due to the physical makeup of
                   the heart.
               this physical make-up is something which that bearer
               possesses because of how it came into being.
                   Heart possess their makeup due to how they came into being.
Introduction                        Functions and dispositions              Conclusions


Functions in biomedical ontologies
BFO: The function of the heart is to make thumping noises




       Each realization is
           a process in which the bearer is a participant,
                   Hearts participate in thumping-noise-making processes.
               that occurs in virtue of the bearer’s physical makeup,
                   Thumping-noise-making occurs due to the physical makeup of
                   the heart.
               this physical make-up is something which that bearer
               possesses because of how it came into being.
                   Heart possess their makeup due to how they came into being.
       Therefore: The function of the heart is to make thumping noises.
       (BFO)
Introduction                            Functions and dispositions       Conclusions


Functions in biomedical ontologies
Function in BFO




               functions may “typically” not be realized: sperm cells
               functions may be acquired after through transformation (not
               at time of creation): angiotensin I to angiotensin II
               what is a realization?
Introduction                         Functions and dispositions             Conclusions


Functions in biomedical ontologies
Realizations




               What makes a process a realization of a function?
               Participation of the function bearer is not sufficient.
               A protein’s function “to transport” is
                   realized by transport processes,
                   in which the protein participates
                   as a transporter.
               Mode of participation in a process necessary to understand
               realizations.
               Use of processual or relational roles/qua entities
Introduction         Functions and dispositions                    Conclusions



Ontology of Functions (OF)




                                              Conceptual framework to
                                              model functions
                                              Implemented in OWL
Introduction                         Functions and dispositions         Conclusions


Ontology of Functions (OF)
Open questions




               What is the relation between function and disposition?
               What is the relation between function and causality?
               How do functions come into being?
               What is a function?
Introduction                        Functions and dispositions       Conclusions


Larry Wright
Reducing function to causality




       The function of X is Z means
          1    X is there because it does Z ,
          2    Z is a consequence (or result) of X ’s being there.
Introduction                        Functions and dispositions                 Conclusions


John Searle
Functions as social concepts




               All functions are socially ascribed by an agent to an object.
               Functions are always observer-relative.
               Function ascription is based on brute facts.
Introduction                        Functions and dispositions   Conclusions


Nicolai Hartmann
Function ascription and causality




          1    Setting a goal (in the future)
          2    Planning the goal’s realization
          3    Realizing the goal (causally)

               (1) and (2) create functionality
               Must realization be possible?
Introduction                        Functions and dispositions             Conclusions


Malfunctionings
Overview




               Setting a goal
               Planning
               No realization possible: missing disposition
               Malfunctioning is function without disposition.
               Functionality does not imply causality.
               But: normally, function-bearers have the disposition to realize
               their function.
               Normally, entities do not malfunction.
Introduction                       Functions and dispositions             Conclusions


Malfunctionings
Formal characterization



       If e has the function f (with goal Tgoal ), and e is not
       malfunctioning, then e has a disposition with goal Tgoal .

               A(mf ) = hasFunction(e, f ) ∧ f :: F ∧ ¬mf (e) →
                     ∃d(d :: D ∧ isa(D, Disposition) ∧ inheresIn(d, e)∧
                     Treq (F ) = Treq (D) ∧ Tgoal (F ) = Tgoal (D))
Introduction                       Functions and dispositions             Conclusions


Malfunctionings
Formal characterization



       If e has the function f (with goal Tgoal ), and e is not
       malfunctioning, then e has a disposition with goal Tgoal .

               A(mf ) = hasFunction(e, f ) ∧ f :: F ∧ ¬mf (e) →
                     ∃d(d :: D ∧ isa(D, Disposition) ∧ inheresIn(d, e)∧
                     Treq (F ) = Treq (D) ∧ Tgoal (F ) = Tgoal (D))

       Normally, e is not malfunctioning.

                    A(mf )∧∀P((A(P) ∧ ∀x(P(x) → mf (x))) →
                             (∀x(P(x) ↔ mf (x))))
Introduction                         Functions and dispositions              Conclusions


Malfunctionings
Non-monotonicity




       Classical (monotonic) inference:

                                  S ⊆ T → S |= ⊆ T |=


               non-monotonic inference permits default reasoning
               e is not malfunctioning as long as not proven otherwise
               use of default logics, circumscription or auto-epistemic logics
               implementation using answer-set programming
Introduction                        Functions and dispositions              Conclusions


Application
Functions and malfunctionings




               Human (functional) anatomy: Ear CC-hasFunction Hearing
               ∀x(x :: Ear → ∃y (y :: Hearing ∧ II-hasFunction(x, y )))
               Disposition D to participate in hearing processes (realization)
               as receiver (role)
               If an instance e of Ear is not malfunctioning, it has a
               disposition d (which is an instance of D).
               Normally, instances of Ear are not malfunctioning (with
               respect to Hearing ).
               Deafness (HP:0000404) implies malfunctioning of its bearer
               w.r.t. Hearing
Introduction                          Functions and dispositions           Conclusions



Summary



               BFO’s definition of function needs refinement.
               Philosophical explanations of biological functions can be
               divided in:
                    reductions to causality
                    social ascription
               each relates functionality to causality
               most use normality or typicality
               non-monotonic reasoning is necessary to formalize normality
               focus on necessary conditions and inferences instead of
               definitions for function
Introduction                     Functions and dispositions   Conclusions



Acknowledgements




               Heinrich Herre
               Janet Kelso
               Patryk Burek
               Frank Loebe
               Hannes Michalek
Introduction    Functions and dispositions   Conclusions




               Thank you!
Introduction                         Functions and dispositions               Conclusions



Dispositions



       An individual e has the disposition d to cause an instance of Tgoal
       iff e causes a situation s :: Tgoal whenever e is placed in the right
       circumstances.
               Describe “in the right circumstances” using a
               situational/relational role.
               Dispositions are possibilities to cause certain states of affairs
               to become factual.
               What is the relation between function and disposition?

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Relating functions and dispositions using nonmonotonic reasoning

  • 1. Introduction Functions and dispositions Conclusions Relating functions and dispositions using nonmonotonic reasoning Robert Hoehndorf1,2 , Janet Kelso2 , Heinrich Herre1 1 Institute for Informatics and Research Group Ontologies in Medicine, Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig 2 Department of Evolutionary Genetics, Max-Planck-Institute for Evolutionary Anthropology
  • 2. Introduction Functions and dispositions Conclusions Functions in biomedical ontologies Gene Ontology (molecule function) Celltype Ontology (cell function) FMA, Anatomie (organ function) Disease Ontology, (Human/Mammalian) Phenotype Ontology (malfunctioning) OBI (device function) Protein Ontology
  • 3. Introduction Functions and dispositions Conclusions Functions in biomedical ontologies A solved problem? A function f is 1 a realizable dependent continuant, which 2 has a bearer which is an independent continuant, and 3 is of a type instances of which typically have realizations; each realization is 1 a process in which the bearer is a participant, 2 that occurs in virtue of the bearer’s physical makeup, 3 this physical make-up is something which that bearer possesses because of how it came into being. Arp and Smith, 2008
  • 4. Introduction Functions and dispositions Conclusions Functions in biomedical ontologies BFO: The function of the heart is to make thumping noises A function f is a realizable dependent continuant, which “To make thumping noises” is realizable.
  • 5. Introduction Functions and dispositions Conclusions Functions in biomedical ontologies BFO: The function of the heart is to make thumping noises A function f is a realizable dependent continuant, which “To make thumping noises” is realizable. has a bearer which is an independent continuant, and The heart is an independent continuant.
  • 6. Introduction Functions and dispositions Conclusions Functions in biomedical ontologies BFO: The function of the heart is to make thumping noises A function f is a realizable dependent continuant, which “To make thumping noises” is realizable. has a bearer which is an independent continuant, and The heart is an independent continuant. is of a type instances of which typically have realizations; “To make thumping noises” is typically realized.
  • 7. Introduction Functions and dispositions Conclusions Functions in biomedical ontologies BFO: The function of the heart is to make thumping noises Each realization is a process in which the bearer is a participant, Hearts participate in thumping-noise-making processes.
  • 8. Introduction Functions and dispositions Conclusions Functions in biomedical ontologies BFO: The function of the heart is to make thumping noises Each realization is a process in which the bearer is a participant, Hearts participate in thumping-noise-making processes. that occurs in virtue of the bearer’s physical makeup, Thumping-noise-making occurs due to the physical makeup of the heart.
  • 9. Introduction Functions and dispositions Conclusions Functions in biomedical ontologies BFO: The function of the heart is to make thumping noises Each realization is a process in which the bearer is a participant, Hearts participate in thumping-noise-making processes. that occurs in virtue of the bearer’s physical makeup, Thumping-noise-making occurs due to the physical makeup of the heart. this physical make-up is something which that bearer possesses because of how it came into being. Heart possess their makeup due to how they came into being.
  • 10. Introduction Functions and dispositions Conclusions Functions in biomedical ontologies BFO: The function of the heart is to make thumping noises Each realization is a process in which the bearer is a participant, Hearts participate in thumping-noise-making processes. that occurs in virtue of the bearer’s physical makeup, Thumping-noise-making occurs due to the physical makeup of the heart. this physical make-up is something which that bearer possesses because of how it came into being. Heart possess their makeup due to how they came into being. Therefore: The function of the heart is to make thumping noises. (BFO)
  • 11. Introduction Functions and dispositions Conclusions Functions in biomedical ontologies Function in BFO functions may “typically” not be realized: sperm cells functions may be acquired after through transformation (not at time of creation): angiotensin I to angiotensin II what is a realization?
  • 12. Introduction Functions and dispositions Conclusions Functions in biomedical ontologies Realizations What makes a process a realization of a function? Participation of the function bearer is not sufficient. A protein’s function “to transport” is realized by transport processes, in which the protein participates as a transporter. Mode of participation in a process necessary to understand realizations. Use of processual or relational roles/qua entities
  • 13. Introduction Functions and dispositions Conclusions Ontology of Functions (OF) Conceptual framework to model functions Implemented in OWL
  • 14. Introduction Functions and dispositions Conclusions Ontology of Functions (OF) Open questions What is the relation between function and disposition? What is the relation between function and causality? How do functions come into being? What is a function?
  • 15. Introduction Functions and dispositions Conclusions Larry Wright Reducing function to causality The function of X is Z means 1 X is there because it does Z , 2 Z is a consequence (or result) of X ’s being there.
  • 16. Introduction Functions and dispositions Conclusions John Searle Functions as social concepts All functions are socially ascribed by an agent to an object. Functions are always observer-relative. Function ascription is based on brute facts.
  • 17. Introduction Functions and dispositions Conclusions Nicolai Hartmann Function ascription and causality 1 Setting a goal (in the future) 2 Planning the goal’s realization 3 Realizing the goal (causally) (1) and (2) create functionality Must realization be possible?
  • 18. Introduction Functions and dispositions Conclusions Malfunctionings Overview Setting a goal Planning No realization possible: missing disposition Malfunctioning is function without disposition. Functionality does not imply causality. But: normally, function-bearers have the disposition to realize their function. Normally, entities do not malfunction.
  • 19. Introduction Functions and dispositions Conclusions Malfunctionings Formal characterization If e has the function f (with goal Tgoal ), and e is not malfunctioning, then e has a disposition with goal Tgoal . A(mf ) = hasFunction(e, f ) ∧ f :: F ∧ ¬mf (e) → ∃d(d :: D ∧ isa(D, Disposition) ∧ inheresIn(d, e)∧ Treq (F ) = Treq (D) ∧ Tgoal (F ) = Tgoal (D))
  • 20. Introduction Functions and dispositions Conclusions Malfunctionings Formal characterization If e has the function f (with goal Tgoal ), and e is not malfunctioning, then e has a disposition with goal Tgoal . A(mf ) = hasFunction(e, f ) ∧ f :: F ∧ ¬mf (e) → ∃d(d :: D ∧ isa(D, Disposition) ∧ inheresIn(d, e)∧ Treq (F ) = Treq (D) ∧ Tgoal (F ) = Tgoal (D)) Normally, e is not malfunctioning. A(mf )∧∀P((A(P) ∧ ∀x(P(x) → mf (x))) → (∀x(P(x) ↔ mf (x))))
  • 21. Introduction Functions and dispositions Conclusions Malfunctionings Non-monotonicity Classical (monotonic) inference: S ⊆ T → S |= ⊆ T |= non-monotonic inference permits default reasoning e is not malfunctioning as long as not proven otherwise use of default logics, circumscription or auto-epistemic logics implementation using answer-set programming
  • 22. Introduction Functions and dispositions Conclusions Application Functions and malfunctionings Human (functional) anatomy: Ear CC-hasFunction Hearing ∀x(x :: Ear → ∃y (y :: Hearing ∧ II-hasFunction(x, y ))) Disposition D to participate in hearing processes (realization) as receiver (role) If an instance e of Ear is not malfunctioning, it has a disposition d (which is an instance of D). Normally, instances of Ear are not malfunctioning (with respect to Hearing ). Deafness (HP:0000404) implies malfunctioning of its bearer w.r.t. Hearing
  • 23. Introduction Functions and dispositions Conclusions Summary BFO’s definition of function needs refinement. Philosophical explanations of biological functions can be divided in: reductions to causality social ascription each relates functionality to causality most use normality or typicality non-monotonic reasoning is necessary to formalize normality focus on necessary conditions and inferences instead of definitions for function
  • 24. Introduction Functions and dispositions Conclusions Acknowledgements Heinrich Herre Janet Kelso Patryk Burek Frank Loebe Hannes Michalek
  • 25. Introduction Functions and dispositions Conclusions Thank you!
  • 26. Introduction Functions and dispositions Conclusions Dispositions An individual e has the disposition d to cause an instance of Tgoal iff e causes a situation s :: Tgoal whenever e is placed in the right circumstances. Describe “in the right circumstances” using a situational/relational role. Dispositions are possibilities to cause certain states of affairs to become factual. What is the relation between function and disposition?