Lecture 7 Flashcards
what are even more rare than rare diseases?
undiagnosed disease
what are even more rare than rare diseases?
undiagnosed disease
what is the definition of rare based on?
the frequency of the disease → 1:10,000, 1:5000 is quite rare
why is a rare disease better than an undiagnosed disease?
because we have at least some knowledge of the phenotype, symptoms, and characteristics
what program did the US put into place 10 years ago to manage unnamed conditions?
Undiagnosed Disease Program (UDP)
what does the UDP deal with?
new syndromes, rare disease, and unusual presentations of known disease
what is the aim of the UDN?
to provide wider access to cross-disciplinary expertise and to leverage specific advantages of the collaborative network such as deep subtypes of expertise, as well as to evaluate clinical cases that have an unclear or never described phenotype →collaborative network
what does the UDN do with the information they gain?
report the results of their evaluation from a clinical and genetic point of view → the sharing of this information is important and fundamental for other clinics as well all over the world to classify patients with the same or similar phenotype in order to increase the diagnosis of other patients with unnamed disorders
how does the UDN work?
cases are submitted by the patients themselves or the clinician, which are all discussed weekly at Harvard, and evaluated based on information provided and chosen for analysis
what is the main goal of the UDN?
to share the findings in order to improve the diagnosis of other cases with similar phenotypes
what is an important tool that is used to better characterize the phenotype considering all the symptoms?
Human Phenotype Ontology (HPO) → a list of codes associated with all human symptoms considering all the phenotypes that are described and known
what does the use of the HPO allow for?
possible to standardize the clinical characteristics of a specific phenotype
what does the UDN use to analyze patents and perform sequencing?
Illumina platform → after the paired end sequencing (read 1 and read 2) they complete the primary, secondary, and tertiary analysis and at the end of the process it is necessary to filter out all the variants that are probably not associated with that phenotype
what criteria does the UDN use?
uses the American College of Medical Genetic’s guidelines
what is the program analogous to the UDN in Italy?
an undiagnosed diseased program granted by Telethon performed in TIGEM (Naples) → idea is the same: collect all the genetic cases in which the clinical description is not clear