Francesco Vetrini<\/a> are the cold-case investigators of genetic disease.<\/p>\n\u201cWe are examining direct evidence, indirect evidence, supporting evidence \u2014 and then maybe there\u2019s the smoking gun,\u201d Vetrini said. \u201cIt\u2019s very exciting when you can solve it. I feel this \u2018eureka\u2019 sensation when we can turn to a family and say, \u2018We have the smoking gun; this is the causative gene mutation in your family.\u2019\u201d<\/p>\n
Although diagnosis might not immediately change a patient\u2019s treatment path, it does provide a sense of relief. It can also pave the way for insurance coverage or federal assistance programs, and it can ultimately lead to new therapies.<\/p>\n
In Madison\u2019s case, whole genome sequencing \u2014 the most comprehensive DNA testing available \u2014 turned up variants on the DOCK3 gene inherited from both parents. But when Madison\u2019s initial genetic testing was done, scientists didn\u2019t know if defects on DOCK3 could result in a specific syndrome.<\/p>\n
Madison is now on the cutting edge of medical science, part of a tiny cohort identified with a DOCK3-related neurodevelopmental disorder that causes intellectual disability, weak muscle tone and lack of coordination. Her case will help medical geneticists worldwide to understand the disease\u2019s traits and progression over time.<\/p>\n
\u201cI always knew she was destined for greatness,\u201d Hardman said. \u201cShe\u2019s part of something bigger than herself.\u201d<\/p>\n
That fits perfectly with the now 10-year-old Madison\u2019s personality. Her mom calls her \u201cthe most caring, empathetic child I\u2019ve ever known.\u201d She loves music of all types, from Prince to Taylor Swift, and enjoys helping others.<\/p>\n
Having a diagnosis doesn\u2019t change Madison\u2019s daily struggles, but there is peace that comes from knowing the cause of Madison\u2019s developmental delays, Hardman said.<\/p>\n
She will never forget the day genetic counselor Kayla Treat called from the IU rare disease clinic to say, \u201cWe have an answer.\u201d<\/p>\n
\u201cI just started bawling my eyes out,\u201d Hardman said. \u201cTo finally have an answer that explains everything was mind-blowing.\u201d<\/p>\n
IU\u2019s genetic detectives: \u2018We keep looking for clues\u2019<\/p>\n
There are more than 20,000 genes in the human genome, but scientists only know what roughly 7,500 of them do. In Madison\u2019s case, scientific knowledge about the DOCK3 gene had to catch up before a diagnosis could be made.<\/p>\n
\u201cThis case underscores how our commitment to long-term patient follow-up, coupled with the periodic re-evaluation of clinical and genomic data, was crucial in diagnosing this and other challenging cases,\u201d Vetrini said.<\/p>\n
Getting to that exhilarating moment of a diagnosis takes a dedicated, multidisciplinary team. IU\u2019s Undiagnosed Rare Disease Clinic presents tough cases to its Genome Board, consisting of IU biomedical geneticists, genetic counselors, disease and genomics experts, lab directors, analysts, rare disease postdocs, and other interested researchers and learners.<\/p>\n
IU researchers also connect with colleagues nationally and globally through the Undiagnosed Diseases Network and through GeneMatcher, a platform connecting researchers, clinicians and patients who share an interest in the same gene.<\/p>\n
\u201cAs the knowledge about variants and genes evolves and improves over time, we keep reanalyzing the data of patients and looking for new clues that lead, eventually, to definitive answers,\u201d Vetrini said.<\/p>\n
That persistence means the world to families like Madison\u2019s.<\/p>\n
\u201cEveryone at the rare disease clinic has been so caring and answered every question as I try to understand Madison\u2019s gene anomaly,\u201d Hardman said. \u201cThey are learning things as we are learning.\u201d<\/p>\n","protected":false},"excerpt":{"rendered":"The IU Impact: We bring hope to families by providing answers for their ultra-rare medical mysteries and use…\n","protected":false},"author":3,"featured_media":149026,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[26],"tags":[3653,10382,815,1142,15727,65595,1941,3725,87730,159,67,132,68],"class_list":{"0":"post-149025","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-genetics","8":"tag-biotech","9":"tag-ethics-and-research-methods","10":"tag-genetics","11":"tag-healthcare","12":"tag-indiana-university","13":"tag-neuro","14":"tag-newswise","15":"tag-personalized-medicine","16":"tag-rare-diseasemedicinehealth-medicine","17":"tag-science","18":"tag-united-states","19":"tag-unitedstates","20":"tag-us"},"share_on_mastodon":{"url":"https:\/\/pubeurope.com\/@us\/115035325675687270","error":""},"_links":{"self":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/posts\/149025","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/users\/3"}],"replies":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/comments?post=149025"}],"version-history":[{"count":0,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/posts\/149025\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/media\/149026"}],"wp:attachment":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/media?parent=149025"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/categories?post=149025"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/tags?post=149025"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}