Diagnosoimattomia häiriöitä omaavien yksilöiden kliininen ja geneettinen arviointi diagnosoimattomien sairauksien verkoston kautta
torstai 16. heinäkuuta 2026 päivittänyt: National Human Genome Research Institute (NHGRI)
Diagnosoimattomien sairauksien potilaiden kliininen ja geneettinen arviointi diagnosoimattomien sairauksien verkoston kautta
Tausta:
- Ilman selitystä vaikeille ja joskus hengenvaarallisille oireille potilaat ja heidän omaiset jäävät tuntemattomaan tilaan. NIH auttoi luomaan lääketieteellisten tutkimuskeskusten verkoston, nimeltään Undiagnosed Diseases Network (UDN), joka tarjoaa hoitoa ja vastauksia näille henkilöille.
Tavoitteet:
- Parantaa diagnosoimattomien sairauksien diagnosointia ja hoitoa.
Kelpoisuus:
- Ihmiset, joilla on diagnosoimaton sairaus, ja heidän omaiset.
Design:
Osallistujat matkustavat yhteen UDN:n lääketieteellisistä keskuksista 5 päivän kliiniselle ja tutkimuskäynnille.
Osana vierailua UDN-terveydenhuollon tarjoajat voivat pyytää osallistujilta:
Tehdyt kliinisesti indikoidut testit ja toimenpiteet, mukaan lukien:
- Fyysinen koe
- Veri- ja virtsakokeet
- Katsaus terveydentilasta ja sukuhistoriasta
- Röntgenkuvat ja kehon skannaukset
- Kyselyt
- Valokuvia kasvoista ja vartalosta
- Erikoisruokavalio, jolla nähdään, kestääkö elimistö ruokaa ilman reaktiota, kuten oksentelua
- Video- tai äänitallenteet
- Muut testit ja menettelyt diagnoosin saavuttamiseksi
Suoritetut tutkimustestit ja -toimenpiteet, mukaan lukien:
- Ihon biopsia. Tätä varten otetaan pieni pala ihoa.
- Kyselyt
- Muut tutkimuksen testit ja menettelyt, jotka eivät välttämättä liity diagnoosiin tai hoitoon.
- Useimpia osallistujia pyydetään antamaan näytteitä geneettistä testausta varten.
- Osallistujiin voidaan ottaa yhteyttä vierailun jälkeen keskustellakseen testituloksista. Heihin voidaan myös ottaa yhteyttä jatkossa haastatteluja ja kyselyjä varten.
- Osallistujien sukulaisia voidaan pyytää antamaan näytteitä geneettistä testausta varten. Heitä voidaan pyytää tallentamaan osa vierailustaan ja tekemään lisäkokeita. Heihin voidaan myös ottaa yhteyttä jatkossa haastatteluja ja kyselyjä varten.
- Kerätyt kliiniset ja tutkimustiedot tallennetaan tietokantaan.
- Kerätyt tiedot ja näytteet jaetaan muiden kanssa tutkimustarkoituksiin.
Tutkimuksen yleiskatsaus
Tila
Rekrytointi
Ehdot
Yksityiskohtainen kuvaus
Ilman selitystä vakaville ja joskus hengenvaarallisille oireille potilaat ja heidän perheensä jäävät tuntemattomaan tilaan.
Monet ihmiset joutuvat siirtymään lääkäriltä toiselle, ja he käyvät läpi lukemattomia ja usein toistuvia testejä toivoen löytävänsä vastauksia ja näkemystä tulevaisuudesta.
Tämä pitkä ja vaivalloinen matka diagnoosin löytämiseksi ei lopu monille potilaille – Harvinaisten sairauksien tutkimustoimisto (ORDR) huomauttaa, että 6 prosentilla apua hakevista henkilöistä on diagnosoimaton sairaus.
Vuonna 2008 perustettiin National Institutes of Healthin (NIH) diagnosoimattomien sairauksien ohjelma (UDP), jonka tavoitteena on tarjota hoitoa ja vastauksia ihmisille, joilla on mystisiä sairauksia ja jotka ovat pitkään välttyneet diagnoosista.
NIH UDP on NIH ORDR:n, National Human Genome Research Institute Intramural Research Programin (NHGRI-IRP) ja NIH Clinical Research Centerin (CRC) yhteisyritys.
NIH UDP:n tavoitteet ovat: (1) tarjota vastauksia potilaille, joilla on diagnosoimattomia sairauksia; (2) luoda uutta tietoa sairausmekanismeista; (3) arvioida uusien lähestymistapojen soveltamista fenotyypitykseen ja genomitekniikoiden käyttöön; ja (4) tunnistaa mahdolliset terapeuttiset kohteet, jos mahdollista.
Ennen Undiagnosed Diseases Network (UDN) -verkoston muodostamista UDP oli arvioinut 3 300 sairauskertomusta, ottanut 750 yksilöä, joilla oli harvinaisia ja diagnosoimattomia sairauksia, NIH:n kliiniseen keskukseen ja tunnistanut yli 70 harvinaista sairautta ja useita uusia sairauksia.
NIH UDP:n menestys sai NIH Common Fundin tukemaan lääketieteellisten tutkimuskeskusten verkoston, UDN:n, perustamista tilivuosille 2013-2022.
Kliiniset paikat tekevät laajoja fenotyypitys-, geneettisiä analyysejä ja toiminnallisia tutkimuksia mahdollisista sairauksia aiheuttavista varianteista.
Potilaille suoritettavat testaukset sisältävät lääketieteellisesti indikoituja tutkimuksia, joiden tarkoituksena on auttaa diagnoosin saavuttamisessa, sekä tutkimustutkimuksia, jotka sisältävät ihobiopsian, verikokeet ja DNA-analyysin.
Lisäksi UDN edistää UDP:n tavoitteita sallimalla henkilökohtaisesti tunnistettavien fenotyyppi- ja genotyyppitietojen jakamisen verkon sisällä.
Jakamalla osallistujatietoja ja kannustamalla yhteistyöhön UDN toivoo parantavansa harvinaisten sairauksien ymmärrystä ja edistävänsä diagnosointiprosessia ja diagnosoimattomien sairauksien hoitoa.
Opintotyyppi
Havainnollistava
Ilmoittautuminen (Arvioitu)
20000
Yhteystiedot ja paikat
Tässä osiossa on tutkimuksen suorittajien yhteystiedot ja tiedot siitä, missä tämä tutkimus suoritetaan.
Opiskeluyhteys
- Nimi: Paul Mazur
- Puhelinnumero: (844) 746-4836
- Sähköposti: udn@hms.harvard.edu
Opiskelupaikat
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Alabama
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Birmingham, Alabama, Yhdysvallat, 35233
- Rekrytointi
- University of Alabama at Birmingham
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Ottaa yhteyttä:
- Bruce Korf, M.D.
- Sähköposti: bkorf@uab.edu
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Huntsville, Alabama, Yhdysvallat, 35806
- Valmis
- HudsonAlpha Institute for Biotechnology, Inc.
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California
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Los Angeles, California, Yhdysvallat, 90095
- Rekrytointi
- University of California, Los Angeles
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Ottaa yhteyttä:
- Stanley Nelson, M.D.
- Puhelinnumero: 310-794-7981
- Sähköposti: snelson@ucla.edu
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Orange, California, Yhdysvallat, 92668
- Rekrytointi
- University of California, Irvine Medical Center
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Ottaa yhteyttä:
- Changrui Xiao, M.D.
- Puhelinnumero: 714-456-7720
- Sähköposti: changrx@hs.uci.edu
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Stanford, California, Yhdysvallat, 94305
- Rekrytointi
- Leland Stanford Junior University
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Ottaa yhteyttä:
- Euan Ashley, MD, PhD
- Puhelinnumero: Not Listed
- Sähköposti: euan@stanford.edu
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Stanford, California, Yhdysvallat, 94305
- Rekrytointi
- Stanford Hospital and Clinics
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Ottaa yhteyttä:
- Jonathan Bernstein, MD, PhD
- Puhelinnumero: Not Listed
- Sähköposti: jon.bernstein@stanford.edu
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Stanford, California, Yhdysvallat, 94020
- Valmis
- Lucile Salter Packard Children's Hospital at Stanford
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Stanford, California, Yhdysvallat, 94305-5584
- Rekrytointi
- Stanford University
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Ottaa yhteyttä:
- Euan Ashley, M.D.
- Puhelinnumero: 650-736-1147
- Sähköposti: euan@stanford.edu
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District of Columbia
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Washington D.C., District of Columbia, Yhdysvallat, 20010
- Rekrytointi
- Childrens National Medical Center
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Ottaa yhteyttä:
- Eric Vilain, M.D.
- Puhelinnumero: 202-476-3216
- Sähköposti: evilain@childrensnational.org
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Florida
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Miami, Florida, Yhdysvallat, 33136
- Rekrytointi
- University of Miami Miller School of Medicine
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Ottaa yhteyttä:
- Mustafa Tekin, MD
- Puhelinnumero: 305-243-2381
- Sähköposti: mtekin@med.miami.edu
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Illinois
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Chicago, Illinois, Yhdysvallat, 60611
- Ei vielä rekrytointia
- Lurie Children s Hospital
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Ottaa yhteyttä:
- Carlos Prada, M.D.
- Puhelinnumero: 513-304-8906
- Sähköposti: cprada@luriechildrens.org
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Indiana
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Indianapolis, Indiana, Yhdysvallat, 46202-5262
- Rekrytointi
- Indiana University
-
Ottaa yhteyttä:
- Stephane Ware, M.D.
- Puhelinnumero: 317-274-8938
- Sähköposti: stware@iu.edu
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Maryland
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Bethesda, Maryland, Yhdysvallat, 20892
- Rekrytointi
- National Institutes of Health Clinical Center
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Ottaa yhteyttä:
- For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
- Puhelinnumero: TTY dial 711 800-411-1222
- Sähköposti: ccopr@nih.gov
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Massachusetts
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Boston, Massachusetts, Yhdysvallat, 02115
- Rekrytointi
- Brigham and Women's Hospital
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Ottaa yhteyttä:
- David Sweetser, M.D., Ph.D.
- Puhelinnumero: 617-726-1742
- Sähköposti: dsweetser@partners.org
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Boston, Massachusetts, Yhdysvallat, 02114
- Rekrytointi
- Massachusetts General Hospital
-
Ottaa yhteyttä:
- David Sweetser, M.D.
- Puhelinnumero: 617-726-1742
- Sähköposti: dsweetser@partners.org
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Boston, Massachusetts, Yhdysvallat, 02115
- Rekrytointi
- Boston Children s Hospital
-
Ottaa yhteyttä:
- Ingrid Holm, M.D.
- Puhelinnumero: 617-919-2338
- Sähköposti: ingrid.holm@childrens.harvard.edu
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Boston, Massachusetts, Yhdysvallat, 02115
- Ei vielä rekrytointia
- Harvard U Faculty of Medicine
-
Ottaa yhteyttä:
- Isaac Kohane
- Puhelinnumero: Not Listed
- Sähköposti: isaac_kohane@harvard.edu
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Boston, Massachusetts, Yhdysvallat, 02115
- Valmis
- Harvard T.H. Chan School of Public Health
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Minnesota
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Rochester, Minnesota, Yhdysvallat, 55905
- Rekrytointi
- Mayo Clinic
-
Ottaa yhteyttä:
- Brendan Lanpher
- Sähköposti: lanpher.brendan@mayo.edu
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Missouri
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St Louis, Missouri, Yhdysvallat, 63110
- Rekrytointi
- Washington University in St. Louis
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Ottaa yhteyttä:
- Patricia Dickson
- Puhelinnumero: Not Listed
- Sähköposti: pdickson@wustl.edu
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New York
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New York, New York, Yhdysvallat, 10013
- Aktiivinen, ei rekrytointi
- New York Genome Center
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North Carolina
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Durham, North Carolina, Yhdysvallat, 27710
- Rekrytointi
- Duke University Health System
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Ottaa yhteyttä:
- Vandana Shashi, MD
- Puhelinnumero: Not Listed
- Sähköposti: Vandana.shashi@duke.edu
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Oregon
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Eugene, Oregon, Yhdysvallat, 97403
- Ei vielä rekrytointia
- University of Oregon
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Ottaa yhteyttä:
- Monte Westerfield, PhD
- Puhelinnumero: Not Listed
- Sähköposti: monte@uoneuro.uoregon.edu
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Portland, Oregon, Yhdysvallat, 97201-3098
- Valmis
- Oregon Health Sciences University
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Pennsylvania
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Philadelphia, Pennsylvania, Yhdysvallat, 19104
- Rekrytointi
- Children's Hospital of Philadelphia
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Ottaa yhteyttä:
- Kathleen Sullivan, M.D.
- Puhelinnumero: Not Listed
- Sähköposti: sullivank@email.chop.edu
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Philadelphia, Pennsylvania, Yhdysvallat, 19104-6056
- Rekrytointi
- University of Pennsylvania
-
Ottaa yhteyttä:
- Daniel Rader, M.D.
- Sähköposti: rader@pennmedicine.upenn.edu
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Tennessee
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Nashville, Tennessee, Yhdysvallat, 37232
- Rekrytointi
- Vanderbilt University Medical Center
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Ottaa yhteyttä:
- Rizwan Hamid, M.D.
- Sähköposti: rizwan.hamid@vumc.org
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Texas
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Houston, Texas, Yhdysvallat, 77030
- Rekrytointi
- Baylor College of Medicine
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Ottaa yhteyttä:
- Brendan Lee, M.D.
- Puhelinnumero: 713-798-8835
- Sähköposti: blee@bcm.edu
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Utah
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Salt Lake City, Utah, Yhdysvallat, 84112
- Rekrytointi
- University of Utah
-
Ottaa yhteyttä:
- Lorenzo Botto, M.D.
- Puhelinnumero: 801-581-8943
- Sähköposti: lorenzo.botto@hsc.utah.edu
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Washington
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Richland, Washington, Yhdysvallat, 99354
- Valmis
- Pacific Northwest National Laboratory
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Seattle, Washington, Yhdysvallat, 98195
- Rekrytointi
- University of Washington
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Ottaa yhteyttä:
- Gail Jarvik, M.D.
- Puhelinnumero: Not Listed
- Sähköposti: pair@uw.edu
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Seattle, Washington, Yhdysvallat, 98101
- Rekrytointi
- Seattle Children's Hospital
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Ottaa yhteyttä:
- Katrina Dipple, MD, PhD
- Puhelinnumero: Not Listed
- Sähköposti: katrina.dipple@seattlechildrens.org
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Wisconsin
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Milwaukee, Wisconsin, Yhdysvallat, 53226
- Rekrytointi
- Medical College of Wisconsin
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Osallistumiskriteerit
Tutkijat etsivät ihmisiä, jotka sopivat tiettyyn kuvaukseen, jota kutsutaan kelpoisuuskriteereiksi. Joitakin esimerkkejä näistä kriteereistä ovat henkilön yleinen terveydentila tai aiemmat hoidot.
Kelpoisuusvaatimukset
Opintokelpoiset iät
1 kuukausi - 100 vuotta (Lapsi, Aikuinen, Vanhempi Aikuinen)
Hyväksyy terveitä vapaaehtoisia
Joo
Näytteenottomenetelmä
Ei-todennäköisyysnäyte
Tutkimusväestö
Yksilöt, joilla on diagnosoimattomia sairauksia
Kuvaus
- SISÄLLYTTÄMISKRITEERIT:
Ihanteellisia UDN-hakijoita ovat henkilöt, joilla on:
- Yksi tai useampi objektiivinen löydös, joka liittyy siihen fenotyyppiin, jota varten UDN-hakemus jätettiin.
- Ei diagnoosia, vaikka vähintään kaksi asiantuntijaa arvioi potilaan objektiivisten löydösten perusteella.
- Sopimus tietojen ja biomateriaalien tallentamisesta ja jakamisesta tunnistetulla tavalla UDN-keskusten kesken ja tunnistamattomalla tavalla verkon ulkopuolisille tutkimuspaikoille.
- Hakijat, jotka eivät pysty antamaan suostumusta, voidaan ilmoittautua.
POISTAMISKRITEERIT:
-Hakijoita, joita ei todennäköisesti hyväksytä, ovat henkilöt, joilla on:
- Raportoidut oireet ilman relevantteja objektiivisia löydöksiä.
- Diagnoosi, joka selittää objektiiviset löydökset.
- Diagnoosi ehdotettu tietueen tarkastelussa.
- Haluttomuus jakaa tietoja.
Opintosuunnitelma
Tässä osiossa on tietoja tutkimussuunnitelmasta, mukaan lukien kuinka tutkimus on suunniteltu ja mitä tutkimuksella mitataan.
Miten tutkimus on suunniteltu?
Suunnittelun yksityiskohdat
- Havaintomallit: Vain tapaus
- Aikanäkymät: Tulevaisuuden
Kohortit ja interventiot
Ryhmä/Kohortti |
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Diagnosoimattomat häiriöt
Potilaat, joilla on harvinaisia diagnosoimattomia sairauksia.
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Mitä tutkimuksessa mitataan?
Ensisijaiset tulostoimenpiteet
Tulosmittaus |
Toimenpiteen kuvaus |
Aikaikkuna |
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Luo integroitu ja yhteistyökykyinen tutkimusyhteisö useisiin kliinisiin kohteisiin sekä laboratorio- ja kliinisten tutkijoiden välille, jotka ovat valmiita tutkimaan näiden uusien ja harvinaisten sairauksien patofysiologiaa, diagnostisten tutkimusten vaikutuksia...
Aikaikkuna: Päivät 1-5 ja seuranta
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Luo integroitu ja yhteistyöhön perustuva tutkimusyhteisö useisiin kliinisiin kohteisiin sekä laboratorio- ja kliinisten tutkijoiden välille, jotka ovat valmiita tutkimaan näiden uusien ja harvinaisten sairauksien patofysiologiaa, diagnostisen prosessin vaikutusta potilaisiin ja perheisiin. potilaan hoito.
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Päivät 1-5 ja seuranta
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Helpottaa diagnosoimattomien sairauksien etiologian tutkimusta keräämällä ja jakamalla standardoitua, korkealaatuista kliinistä ja laboratoriotietoa, mukaan lukien genotyypit, fenotyypit ja ympäristöaltistuksen dokumentointi
Aikaikkuna: Päivät 1-5 ja seuranta
|
Helpottaa diagnosoimattomien sairauksien etiologian tutkimusta keräämällä ja jakamalla standardoitua, korkealaatuista kliinistä ja laboratoriotietoa, mukaan lukien genotyypit, fenotyypit ja ympäristöaltistuksen dokumentointi.
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Päivät 1-5 ja seuranta
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Parantaa diagnosoimattomien sairauksien potilaiden diagnosoinnin ja hoidon tasoa kehittämällä laajennetun tutkijayhteisön suunnittelemia yhteisiä ja paikkakohtaisia protokollia.
Aikaikkuna: Päivät 1-5 ja seuranta
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Paranna diagnosoimattomien sairauksien potilaiden diagnosoinnin ja hoidon tasoa kehittämällä laajennetun tutkijayhteisön suunnittelemia yhteisiä ja paikkakohtaisia protokollia.
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Päivät 1-5 ja seuranta
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Yhteistyökumppanit ja tutkijat
Täältä löydät tähän tutkimukseen osallistuvat ihmiset ja organisaatiot.
Tutkijat
- Päätutkija: William A Gahl, M.D., National Human Genome Research Institute (NHGRI)
Julkaisuja ja hyödyllisiä linkkejä
Tutkimusta koskevien tietojen syöttämisestä vastaava henkilö toimittaa nämä julkaisut vapaaehtoisesti. Nämä voivat koskea mitä tahansa tutkimukseen liittyvää.
Yleiset julkaisut
- Splinter K, Adams DR, Bacino CA, Bellen HJ, Bernstein JA, Cheatle-Jarvela AM, Eng CM, Esteves C, Gahl WA, Hamid R, Jacob HJ, Kikani B, Koeller DM, Kohane IS, Lee BH, Loscalzo J, Luo X, McCray AT, Metz TO, Mulvihill JJ, Nelson SF, Palmer CGS, Phillips JA 3rd, Pick L, Postlethwait JH, Reuter C, Shashi V, Sweetser DA, Tifft CJ, Walley NM, Wangler MF, Westerfield M, Wheeler MT, Wise AL, Worthey EA, Yamamoto S, Ashley EA; Undiagnosed Diseases Network. Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease. N Engl J Med. 2018 Nov 29;379(22):2131-2139. doi: 10.1056/NEJMoa1714458. Epub 2018 Oct 10.
- Lee H, Huang AY, Wang LK, Yoon AJ, Renteria G, Eskin A, Signer RH, Dorrani N, Nieves-Rodriguez S, Wan J, Douine ED, Woods JD, Dell'Angelica EC, Fogel BL, Martin MG, Butte MJ, Parker NH, Wang RT, Shieh PB, Wong DA, Gallant N, Singh KE, Tavyev Asher YJ, Sinsheimer JS, Krakow D, Loo SK, Allard P, Papp JC; Undiagnosed Diseases Network; Palmer CGS, Martinez-Agosto JA, Nelson SF. Diagnostic utility of transcriptome sequencing for rare Mendelian diseases. Genet Med. 2020 Mar;22(3):490-499. doi: 10.1038/s41436-019-0672-1. Epub 2019 Oct 14.
- Han ST, Kim AC, Garcia K, Schimmenti LA, Macnamara E, Network UD, Gahl WA, Malicdan MC, Tifft CJ. PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation. Mol Genet Metab. 2022 Mar;135(3):221-229. doi: 10.1016/j.ymgme.2022.01.103. Epub 2022 Feb 1.
- Rodan LH, Qi W, Ducker GS, Demirbas D, Laine R, Yang E, Walker MA, Eichler F, Rabinowitz JD, Anselm I, Berry GT; Undiagnosed Diseases Network (UDN). 5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination. Mol Genet Metab. 2018 Sep;125(1-2):118-126. doi: 10.1016/j.ymgme.2018.06.006. Epub 2018 Jun 15.
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- Shashi V, Schoch K, Spillmann R, Cope H, Tan QK, Walley N, Pena L, McConkie-Rosell A, Jiang YH, Stong N, Need AC, Goldstein DB; Undiagnosed Diseases Network. A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative. Genet Med. 2019 Jan;21(1):161-172. doi: 10.1038/s41436-018-0044-2. Epub 2018 Jun 15.
- Spillmann RC, Tan QK, Reuter C, Schoch K; Undiagnosed Diseases Network; Kohler J, Bonner D, Zastrow D, Alkelai A, Baugh E, Cope H, Marwaha S, Wheeler MT, Bernstein JA, Shashi V; Undiagnosed Diseases Network. A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network. Genet Med. 2023 Apr;25(4):100353. doi: 10.1016/j.gim.2022.12.001. Epub 2022 Dec 5.
- Jangam SV, Briere LC, Jay KL, Andrews JC, Walker MA, Rodan LH, High FA; Undiagnosed Diseases Network; Yamamoto S, Sweetser DA, Wangler MF. A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster. Genetics. 2023 Aug 9;224(4):iyad110. doi: 10.1093/genetics/iyad110.
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- Kozycki CT, Kodati S, Huryn L, Wang H, Warner BM, Jani P, Hammoud D, Abu-Asab MS, Jittayasothorn Y, Mattapallil MJ, Tsai WL, Ullah E, Zhou P, Tian X, Soldatos A, Moutsopoulos N, Kao-Hsieh M, Heller T, Cowen EW, Lee CR, Toro C, Kalsi S, Khavandgar Z, Baer A, Beach M, Long Priel D, Nehrebecky M, Rosenzweig S, Romeo T, Deuitch N, Brenchley L, Pelayo E, Zein W, Sen N, Yang AH, Farley G, Sweetser DA, Briere L, Yang J, de Oliveira Poswar F, Schwartz IVD, Silva Alves T, Dusser P, Kone-Paut I, Touitou I, Titah SM, van Hagen PM, van Wijck RTA, van der Spek PJ, Yano H, Benneche A, Apalset EM, Jansson RW, Caspi RR, Kuhns DB, Gadina M, Takada H, Ida H, Nishikomori R, Verrecchia E, Sangiorgi E, Manna R, Brooks BP, Sobrin L, Hufnagel RB, Beck D, Shao F, Ombrello AK, Aksentijevich I, Kastner DL; Undiagnosed Diseases Network. Gain-of-function mutations in ALPK1 cause an NF-kappaB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome. Ann Rheum Dis. 2022 Oct;81(10):1453-1464. doi: 10.1136/annrheumdis-2022-222629. Epub 2022 Jul 22.
- Sharma R, Sahoo SS, Honda M, Granger SL, Goodings C, Sanchez L, Kunstner A, Busch H, Beier F, Pruett-Miller SM, Valentine MB, Fernandez AG, Chang TC, Geli V, Churikov D, Hirschi S, Pastor VB, Boerries M, Lauten M, Kelaidi C, Cooper MA, Nicholas S, Rosenfeld JA, Polychronopoulou S, Kannengiesser C, Saintome C, Niemeyer CM, Revy P, Wold MS, Spies M, Erlacher M, Coulon S, Wlodarski MW. Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue. Blood. 2022 Feb 17;139(7):1039-1051. doi: 10.1182/blood.2021011980.
- Scala M, Bradley CA, Howe JL, Trost B, Salazar NB, Shum C, Reuter MS, MacDonald JR, Ko SY, Frankland PW, Granger L, Anadiotis G, Pullano V, Brusco A, Keller R, Parisotto S, Pedro HF, Lusk L, McDonnell PP, Helbig I, Mullegama SV; Undiagnosed Diseases Network; Douine ED, Russell BE, Nelson SF, Zara F, Scherer SW. Genetic variants in DDX53 contribute to Autism Spectrum Disorder associated with the Xp22.11 locus. medRxiv [Preprint]. 2023 Dec 27:2023.12.21.23300383. doi: 10.1101/2023.12.21.23300383.
- Borja N, Bivona S, Peart LS, Johnson B, Gonzalez J, Barbouth D, Moore H, Guo S; Undiagnosed Disease Network; Bademci G, Tekin M. Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease. Mol Genet Genomic Med. 2022 Apr;10(4):e1892. doi: 10.1002/mgg3.1892. Epub 2022 Mar 5.
- Halley MC, Young JL, Tang C, Mintz KT, Lucas-Griffin S, Maghiro A, Ashley EA, Tabor HK; Undiagnosed Diseases Network. Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care. J Pediatr. 2023 Oct;261:113537. doi: 10.1016/j.jpeds.2023.113537. Epub 2023 Jun 2.
- Jordan VK, Fregeau B, Ge X, Giordano J, Wapner RJ, Balci TB, Carter MT, Bernat JA, Moccia AN, Srivastava A, Martin DM, Bielas SL, Pappas J, Svoboda MD, Rio M, Boddaert N, Cantagrel V, Lewis AM, Scaglia F; Undiagnosed Diseases Network; Kohler JN, Bernstein JA, Dries AM, Rosenfeld JA, DeFilippo C, Thorson W, Yang Y, Sherr EH, Bi W, Scott DA. Genotype-phenotype correlations in individuals with pathogenic RERE variants. Hum Mutat. 2018 May;39(5):666-675. doi: 10.1002/humu.23400. Epub 2018 Jan 25.
- Borja N, Borjas-Mendoza P, Bivona S, Peart L, Gonzalez J, Johnson BK, Guo S, Yusupov R; Undiagnosed Diseases Network; Bademci G, Tekin M. H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome. Am J Med Genet A. 2023 Jul;191(7):1911-1916. doi: 10.1002/ajmg.a.63193. Epub 2023 Mar 29.
- Bosticardo M, Yamazaki Y, Cowan J, Giardino G, Corsino C, Scalia G, Prencipe R, Ruffner M, Hill DA, Sakovich I, Yemialyanava I, Tam JS, Padem N, Elder ME, Sleasman JW, Perez E, Niebur H, Seroogy CM, Sharapova S, Gebbia J, Kleiner GI, Peake J, Abbott JK, Gelfand EW, Crestani E, Biggs C, Butte MJ, Hartog N, Hayward A, Chen K, Heimall J, Seeborg F, Bartnikas LM, Cooper MA, Pignata C, Bhandoola A, Notarangelo LD. Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis. Am J Hum Genet. 2019 Sep 5;105(3):549-561. doi: 10.1016/j.ajhg.2019.07.014. Epub 2019 Aug 22.
- Ravenscroft TA, Phillips JB, Fieg E, Bajikar SS, Peirce J, Wegner J, Luna AA, Fox EJ, Yan YL, Rosenfeld JA, Zirin J, Kanca O; Undiagnosed Diseases Network; Benke PJ, Cameron ES, Strehlow V, Platzer K, Jamra RA, Klockner C, Osmond M, Licata T, Rojas S, Dyment D, Chong JSC, Lincoln S, Stoler JM, Postlethwait JH, Wangler MF, Yamamoto S, Krier J, Westerfield M, Bellen HJ. Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11. Genet Med. 2021 Oct;23(10):1889-1900. doi: 10.1038/s41436-021-01216-8. Epub 2021 Jun 10.
- Ganapathi M, Matsuoka LS, March M, Li D, Brokamp E, Benito-Sanz S, White SM, Lachlan K, Ahimaz P, Sewda A, Bastarache L, Thomas-Wilson A, Stoler JM, Bramswig NC, Baptista J, Stals K, Demurger F, Cogne B, Isidor B, Bedeschi MF, Peron A, Amiel J, Zackai E, Schacht JP, Iglesias AD, Morton J, Schmetz A; Undiagnosed Diseases Network; Seidel V, Lucia S, Baskin SM, Thiffault I, Cogan JD, Gordon CT, Chung WK, Bowdin S, Bhoj E. Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays. Eur J Hum Genet. 2023 Oct;31(10):1117-1124. doi: 10.1038/s41431-023-01434-5. Epub 2023 Jul 27.
- Poli MC, Ebstein F, Nicholas SK, de Guzman MM, Forbes LR, Chinn IK, Mace EM, Vogel TP, Carisey AF, Benavides F, Coban-Akdemir ZH, Gibbs RA, Jhangiani SN, Muzny DM, Carvalho CMB, Schady DA, Jain M, Rosenfeld JA, Emrick L, Lewis RA, Lee B; Undiagnosed Diseases Network members; Zieba BA, Kury S, Kruger E, Lupski JR, Bostwick BL, Orange JS. Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome. Am J Hum Genet. 2018 Jun 7;102(6):1126-1142. doi: 10.1016/j.ajhg.2018.04.010. Epub 2018 May 24.
- Shashi V, Geist J, Lee Y, Yoo Y, Shin U, Schoch K, Sullivan J, Stong N, Smith E, Jasien J, Kranz P; Undiagnosed Diseases Network; Lee Y, Shin YB, Wright NT, Choi M, Kontrogianni-Konstantopoulos A. Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis. Hum Mutat. 2019 Aug;40(8):1115-1126. doi: 10.1002/humu.23760. Epub 2019 May 5.
- Mueller AA, Sasaki T, Keegan JW, Nguyen JP, Griffith A, Horisberger AM, Licata T, Fieg E, Cao Y, Elahee M, Marks KE, Simmons DP, Briere LC, Cobban LA, Pallais JC, High FA, Walker MA, Linnoila JJ, Sparks JA, Holers VM, Costenbader KH; Undiagnosed Diseases Network; Sweetser DA, Krier JB, Loscalzo J, Lederer JA, Rao DA. High-dimensional immunophenotyping reveals immune cell aberrations in patients with undiagnosed inflammatory and autoimmune diseases. J Clin Invest. 2023 Dec 15;133(24):e169619. doi: 10.1172/JCI169619. No abstract available.
- Bryant L, Li D, Cox SG, Marchione D, Joiner EF, Wilson K, Janssen K, Lee P, March ME, Nair D, Sherr E, Fregeau B, Wierenga KJ, Wadley A, Mancini GMS, Powell-Hamilton N, van de Kamp J, Grebe T, Dean J, Ross A, Crawford HP, Powis Z, Cho MT, Willing MC, Manwaring L, Schot R, Nava C, Afenjar A, Lessel D, Wagner M, Klopstock T, Winkelmann J, Catarino CB, Retterer K, Schuette JL, Innis JW, Pizzino A, Luttgen S, Denecke J, Strom TM, Monaghan KG; DDD Study; Yuan ZF, Dubbs H, Bend R, Lee JA, Lyons MJ, Hoefele J, Gunthner R, Reutter H, Keren B, Radtke K, Sherbini O, Mrokse C, Helbig KL, Odent S, Cogne B, Mercier S, Bezieau S, Besnard T, Kury S, Redon R, Reinson K, Wojcik MH, Ounap K, Ilves P, Innes AM, Kernohan KD; Care4Rare Canada Consortium; Costain G, Meyn MS, Chitayat D, Zackai E, Lehman A, Kitson H; CAUSES Study; Martin MG, Martinez-Agosto JA; Undiagnosed Diseases Network; Nelson SF, Palmer CGS, Papp JC, Parker NH, Sinsheimer JS, Vilain E, Wan J, Yoon AJ, Zheng A, Brimble E, Ferrero GB, Radio FC, Carli D, Barresi S, Brusco A, Tartaglia M, Thomas JM, Umana L, Weiss MM, Gotway G, Stuurman KE, Thompson ML, McWalter K, Stumpel CTRM, Stevens SJC, Stegmann APA, Tveten K, Vollo A, Prescott T, Fagerberg C, Laulund LW, Larsen MJ, Byler M, Lebel RR, Hurst AC, Dean J, Schrier Vergano SA, Norman J, Mercimek-Andrews S, Neira J, Van Allen MI, Longo N, Sellars E, Louie RJ, Cathey SS, Brokamp E, Heron D, Snyder M, Vanderver A, Simon C, de la Cruz X, Padilla N, Crump JG, Chung W, Garcia B, Hakonarson HH, Bhoj EJ. Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients. Sci Adv. 2020 Dec 2;6(49):eabc9207. doi: 10.1126/sciadv.abc9207. Print 2020 Dec.
- Niggl E, Bouman A, Briere LC, Hoogenboezem RM, Wallaard I, Park J, Admard J, Wilke M, Harris-Mostert EDRO, Elgersma M, Bain J, Balasubramanian M, Banka S, Benke PJ, Bertrand M, Blesson AE, Clayton-Smith J, Ellingford JM, Gillentine MA, Goodloe DH, Haack TB, Jain M, Krantz I, Luu SM, McPheron M, Muss CL, Raible SE, Robin NH, Spiller M, Starling S, Sweetser DA, Thiffault I, Vetrini F, Witt D, Woods E, Zhou D; Genomics England Research Consortium; Undiagnosed Diseases Network; Elgersma Y, van Esbroeck ACM. HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder. Am J Hum Genet. 2023 Aug 3;110(8):1414-1435. doi: 10.1016/j.ajhg.2023.07.005.
- Davids M, Menezes M, Guo Y, McLean SD, Hakonarson H, Collins F, Worgan L, Billington CJ Jr, Maric I, Littlejohn RO, Onyekweli T, Members Of The Udn, Adams DR, Tifft CJ, Gahl WA, Wolfe LA, Christodoulou J, Malicdan MCV. Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency. Mol Genet Metab. 2020 May;130(1):49-57. doi: 10.1016/j.ymgme.2020.02.005. Epub 2020 Feb 10.
- Bonder MJ, Smail C, Gloudemans MJ, Fresard L, Jakubosky D, D'Antonio M, Li X, Ferraro NM, Carcamo-Orive I, Mirauta B, Seaton DD, Cai N, Vakili D, Horta D, Zhao C, Zastrow DB, Bonner DE; HipSci Consortium; iPSCORE consortium; Undiagnosed Diseases Network; PhLiPS consortium; Wheeler MT, Kilpinen H, Knowles JW, Smith EN, Frazer KA, Montgomery SB, Stegle O. Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics. Nat Genet. 2021 Mar;53(3):313-321. doi: 10.1038/s41588-021-00800-7. Epub 2021 Mar 4.
- Fresard L, Smail C, Ferraro NM, Teran NA, Li X, Smith KS, Bonner D, Kernohan KD, Marwaha S, Zappala Z, Balliu B, Davis JR, Liu B, Prybol CJ, Kohler JN, Zastrow DB, Reuter CM, Fisk DG, Grove ME, Davidson JM, Hartley T, Joshi R, Strober BJ, Utiramerur S; Undiagnosed Diseases Network; Care4Rare Canada Consortium; Lind L, Ingelsson E, Battle A, Bejerano G, Bernstein JA, Ashley EA, Boycott KM, Merker JD, Wheeler MT, Montgomery SB. Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts. Nat Med. 2019 Jun;25(6):911-919. doi: 10.1038/s41591-019-0457-8. Epub 2019 Jun 3.
- Mukherjee S, Cogan JD, Newman JH, Phillips JA 3rd, Hamid R; Undiagnosed Diseases Network; Meiler J, Capra JA. Identifying digenic disease genes via machine learning in the Undiagnosed Diseases Network. Am J Hum Genet. 2021 Oct 7;108(10):1946-1963. doi: 10.1016/j.ajhg.2021.08.010. Epub 2021 Sep 15.
- Newman JH, Shaver A, Sheehan JH, Mallal S, Stone JH, Pillai S, Bastarache L, Riebau D, Allard-Chamard H, Stone WM, Perugino C, Pilkinton M, Smith SA, McDonnell WJ, Capra JA, Meiler J, Cogan J, Xing K, Mahajan VS, Mattoo H, Hamid R, Phillips JA 3rd; Undiagnosed Disease Network. IgG4-related disease: Association with a rare gene variant expressed in cytotoxic T cells. Mol Genet Genomic Med. 2019 Jun;7(6):e686. doi: 10.1002/mgg3.686. Epub 2019 Apr 16.
- Ungar RA, Goddard PC, Jensen TD, Degalez F, Smith KS, Jin CA; Undiagnosed Diseases Network; Bonner DE, Bernstein JA, Wheeler MT, Montgomery SB. Impact of genome build on RNA-seq interpretation and diagnostics. medRxiv [Preprint]. 2024 Jan 12:2024.01.11.24301165. doi: 10.1101/2024.01.11.24301165.
- Splinter K, Hull SC, Holm IA, McDonough TL, Wise AL, Ramoni RB; Members of the Undiagnosed Diseases Network. Implementing the Single Institutional Review Board Model: Lessons from the Undiagnosed Diseases Network. Clin Transl Sci. 2018 Jan;11(1):28-31. doi: 10.1111/cts.12512. Epub 2017 Oct 23. No abstract available.
- Harnish JM, Deal SL, Chao HT, Wangler MF, Yamamoto S. In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila. J Vis Exp. 2019 Aug 20;(150):10.3791/59658. doi: 10.3791/59658.
- Kilich G, Hassey K, Behrens EM, Falk M, Vanderver A, Rader DJ, Cahill PJ, Raper A, Zhang Z, Westerfer D, Jadhav T, Conlin L, Izumi K, Rajagopalan R, Sullivan KE; UDN Consortium. Kagami Ogata syndrome: a small deletion refines critical region for imprinting. NPJ Genom Med. 2024 Jan 11;9(1):5. doi: 10.1038/s41525-023-00389-2.
- Macnamara EF, Koehler AE, D'Souza P, Estwick T, Lee P, Vezina G; Undiagnosed Diseases Network; Fauni H, Braddock SR, Torti E, Holt JM, Sharma P, Malicdan MCV, Tifft CJ. Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of SLC12A2. Hum Mutat. 2019 May;40(5):532-538. doi: 10.1002/humu.23722. Epub 2019 Mar 12.
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- Burdick KJ, Cogan JD, Rives LC, Robertson AK, Koziura ME, Brokamp E, Duncan L, Hannig V, Pfotenhauer J, Vanzo R, Paul MS, Bican A, Morgan T, Duis J, Newman JH, Hamid R, Phillips JA 3rd; Undiagnosed Diseases Network. Limitations of exome sequencing in detecting rare and undiagnosed diseases. Am J Med Genet A. 2020 Jun;182(6):1400-1406. doi: 10.1002/ajmg.a.61558. Epub 2020 Mar 19.
- Beck DB, Basar MA, Asmar AJ, Thompson JJ, Oda H, Uehara DT, Saida K, Pajusalu S, Talvik I, D'Souza P, Bodurtha J, Mu W, Baranano KW, Miyake N, Wang R, Kempers M, Tamada T, Nishimura Y, Okada S, Kosho T, Dale R, Mitra A, Macnamara E; Undiagnosed Diseases Network; Matsumoto N, Inazawa J, Walkiewicz M, Ounap K, Tifft CJ, Aksentijevich I, Kastner DL, Rocha PP, Werner A. Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation. Sci Adv. 2021 Jan 20;7(4):eabe2116. doi: 10.1126/sciadv.abe2116. Print 2021 Jan.
- Pena LDM, Jiang YH, Schoch K, Spillmann RC, Walley N, Stong N, Rapisardo Horn S, Sullivan JA, McConkie-Rosell A, Kansagra S, Smith EC, El-Dairi M, Bellet J, Keels MA, Jasien J, Kranz PG, Noel R, Nagaraj SK, Lark RK, Wechsler DSG, Del Gaudio D, Leung ML, Hendon LG, Parker CC, Jones KL; Undiagnosed Diseases Network Members; Goldstein DB, Shashi V. Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases. Genet Med. 2018 Apr;20(4):464-469. doi: 10.1038/gim.2017.128. Epub 2017 Sep 14.
- Marcogliese PC, Dutta D, Ray SS, Dang NDP, Zuo Z, Wang Y, Lu D, Fazal F, Ravenscroft TA, Chung H, Kanca O, Wan J, Douine ED, Network UD, Pena LDM, Yamamoto S, Nelson SF, Might M, Meyer KC, Yeo NC, Bellen HJ. Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling. Sci Adv. 2022 Jan 21;8(3):eabl5613. doi: 10.1126/sciadv.abl5613. Epub 2022 Jan 19.
- Accogli A, Lu S, Musante I, Scudieri P, Rosenfeld JA, Severino M, Baldassari S, Iacomino M, Riva A, Balagura G, Piccolo G, Minetti C, Roberto D, Xia F, Razak R, Lawrence E, Hussein M, Chang EY, Holick M, Cali E, Aliberto E, De-Sarro R, Gambardella A, Network UD, Group SS, Emrick L, McCaffery PJA, Clagett-Dame M, Marcogliese PC, Bellen HJ, Lalani SR, Zara F, Striano P, Salpietro V. Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development. Cerebellum. 2023 Apr;22(2):206-222. doi: 10.1007/s12311-022-01379-3. Epub 2022 Feb 26.
- Shashi V, Magiera MM, Klein D, Zaki M, Schoch K, Rudnik-Schoneborn S, Norman A, Lopes Abath Neto O, Dusl M, Yuan X, Bartesaghi L, De Marco P, Alfares AA, Marom R, Arold ST, Guzman-Vega FJ, Pena LD, Smith EC, Steinlin M, Babiker MO, Mohassel P, Foley AR, Donkervoort S, Kaur R, Ghosh PS, Stanley V, Musaev D, Nava C, Mignot C, Keren B, Scala M, Tassano E, Picco P, Doneda P, Fiorillo C, Issa MY, Alassiri A, Alahmad A, Gerard A, Liu P, Yang Y, Ertl-Wagner B, Kranz PG, Wentzensen IM, Stucka R, Stong N, Allen AS, Goldstein DB; Undiagnosed Diseases Network; Schoser B, Rosler KM, Alfadhel M, Capra V, Chrast R, Strom TM, Kamsteeg EJ, Bonnemann CG, Gleeson JG, Martini R, Janke C, Senderek J. Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration. EMBO J. 2018 Dec 3;37(23):e100540. doi: 10.15252/embj.2018100540. Epub 2018 Nov 12.
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- Koop K, Yuan W, Tessadori F, Rodriguez-Polanco WR, Grubbs J, Zhang B, Osmond M, Graham G, Sawyer S, Conboy E, Vetrini F, Treat K, Ploski R, Pienkowski VM, Klosowska A, Fieg E, Krier J, Mallebranche C, Alban Z, Aldinger KA, Ritter D, Macnamara E, Sullivan B, Herriges J, Alaimo JT, Helbig C, Ellis CA, van Eyk C, Gecz J, Farrugia D, Osei-Owusu I, Ades L, van den Boogaard MJ, Fuchs S, Bakker J, Duran K, Dawson ZD, Lindsey A, Huang H, Baldridge D, Silverman GA, Grant BD, Raizen D; Undiagnosed Diseases Network; van Haaften G, Pak SC, Rehmann H, Schedl T, van Hasselt P. Macrocephaly and developmental delay caused by missense variants in RAB5C. Hum Mol Genet. 2023 Oct 17;32(21):3063-3077. doi: 10.1093/hmg/ddad130.
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Tähän tutkimukseen liittyvät termit
Muita asiaankuuluvia MeSH-ehtoja
Muut tutkimustunnusnumerot
- 150130
- 15-HG-0130
Lääke- ja laitetiedot, tutkimusasiakirjat
Tutkii yhdysvaltalaista FDA sääntelemää lääkevalmistetta
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Tutkii yhdysvaltalaista FDA sääntelemää laitetuotetta
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