Kliniczna i genetyczna ocena osób z niezdiagnozowanymi zaburzeniami za pośrednictwem sieci niezdiagnozowanych chorób
10 czerwca 2026 zaktualizowane przez: National Human Genome Research Institute (NHGRI)
Kliniczna i genetyczna ocena pacjentów z niezdiagnozowanymi zaburzeniami za pośrednictwem sieci niezdiagnozowanych chorób
Tło:
- Bez wyjaśnienia ciężkich, a czasem zagrażających życiu objawów, pacjenci i ich rodziny są pozostawieni w stanie niepewności. NIH pomógł stworzyć sieć medycznych ośrodków badawczych, zwaną Undiagnosed Diseases Network (UDN), w celu zapewnienia opieki i odpowiedzi na te osoby.
Cele:
- Aby poprawić diagnostykę i opiekę nad osobami z niezdiagnozowanymi chorobami.
Kwalifikowalność:
- Osoby z niezdiagnozowanymi chorobami i ich bliscy.
Projekt:
Uczestnicy udadzą się do jednego z ośrodków medycznych UDN na 5-dniową wizytę kliniczno-badawczą.
W ramach wizyty świadczeniodawcy UDN mogą poprosić uczestników o:
Wskazane klinicznie testy i procedury, w tym:
- Fizyczny egzamin
- Badania krwi i moczu
- Przegląd zdrowia i historii rodziny
- Zdjęcia rentgenowskie i skany ciała
- Ankiety
- Zdjęcia twarzy i ciała
- Specjalna dieta, aby sprawdzić, czy organizm poradzi sobie z jedzeniem bez reakcji, takiej jak wymioty
- Nagrania wideo lub głosowe
- Inne testy i procedury pomagające w postawieniu diagnozy
Przeprowadzone badania i procedury badawcze, w tym:
- Biopsja skóry. W tym celu zostanie pobrany mały kawałek skóry.
- Ankiety
- Inne testy i procedury badawcze, które mogą nie być związane z diagnozą lub leczeniem.
- Większość uczestników zostanie poproszona o oddanie próbek do badań genetycznych.
- Po wizycie można skontaktować się z uczestnikami w celu omówienia wyników testu. W przyszłości można się z nimi również kontaktować w celu przeprowadzenia wywiadów i ankiet.
- Krewni uczestników mogą zostać poproszeni o oddanie próbek do badań genetycznych. Mogą zostać poproszeni o zarejestrowanie części wizyty i poddanie się dodatkowym badaniom. W przyszłości można się z nimi również kontaktować w celu przeprowadzenia wywiadów i ankiet.
- Zebrane informacje kliniczne i badawcze będą przechowywane w bazie danych.
- Zebrane informacje i próbki zostaną udostępnione innym osobom w celach badawczych.
Przegląd badań
Status
Rekrutacyjny
Warunki
Szczegółowy opis
Bez wyjaśnienia ciężkich, a czasem zagrażających życiu objawów, pacjenci i ich rodziny pozostają w stanie niepewności.
Wiele osób jest przekazywanych od lekarza do lekarza, poddawanych niezliczonym i często powtarzanym testom w nadziei znalezienia odpowiedzi i wglądu w to, co może przynieść przyszłość.
Ta długa i żmudna podróż w celu znalezienia diagnozy nie kończy się dla wielu pacjentów – Biuro Badań nad Chorobami Rzadkimi (ORDR) zauważa, że 6% osób szukających pomocy ma niezdiagnozowane zaburzenie.
W 2008 r. utworzono Program Niezdiagnozowanych Chorób (UDP) Narodowego Instytutu Zdrowia (NIH), którego celem jest zapewnienie opieki i odpowiedzi osobom z tajemniczymi schorzeniami, które od dawna wymykają się diagnozie.
NIH UDP jest wspólnym przedsięwzięciem NIH ORDR, Programu Badań Intramural Narodowego Instytutu Badań nad Genomem Człowieka (NHGRI-IRP) oraz Centrum Badań Klinicznych NIH (CRC).
Cele NIH UDP to: (1) udzielanie odpowiedzi pacjentom z niezdiagnozowanymi chorobami; (2) wygenerować nową wiedzę na temat mechanizmów chorobowych; (3) ocenić zastosowanie nowych podejść do fenotypowania i wykorzystania technologii genomicznych; oraz (4) w miarę możliwości zidentyfikować potencjalne cele terapeutyczne.
Przed utworzeniem Sieci Niezdiagnozowanych Chorób (UDN), UDP oceniło 3300 dokumentacji medycznej, przyjęło 750 osób z rzadkimi i niezdiagnozowanymi schorzeniami do Centrum Klinicznego NIH oraz zidentyfikowało ponad 70 rzadkich chorób i kilka nowych schorzeń.
Sukces UDP NIH skłonił wspólny fundusz NIH do wsparcia utworzenia sieci medycznych ośrodków badawczych UDN na lata podatkowe 2013-2022.
Ośrodki kliniczne przeprowadzają szeroko zakrojone fenotypowanie, analizy genetyczne i badania funkcjonalne potencjalnych wariantów chorobotwórczych.
Testy przeprowadzane na pacjentach obejmują badania ze wskazań medycznych, które mają pomóc w postawieniu diagnozy, a także badania naukowe, które obejmują biopsję skóry, pobieranie krwi i analizę DNA.
Ponadto UDN wspiera cele UDP, zezwalając na udostępnianie w sieci informacji umożliwiających identyfikację fenotypu i genotypu.
Dzieląc się informacjami z uczestnikami i zachęcając do współpracy, UDN ma nadzieję na lepsze zrozumienie rzadkich schorzeń oraz postęp w procesie diagnostycznym i opiekę nad osobami z niezdiagnozowanymi chorobami.
Typ studiów
Obserwacyjny
Zapisy (Szacowany)
20000
Kontakty i lokalizacje
Ta sekcja zawiera dane kontaktowe osób prowadzących badanie oraz informacje o tym, gdzie badanie jest przeprowadzane.
Kontakt w sprawie studiów
- Nazwa: Paul Mazur
- Numer telefonu: (844) 746-4836
- E-mail: udn@hms.harvard.edu
Lokalizacje studiów
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Alabama
-
Birmingham, Alabama, Stany Zjednoczone, 35233
- Rekrutacyjny
- University of Alabama at Birmingham
-
Kontakt:
- Bruce Korf, M.D.
- E-mail: bkorf@uab.edu
-
Huntsville, Alabama, Stany Zjednoczone, 35806
- Zakończony
- HudsonAlpha Institute for Biotechnology, Inc.
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California
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Los Angeles, California, Stany Zjednoczone, 90095
- Rekrutacyjny
- University of California, Los Angeles
-
Kontakt:
- Stanley Nelson, M.D.
- Numer telefonu: 310-794-7981
- E-mail: snelson@ucla.edu
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Orange, California, Stany Zjednoczone, 92668
- Rekrutacyjny
- University of California, Irvine Medical Center
-
Kontakt:
- Changrui Xiao, M.D.
- Numer telefonu: 714-456-7720
- E-mail: changrx@hs.uci.edu
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Stanford, California, Stany Zjednoczone, 94305
- Rekrutacyjny
- Leland Stanford Junior University
-
Kontakt:
- Euan Ashley, MD, PhD
- Numer telefonu: Not Listed
- E-mail: euan@stanford.edu
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Stanford, California, Stany Zjednoczone, 94305
- Rekrutacyjny
- Stanford Hospital and Clinics
-
Kontakt:
- Jonathan Bernstein, MD, PhD
- Numer telefonu: Not Listed
- E-mail: jon.bernstein@stanford.edu
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Stanford, California, Stany Zjednoczone, 94020
- Zakończony
- Lucile Salter Packard Children's Hospital at Stanford
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Stanford, California, Stany Zjednoczone, 94305-5584
- Rekrutacyjny
- Stanford University
-
Kontakt:
- Euan Ashley, M.D.
- Numer telefonu: 650-736-1147
- E-mail: euan@stanford.edu
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District of Columbia
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Washington D.C., District of Columbia, Stany Zjednoczone, 20010
- Rekrutacyjny
- Childrens National Medical Center
-
Kontakt:
- Eric Vilain, M.D.
- Numer telefonu: 202-476-3216
- E-mail: evilain@childrensnational.org
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Florida
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Miami, Florida, Stany Zjednoczone, 33136
- Rekrutacyjny
- University of Miami Miller School of Medicine
-
Kontakt:
- Mustafa Tekin, MD
- Numer telefonu: 305-243-2381
- E-mail: mtekin@med.miami.edu
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Illinois
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Chicago, Illinois, Stany Zjednoczone, 60611
- Jeszcze nie rekrutacja
- Lurie Children s Hospital
-
Kontakt:
- Carlos Prada, M.D.
- Numer telefonu: 513-304-8906
- E-mail: cprada@luriechildrens.org
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Indiana
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Indianapolis, Indiana, Stany Zjednoczone, 46202-5262
- Rekrutacyjny
- Indiana University
-
Kontakt:
- Stephane Ware, M.D.
- Numer telefonu: 317-274-8938
- E-mail: stware@iu.edu
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Maryland
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Bethesda, Maryland, Stany Zjednoczone, 20892
- Rekrutacyjny
- National Institutes of Health Clinical Center
-
Kontakt:
- For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
- Numer telefonu: TTY dial 711 800-411-1222
- E-mail: ccopr@nih.gov
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Massachusetts
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Boston, Massachusetts, Stany Zjednoczone, 02115
- Rekrutacyjny
- Brigham and Women's Hospital
-
Kontakt:
- David Sweetser, M.D., Ph.D.
- Numer telefonu: 617-726-1742
- E-mail: dsweetser@partners.org
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Boston, Massachusetts, Stany Zjednoczone, 02114
- Rekrutacyjny
- Massachusetts General Hospital
-
Kontakt:
- David Sweetser, M.D.
- Numer telefonu: 617-726-1742
- E-mail: dsweetser@partners.org
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Boston, Massachusetts, Stany Zjednoczone, 02115
- Rekrutacyjny
- Boston Children s Hospital
-
Kontakt:
- Ingrid Holm, M.D.
- Numer telefonu: 617-919-2338
- E-mail: ingrid.holm@childrens.harvard.edu
-
Boston, Massachusetts, Stany Zjednoczone, 02115
- Jeszcze nie rekrutacja
- Harvard U Faculty of Medicine
-
Kontakt:
- Isaac Kohane
- Numer telefonu: Not Listed
- E-mail: isaac_kohane@harvard.edu
-
Boston, Massachusetts, Stany Zjednoczone, 02115
- Zakończony
- Harvard T.H. Chan School of Public Health
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Minnesota
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Rochester, Minnesota, Stany Zjednoczone, 55905
- Rekrutacyjny
- Mayo Clinic
-
Kontakt:
- Brendan Lanpher
- E-mail: lanpher.brendan@mayo.edu
-
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Missouri
-
St Louis, Missouri, Stany Zjednoczone, 63110
- Rekrutacyjny
- Washington University in St. Louis
-
Kontakt:
- Patricia Dickson
- Numer telefonu: Not Listed
- E-mail: pdickson@wustl.edu
-
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New York
-
New York, New York, Stany Zjednoczone, 10013
- Aktywny, nie rekrutujący
- New York Genome Center
-
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North Carolina
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Durham, North Carolina, Stany Zjednoczone, 27710
- Rekrutacyjny
- Duke University Health System
-
Kontakt:
- Vandana Shashi, MD
- Numer telefonu: Not Listed
- E-mail: Vandana.shashi@duke.edu
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Oregon
-
Eugene, Oregon, Stany Zjednoczone, 97403
- Jeszcze nie rekrutacja
- University of Oregon
-
Kontakt:
- Monte Westerfield, PhD
- Numer telefonu: Not Listed
- E-mail: monte@uoneuro.uoregon.edu
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Portland, Oregon, Stany Zjednoczone, 97201-3098
- Zakończony
- Oregon Health Sciences University
-
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Pennsylvania
-
Philadelphia, Pennsylvania, Stany Zjednoczone, 19104
- Rekrutacyjny
- Children's Hospital of Philadelphia
-
Kontakt:
- Kathleen Sullivan, M.D.
- Numer telefonu: Not Listed
- E-mail: sullivank@email.chop.edu
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Philadelphia, Pennsylvania, Stany Zjednoczone, 19104-6056
- Rekrutacyjny
- University of Pennsylvania
-
Kontakt:
- Daniel Rader, M.D.
- E-mail: rader@pennmedicine.upenn.edu
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Tennessee
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Nashville, Tennessee, Stany Zjednoczone, 37232
- Rekrutacyjny
- Vanderbilt University Medical Center
-
Kontakt:
- Rizwan Hamid, M.D.
- E-mail: rizwan.hamid@vumc.org
-
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Texas
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Houston, Texas, Stany Zjednoczone, 77030
- Rekrutacyjny
- Baylor College of Medicine
-
Kontakt:
- Brendan Lee, M.D.
- Numer telefonu: 713-798-8835
- E-mail: blee@bcm.edu
-
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Utah
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Salt Lake City, Utah, Stany Zjednoczone, 84112
- Rekrutacyjny
- University of Utah
-
Kontakt:
- Lorenzo Botto, M.D.
- Numer telefonu: 801-581-8943
- E-mail: lorenzo.botto@hsc.utah.edu
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Washington
-
Richland, Washington, Stany Zjednoczone, 99354
- Zakończony
- Pacific Northwest National Laboratory
-
Seattle, Washington, Stany Zjednoczone, 98195
- Rekrutacyjny
- University of Washington
-
Kontakt:
- Gail Jarvik, M.D.
- Numer telefonu: Not Listed
- E-mail: pair@uw.edu
-
Seattle, Washington, Stany Zjednoczone, 98101
- Rekrutacyjny
- Seattle Children's Hospital
-
Kontakt:
- Katrina Dipple, MD, PhD
- Numer telefonu: Not Listed
- E-mail: katrina.dipple@seattlechildrens.org
-
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Wisconsin
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Milwaukee, Wisconsin, Stany Zjednoczone, 53226
- Rekrutacyjny
- Medical College of Wisconsin
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Kryteria uczestnictwa
Badacze szukają osób, które pasują do określonego opisu, zwanego kryteriami kwalifikacyjnymi. Niektóre przykłady tych kryteriów to ogólny stan zdrowia danej osoby lub wcześniejsze leczenie.
Kryteria kwalifikacji
Wiek uprawniający do nauki
1 miesiąc do 100 lat (Dziecko, Dorosły, Starszy dorosły)
Akceptuje zdrowych ochotników
Tak
Metoda próbkowania
Próbka bez prawdopodobieństwa
Badana populacja
Osoby z niezdiagnozowanymi schorzeniami
Opis
- KRYTERIA PRZYJĘCIA:
Idealnymi kandydatami do UDN są osoby z:
- Jedno lub więcej obiektywnych ustaleń odnoszących się do fenotypu, dla którego złożono wniosek UDN.
- Brak rozpoznania pomimo oceny dokonanej przez co najmniej dwóch specjalistów, którzy ocenili pacjenta pod kątem obiektywnych ustaleń.
- Umowa na przechowywanie i udostępnianie informacji i biomateriałów w sposób zidentyfikowany pomiędzy ośrodkami UDN oraz w sposób zdeidentyfikowany do ośrodków badawczych poza siecią.
- Kandydaci, którzy nie mogą wyrazić zgody, mogą zostać zapisani.
KRYTERIA WYŁĄCZENIA:
- Wnioskodawcy, którzy prawdopodobnie nie zostaną zaakceptowani, to osoby z:
- Zgłoszone objawy bez istotnych obiektywnych ustaleń.
- Diagnoza wyjaśniająca obiektywne ustalenia.
- Diagnoza zasugerowana podczas przeglądu dokumentacji.
- Niechęć do udostępniania danych.
Plan studiów
Ta sekcja zawiera szczegółowe informacje na temat planu badania, w tym sposób zaprojektowania badania i jego pomiary.
Jak projektuje się badanie?
Szczegóły projektu
- Modele obserwacyjne: Tylko przypadek
- Perspektywy czasowe: Spodziewany
Kohorty i interwencje
Grupa / Kohorta |
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Nierozpoznane zaburzenia
Pacjenci z rzadkimi, niezdiagnozowanymi zaburzeniami.
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Co mierzy badanie?
Podstawowe miary wyniku
Miara wyniku |
Opis środka |
Ramy czasowe |
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Stwórz zintegrowaną i współpracującą społeczność badawczą w wielu ośrodkach klinicznych oraz między laboratoriami i badaczami klinicznymi przygotowanymi do badania patofizjologii tych nowych i rzadkich chorób, wpływu diagnostyki...
Ramy czasowe: Dzień 1-5 i kontynuacja
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Stworzyć zintegrowaną i opartą na współpracy społeczność badawczą w wielu ośrodkach klinicznych oraz pomiędzy badaczami laboratoryjnymi i klinicznymi, przygotowanymi do badania patofizjologii tych nowych i rzadkich chorób, wpływu procesu diagnostycznego na pacjentów i rodziny oraz dzielić się tym zrozumieniem w celu określenia ulepszonych opcji optymalnego zarządzanie pacjentem.
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Dzień 1-5 i kontynuacja
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Ułatwianie badań nad etiologią niezdiagnozowanych chorób poprzez gromadzenie i udostępnianie znormalizowanych, wysokiej jakości danych klinicznych i laboratoryjnych, w tym genotypowanie, fenotypowanie i dokumentację narażenia środowiskowego
Ramy czasowe: Dzień 1-5 i kontynuacja
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Ułatwiaj badania nad etiologią niezdiagnozowanych chorób, gromadząc i udostępniając wystandaryzowane, wysokiej jakości dane kliniczne i laboratoryjne, w tym genotypowanie, fenotypowanie i dokumentację narażenia środowiskowego.
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Dzień 1-5 i kontynuacja
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Poprawić poziom diagnozy i opieki nad pacjentami z niezdiagnozowanymi chorobami poprzez opracowanie wspólnych i specyficznych dla miejsca protokołów zaprojektowanych przez powiększoną społeczność badaczy
Ramy czasowe: Dzień 1-5 i kontynuacja
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Popraw poziom diagnostyki i opieki nad pacjentami z niezdiagnozowanymi chorobami poprzez opracowanie wspólnych i specyficznych dla danego miejsca protokołów opracowanych przez większą społeczność badaczy.
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Dzień 1-5 i kontynuacja
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Współpracownicy i badacze
Tutaj znajdziesz osoby i organizacje zaangażowane w to badanie.
Śledczy
- Główny śledczy: William A Gahl, M.D., National Human Genome Research Institute (NHGRI)
Publikacje i pomocne linki
Osoba odpowiedzialna za wprowadzenie informacji o badaniu dobrowolnie udostępnia te publikacje. Mogą one dotyczyć wszystkiego, co jest związane z badaniem.
Publikacje ogólne
- 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.
- DeBalsi KL, Newman JH, Sommerville LJ, Phillips JA 3rd, Hamid R, Cogan J, Fessel JP, Evans AM, Undiagnosed Diseases Network; Undiagnosed Diseases Network; Kennedy AD. A Case Study of Dysfunctional Nicotinamide Metabolism in a 20-Year-Old Male. Metabolites. 2023 Mar 8;13(3):399. doi: 10.3390/metabo13030399.
- 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.
- Briere LC, Walker MA, High FA, Cooper C, Rogers CA, Callahan CJ, Ishimura R, Ichimura Y, Caruso PA, Sharma N, Brokamp E, Koziura ME, Mohammad SS, Dale RC, Riley LG; Undiagnosed Diseases Network; Phillips JA, Komatsu M, Sweetser DA. A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy. Cold Spring Harb Mol Case Stud. 2021 Jun 11;7(3):a005827. doi: 10.1101/mcs.a005827. Print 2021 Jun.
- Huang H, Pan J, Spielberg DR, Hanchard NA, Scott DA, Burrage LC, Dai H, Murdock D, Rosenfeld JA, Mohammad A, Huang T, Lindsey AG, Kim H, Chen J, Ramu A, Morrison SA, Dawson ZD, Hu AZ, Tycksen E, Silverman GA, Baldridge D, Wambach JA; Undiagnosed Diseases Network; Pak SC, Brody SL, Schedl T. A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C. Proc Natl Acad Sci U S A. 2022 Feb 8;119(6):e2105228119. doi: 10.1073/pnas.2105228119.
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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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- Yan YL, Titus T, Desvignes T, BreMiller R, Batzel P, Sydes J, Farnsworth D, Dillon D, Wegner J, Phillips JB, Peirce J, Dowd J; Undiagnosed Diseases Network; Buck CL, Miller A, Westerfield M, Postlethwait JH. A fish with no sex: gonadal and adrenal functions partition between zebrafish NR5A1 co-orthologs. Genetics. 2021 Feb 9;217(2):iyaa030. doi: 10.1093/genetics/iyaa030.
- Shankar SP, Grimsrud K, Lanoue L, Egense A, Willis B, Horberg J, AlAbdi L, Mayer K, Utkur K, Monaghan KG, Krier J, Stoler J, Alnemer M, Shankar PR, Schaffrath R, Alkuraya FS, Brinkmann U, Eriksson LA, Lloyd K, Rauen KA; Undiagnosed Diseases Network. A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder. Genet Med. 2022 Jul;24(7):1567-1582. doi: 10.1016/j.gim.2022.03.014. Epub 2022 Apr 28.
- Bashamboo A, Donohoue PA, Vilain E, Rojo S, Calvel P, Seneviratne SN, Buonocore F, Barseghyan H, Bingham N, Rosenfeld JA, Mulukutla SN, Jain M, Burrage L, Dhar S, Balasubramanyam A, Lee B; Members of UDN; Dumargne MC, Eozenou C, Suntharalingham JP, de Silva K, Lin L, Bignon-Topalovic J, Poulat F, Lagos CF, McElreavey K, Achermann JC. A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development. Hum Mol Genet. 2016 Aug 15;25(16):3446-3453. doi: 10.1093/hmg/ddw186. Epub 2016 Jul 4.
- Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Le Pichon JB, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Denomme-Pichon AS, Koh HY, Poduri A, Bolton J, Knopp C, Julia Suh DS, Maier A, Toosi MB, Karimiani EG, Maroofian R, Schaefer GB, Ramakumaran V, Vasudevan P, Prasad C, Osmond M, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H; Undiagnosed Diseases Network; Bacino CA, Lee BH, Chao HT. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. Am J Hum Genet. 2024 Jan 4;111(1):96-118. doi: 10.1016/j.ajhg.2023.12.004.
- Zastrow DB, Kohler JN, Bonner D, Reuter CM, Fernandez L, Grove ME, Fisk DG; Undiagnosed Diseases Network; Yang Y, Eng CM, Ward PA, Bick D, Worthey EA, Fisher PG, Ashley EA, Bernstein JA, Wheeler MT. A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing. J Genet Couns. 2019 Apr;28(2):213-228. doi: 10.1002/jgc4.1119.
- Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, Simons C, Crawford J, Lau CC; Undiagnosed Diseases Network; Chung WK, Markello TC, Dobyns WB, Adams DR, Gahl WA, Wangler MF, Yamamoto S, Bellen HJ, Malicdan MCV. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. Am J Hum Genet. 2019 Aug 1;105(2):413-424. doi: 10.1016/j.ajhg.2019.06.014. Epub 2019 Jul 18.
- Shieh C, Jones N, Vanle B, Au M, Huang AY, Silva APG, Lee H, Douine ED, Otero MG, Choi A, Grand K, Taff IP, Delgado MR, Hajianpour MJ, Seeley A, Rohena L, Vernon H, Gripp KW, Vergano SA, Mahida S, Naidu S, Sousa AB, Wain KE, Challman TD, Beek G, Basel D, Ranells J, Smith R, Yusupov R, Freckmann ML, Ohden L, Davis-Keppen L, Chitayat D, Dowling JJ, Finkel R, Dauber A, Spillmann R, Pena LDM; Undiagnosed Diseases Network; Metcalfe K, Splitt M, Lachlan K, McKee SA, Hurst J, Fitzpatrick DR, Morton JEV, Cox H, Venkateswaran S, Young JI, Marsh ED, Nelson SF, Martinez JA, Graham JM Jr, Kini U, Mackay JP, Pierson TM. GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder. Genet Med. 2020 May;22(5):878-888. doi: 10.1038/s41436-019-0747-z. Epub 2020 Jan 17.
- Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bilan F, Bjorgo K, Blanc X, Van Bogaert P, Bolkier Y, Burrage LC, Christ BU, Granadillo JL, Dickson P, Donald KA, Dubourg C, Eliyahu A, Emrick L, Engleman K, Gonfiantini MV, Good JM, Kalser J, Kloeckner C, Lachmeijer G, Macchiaiolo M, Nicita F, Odent S, O'Heir E, Ortiz-Gonzalez X, Pacio-Miguez M, Palomares-Bralo M, Pena L, Platzer K, Quinodoz M, Ranza E, Rosenfeld JA, Roulet-Perez E, Santani A, Santos-Simarro F, Pode-Shakked B, Skraban C, Slaugh R, Superti-Furga A, Thiffault I, van Jaabrsveld RH, Vincent M, Wang HG, Zacher P; Undiagnosed Diseases Network; Rush E, Pitt GS, Au PYB, Shashi V. Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations. Genet Med. 2021 Oct;23(10):1922-1932. doi: 10.1038/s41436-021-01232-8. Epub 2021 Jun 23.
- Blanco-Sanchez B, Clement A, Stednitz SJ, Kyle J, Peirce JL, McFadden M, Wegner J, Phillips JB, Macnamara E, Huang Y, Adams DR, Toro C, Gahl WA, Malicdan MCV, Tifft CJ, Zink EM, Bloodsworth KJ, Stratton KG; Undiagnosed Diseases Network; Koeller DM, Metz TO, Washbourne P, Westerfield M. yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development. PLoS Genet. 2020 Jun 16;16(6):e1008841. doi: 10.1371/journal.pgen.1008841. eCollection 2020 Jun.
- Ferdinandusse S, McWalter K, Te Brinke H, IJlst L, Mooijer PM, Ruiter JPN, van Lint AEM, Pras-Raves M, Wever E, Millan F, Guillen Sacoto MJ, Begtrup A, Tarnopolsky M, Brady L, Ladda RL, Sell SL, Nowak CB, Douglas J, Tian C, Ulm E, Perlman S, Drack AV, Chong K, Martin N, Brault J, Brokamp E, Toro C, Gahl WA, Macnamara EF, Wolfe L; Undiagnosed Diseases Network; Waisfisz Q, Zwijnenburg PJG, Ziegler A, Barth M, Smith R, Ellingwood S, Gaebler-Spira D, Bakhtiari S, Kruer MC, van Kampen AHC, Wanders RJA, Waterham HR, Cassiman D, Vaz FM. An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids. Genet Med. 2021 Apr;23(4):740-750. doi: 10.1038/s41436-020-01027-3. Epub 2020 Nov 26.
- Shashi V, Pena LD, Kim K, Burton B, Hempel M, Schoch K, Walkiewicz M, McLaughlin HM, Cho M, Stong N, Hickey SE, Shuss CM; Undiagnosed Diseases Network; Freemark MS, Bellet JS, Keels MA, Bonner MJ, El-Dairi M, Butler M, Kranz PG, Stumpel CT, Klinkenberg S, Oberndorff K, Alawi M, Santer R, Petrovski S, Kuismin O, Korpi-Heikkila S, Pietilainen O, Aarno P, Kurki MI, Hoischen A, Need AC, Goldstein DB, Kortum F. De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype. Am J Hum Genet. 2016 Oct 6;99(4):991-999. doi: 10.1016/j.ajhg.2016.08.017. Epub 2016 Sep 29.
- Beziat V, Tavernier SJ, Chen YH, Ma CS, Materna M, Laurence A, Staal J, Aschenbrenner D, Roels L, Worley L, Claes K, Gartner L, Kohn LA, De Bruyne M, Schmitz-Abe K, Charbonnier LM, Keles S, Nammour J, Vladikine N, Maglorius Renkilaraj MRL, Seeleuthner Y, Migaud M, Rosain J, Jeljeli M, Boisson B, Van Braeckel E, Rosenfeld JA, Dai H, Burrage LC, Murdock DR, Lambrecht BN, Avettand-Fenoel V, Vogel TP; Undiagnosed Diseases Network; Esther CR, Haskologlu S, Dogu F, Ciznar P, Boutboul D, Ouachee-Chardin M, Amourette J, Lebras MN, Gauvain C, Tcherakian C, Ikinciogullari A, Beyaert R, Abel L, Milner JD, Grimbacher B, Couderc LJ, Butte MJ, Freeman AF, Catherinot E, Fieschi C, Chatila TA, Tangye SG, Uhlig HH, Haerynck F, Casanova JL, Puel A. Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome. J Exp Med. 2020 Jun 1;217(6):e20191804. doi: 10.1084/jem.20191804.
- Johnstone DL, Nguyen TTM, Zambonin J, Kernohan KD, St-Denis A, Baratang NV, Hartley T, Geraghty MT, Richer J, Majewski J, Bareke E, Guerin A, Pendziwiat M, Pena LDM, Braakman HMH, Gripp KW, Edmondson AC, He M, Spillmann RC, Eklund EA, Bayat A, McMillan HJ, Boycott KM, Campeau PM. Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature. J Inherit Metab Dis. 2020 Nov;43(6):1321-1332. doi: 10.1002/jimd.12278. Epub 2020 Aug 3.
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Daty zapisu na studia
Daty te śledzą postęp w przesyłaniu rekordów badań i podsumowań wyników do ClinicalTrials.gov. Zapisy badań i zgłoszone wyniki są przeglądane przez National Library of Medicine (NLM), aby upewnić się, że spełniają określone standardy kontroli jakości, zanim zostaną opublikowane na publicznej stronie internetowej.
Główne daty studiów
Rozpoczęcie studiów (Rzeczywisty)
16 września 2015
Zakończenie podstawowe (Szacowany)
31 grudnia 2028
Ukończenie studiów (Szacowany)
31 grudnia 2028
Daty rejestracji na studia
Pierwszy przesłany
19 maja 2015
Pierwszy przesłany, który spełnia kryteria kontroli jakości
19 maja 2015
Pierwszy wysłany (Szacowany)
21 maja 2015
Aktualizacje rekordów badań
Ostatnia wysłana aktualizacja (Rzeczywisty)
11 czerwca 2026
Ostatnia przesłana aktualizacja, która spełniała kryteria kontroli jakości
10 czerwca 2026
Ostatnia weryfikacja
9 czerwca 2026
Więcej informacji
Terminy związane z tym badaniem
Słowa kluczowe
Dodatkowe istotne warunki MeSH
Inne numery identyfikacyjne badania
- 150130
- 15-HG-0130
Informacje o lekach i urządzeniach, dokumenty badawcze
Bada produkt leczniczy regulowany przez amerykańską FDA
Nie
Bada produkt urządzenia regulowany przez amerykańską FDA
Nie
Te informacje zostały pobrane bezpośrednio ze strony internetowej clinicaltrials.gov bez żadnych zmian. Jeśli chcesz zmienić, usunąć lub zaktualizować dane swojego badania, skontaktuj się z register@clinicaltrials.gov. Gdy tylko zmiana zostanie wprowadzona na stronie clinicaltrials.gov, zostanie ona automatycznie zaktualizowana również na naszej stronie internetowej .
Badania kliniczne na Choroba genetyczna
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Peking University Third HospitalJeszcze nie rekrutacjaCentral Compartment Atopic Disease (CCAD)Chiny
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Bambino Gesù Hospital and Research InstituteZakończonyCiężka otyłość dziecięca (BMI > 97° szt. -według wykresów BMI Centers for Disease Control and Prevention-) | Zmienione testy czynnościowe wątroby | Nietolerancja glikemicznaWłochy
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Spero TherapeuticsZakończonyKompleks Mycobacterium Avium | Niegruźlicze Mycobacterium Pulmonary DiseaseStany Zjednoczone
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Janssen Pharmaceutical K.K.ZakończonyOporna na leczenie Mycobacterium Avium Complex-lung Disease (MAC-LD)Tajwan, Japonia, Korea Południowa
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Adelphi Values LLCBlueprint Medicines CorporationZakończonyBiałaczka z komórek tucznych (MCL) | Agresywna mastocytoza układowa (ASM) | SM w Assoc Clonal Hema Lineage Non-mast Cell Lineage Disease (SM-AHNMD) | Tląca się mastocytoza układowa (SSM) | Indolentna układowa mastocytoza (ISM) Podgrupa ISM w pełni zatrudnionaStany Zjednoczone