The Undiagnosed Diseases Network at the ASHG 2021 Virtual Meeting
The Undiagnosed Diseases Network (UDN) is participating in the American Society of Human Genetics (ASHG) Virtual Meeting from October 18-22, 2021. Click here for a printable list of UDN talks and posters. PLATFORM PRESENTATIONS 1153 Bi-allelic variants in the autophagy gene ATG4D are associated with a pediatric neurological disorder characterized by hypotonia, joint laxity, and delayed speech […]
19th of October 2020
The Undiagnosed Diseases Network at the ASHG 2020 Virtual Meeting
The Undiagnosed Diseases Network (UDN) is participating in the American Society of Human Genetics (ASHG) Virtual Meeting from October 27-30, 2020. Click here for a printable list of UDN talks and posters. PLATFORM PRESENTATIONS 1032 – Transcriptome-directed genomic analysis accelerates diagnosis and overcomes limitations of exome sequencing and chromosomal microarray (D.R. Murdock) 1052 – Somatic Mutations […]
23rd of April 2020
2020 ACMG Annual Clinical Genetics Meeting Digital Edition Poster Gallery
The 2020 ACMG Annual Clinical Genetics Meeting Poster Gallery is available online. Visit this link to view posters and abstracts. Posters by UDN investigators are listed below. De Novo Mutations In TOMM70, An Outer Mitochondrial Membrane Translocase Subunit, Causes Developmental Delay And Neurological Phenotypes (L. Briere) Engaging Patients In Research Through The Participant Engagement And […]
16th of September 2019
The Undiagnosed Diseases Network at ASHG 2019
The Undiagnosed Diseases Network will be at the American Society of Human Genetics (ASHG) Annual Meeting in Houston, TX from October 15-19, 2019. Information about the UDN will be available at the National Human Genome Research Institute booth (#227) during exhibit hours. Click here to view a printable list of UDN presentations. The UDN Coordinating […]
21st of March 2019
The Undiagnosed Diseases Network at ACMG 2019
The Undiagnosed Diseases Network will be at the American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting from April 2-6, 2019. Information about the UDN will be available at booth #201 during exhibit hours. Click here to view a printable list of UDN presentations. The UDN Coordinating Center team will be sharing […]
3rd of October 2018
The Undiagnosed Diseases Network at ASHG 2018
The Undiagnosed Diseases Network will be at the American Society of Human Genetics (ASHG) Annual Meeting in San Diego, CA from October 16-20, 2018. Information about the UDN will be available at the National Human Genome Research Institute booth (#329) during exhibit hours. Click here to view a printable list of UDN presentations. The UDN […]
2nd of April 2018
The Undiagnosed Diseases Network at ACMG 2018
The Undiagnosed Diseases Network will be at the American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting from April 10-14, 2018. Information about the UDN will be available at booth #720 during exhibit hours. Click here to view a printable list of UDN presentations. The UDN Coordinating Center team will be sharing […]
4th of October 2017
The Undiagnosed Diseases Network at ASHG 2017
The Undiagnosed Diseases Network will be at the American Society of Human Genetics (ASHG) Annual Meeting in Orlando, Florida from October 17-21, 2017. Information about the UDN will be available at the NIH Common Fund booth (#952) and the NHGRI booth (#855) during exhibit hours. Click here to view a printable list of UDN presentations. […]
11th of April 2017
My sibling has special needs: a Q&A
Introduction Emily Glanton, a genetic counselor and project manager at the UDN Coordinating Center at Harvard Medical School, recently sat down with 10-year-old Aleah Smith and her father Chad to talk about Aleah’s experiences as a sibling of someone with special needs. Aleah’s little brother, Blake, is 7 years old and is undiagnosed. Q&A Q. […]
9th of March 2017
The Undiagnosed Diseases Network at ACMG 2017
The Undiagnosed Diseases Network will be at the American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting in Phoenix, Arizona from March 21-25, 2017. Attendees can stop by Booth #437 to chat with UDN investigators and learn more about the study. UDN Speaker Presentations Thursday, March 23, 1:30 PM – 3:30 PM […]