December 1, 2025 The SPTAN1 c.6908_6916dup (p.D2303_L2305dup) variant causes severe developmental epileptic encephalopathy type 5 (DEE5) with high risks of early mortality. We investigated the molecular interactors of SPTAN1 and provided confirmatory cellular evidence of dominant-negative disease mechanism. We identified specific therapeutic targets within individuals for precision antisense oligonucleotide therapy development and are currently optimizing our candidate oligos

Monday, September 8, 2025 at 12:30 pm US EDT Prion disease is a rapidly fatal neurodegenerative disease with no current standard or care. Since 2019 we have been collaborating with Anastasia Khvorova's lab at UMass to identify and develop a divalent siRNA molecule capable of lowering prion protein across the human brain, as a treatment and preventive therapy. Leveraging a combination of NIH and philanthropic funds, we have identified a lead candidate, completed GLP toxicology

Monday, September 22, 2025 at 12:30 pm US EDT Dr. Shengdar Tsai will describe progress in our efforts to advanced personalized genome editing therapies for pediatric patients with bone marrow failure at St. Jude Children's Research Hospital, as part of a blue sky project called PARADIGM (Partnership to Advance Development of Individualized Genomic Medicines).  Dr. Tsai is an Associate Member in the Department of Hematology at St. Jude Children’s Research Hospital. His lab’s r

Monday, June 23, 2025 at 12:30 pm US EDT Transposon insertions represent a significant yet understudied source of disease-causing...

October 6, 2025 at 12:30 pm US EDT This presentation will cover our laboratory's ongoing efforts in the areas of personalized and precision medicine.  Active research programs focused on the identification of clinically actionable rare genetic variation will also be discussed. Dr. Scott Younger is the Director of Disease Gene Engineering within the Genomic Medicine Center at Children's Mercy Kansas City. Since joining Children's Mercy his laboratory has pioneered methods for

June 2, 2025 at 12:30 pm US EDT Featured in the News: Join us for a seminar spotlighting the groundbreaking case of KJ Muldoon— the first...

March 24, 2025 at 12:30 pm US EST We developed personalized splice-modulating ASOs targeting a deep intronic variant in PEX1 in a 2 year...

Monday, February 24, 2025 at 12:30 pm US EST The traditional analytical life cycle for quality control of drugs fits not well with the...

January 13, 2025 The presentation will review our development of a personalized antisense oligonucleotide (ASO) medicine for two children...

February 10, 2025 at 12:30 pm US EST The session will begin with a presentation from our guest speaker, Dr. Jason Gill, providing an...

December 2, 2024 at 12:30 pm US EST Fibrodysplasia Ossificans Progressiva (FOP) is a devastating, ultra-rare condition, where patients...

November 18, 2024 at 12:30 pm US EST This presentation will cover the progress made in the clinical management and treatment of...

October 21, 2024 at 1:00 pm US EDT Leslie V. Boyer, MD , is a graduate of Harvard Medical School, a Professor Emerita of the University...

November 4, 2024 at 4:00 pm US EST Four hundred million people world wide have a rare disease and yet still less than 5% of patients have...

August 26, 2024 at 12:30 pm US EDT Self-insured employers collectively cover over 120 million lives in the United States. Many of these...

Monday, July 15 2024, 12:30 pm US EDT iXCells Biotechnologies is specialized in providing innovative pre-clinical drug discovery...

September 16, 2024, 12:30 pm US EDT KIF1A associated neurological disorder is a rare neurodegenerative neurological disorder associated...

May 6, 2024 at 12:30 pm US EDT In this webinar, speakers from Berkshire Sterile Manufacturing (BSM) and Argonaut Manufacturing Services...

Monday, April 22 2024 12:30 pm US EDT Early onset SCN2A developmental and epileptic encephalopathy (SCN2A-DEE) is caused by...

Monday, March 25 2024 12:30 pm US EDT This presentation focuses on the control of starting material (SM) quality in the manufacture of...