Long Read Sequencing Applications to Elucidate the Genetic Basis of Human Disease with Sami Belhadj, PhD

• This webinar will explore Long Read Sequencing (LRS) and how it’s being used to uncover germline genetic alterations associated with rare diseases and hereditary cancer. Technical details about the two main LRS technologies will be summarized and compared to short read sequencing and other conventional orthogonal clinical genetic testing methodologies. Examples of research projects utilizing LRS to elucidate previously unexplained cases will be presented. The integration of LRS in the clinic, challenges and opportunities will be discussed.

  Level of Instruction: Basic-Intermediate

  

  Only the live session qualifies for CEUs but when possible, we host the recordings on our website and NSGC recommends participants to use their personal email instead of work email addresses to ensure they receive their CEU certificates.

  

  Ambry Genetics is approved as a provider for continuing education program by NSGC and ASCLS P.A.C.E ® Program.

Sami Belhadj, PhD | Presenter

Clinical Research Scientist at Ambry Genetics

Dr. Belhadj is a molecular biologist at the R&D department of Ambry Genetics. He is leading research projects at Ambry’s Translational Genomics Laboratory (ATG Lab), which focuses on conducting translational research projects aimed at resolving missing heritability and challenging germline alterations by using emerging technologies such as Long Read Sequencing. He received his PhD in cancer genetics from the University of Barcelona (Spain), where his work at the Hereditary Cancer group (ICO/IDIBELL; Dr. Laura Valle’s group) focused on studying the NTHL1-associated tumor syndrome and characterizing new candidate genes for colorectal cancer predisposition. Prior to joining Ambry in 2022, he completed post-doctoral training in the laboratory of Dr. Kenneth Offit at Memorial Sloan Kettering Cancer Center, focusing on the study of germline NBN variants, and their association with cancer susceptibility.

Jessica Scott, MGC, CGC | Moderator

Genomic Science Liaison at Ambry Genetics

Jessica Scott, MGC, CGC, is a Genomic Science Liaison at Ambry Genetics. Jessica obtained her undergraduate degree in Biology from Radford University in 2002 and graduated from the University of Maryland Master’s in Genetic Counseling (MGC) Training Program in 2005. She practiced clinically in various genetic counseling subspecialties for over fifteen years with a consistent focus on oncology genetics before joining Ambry. Jessica has an interest in the continued education of genetic counselors; she remains actively engaged in the University of Maryland genetic counseling training program and is a coordinator of Ambry’s Case Café webinar series.