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Profile
Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… not having a Ph.D. and having to learn not only the basic technologies, but also some novel technologies that appear all the time. I eventually learned … genomics? Ferreira: I’m hoping to incorporate new genomic technologies and try new therapies for patients. There are …
Profile
Reflecting on his NIH career, Dr. Smith recounts his journey from researcher to program director in a conversation with NHGRI science writer Sonja Soo, Ph.D. He looks ahead to a retirement filled with traveling, spending time with friends and family, playing pickleball and brewing ale.
… I chose to focus on the controversy around recombinant DNA technologies. I remember flipping through the pages of the … broadly defined assignment helped me narrow my focus to molecular genetics in graduate school. … Soo: What did you do … from Johns Hopkins University with a concentration in molecular genetics. Before joining NHGRI, Dr. Smith spent 20 …
Event
The Advances in Genomic Technology Development (AGTD) 2022 Annual Meeting was hosted by the Technology Development Coordinating Center (TDCC) from July 12-14, 2022 at The Jackson Laboratory (Farmington, CT).
… 10:10 a.m. High Throughput, Multiplexed Epigenomic Profiling of Primary Tissue for Molecular Interrogation of Clinical Disease States Sarah … sequencing, genomic analyses, and synthetic nucleic acid technologies. The hybrid meeting brought together NHGRI …
Profile
Jim Mullikin pioneered DNA sequencing technologies during the Human Genome Project and other major advances in genomics.
… Mullikin pioneered DNA sequencing technologies during the Human Genome Project and other major … evolved in tandem with rapidly advancing DNA sequencing technologies. When I was appointed acting director in 2009, … sequencing to the massively parallel modern DNA sequencing technologies, which revolutionized the field. Now, we can …
Event
The Advances in Genomic Technology Development meeting and Genome Technology Forum were hosted by the National Human Genome Research Institute (NHGRI) Technology Development Coordinating Center (TDCC) at The Jackson Laboratory in Farmington, CT from June 10-13, 2024.
… challenges for advanced genomic sequencing and synthesis technologies, and novel genomic approaches. Grantees showcased the latest developments in genomic technologies, fostering collaboration and innovation in the … to provide insights into recent advancements in genomic technologies, focusing on improving the efficiency, accuracy, …
Profile
David Bodine, founder of the Hematopoiesis Section and chief of the Genetics and Molecular Biology Branch, advanced the fields of gene therapy and hematology in his 38 years at the NIH. Now, he plans to continue his contributions to science as an emeritus and through training the next generation of scientists.
… NHGRI Hematopoiesis Section and chief of the Genetics and Molecular Biology Branch, now scientist emeritus after 38 … cell? When is it active? What does it do?” We have great molecular profiles for all the different cell types, but we … have been able to do single-cell gene expression profiling on whole tissues. If we apply those tools in …
Research Training
Two-year fellowships for M.D.s and Ph.D.s in cytogenetics, biochemical genetics and molecular genetics.
… the expertise to oversee and interpret cytogenetic and molecular genetic tests important in the diagnosis and … rotate through a variety of CLIA-certified cytogenetic and molecular genetics diagnostic laboratories at the NIH and … … Program Leadership … Program Director (Clinical Molecular Genetics and Genomics) … Associate Program Director …
Event
The Advances in Genomic Technology Development (AGTD) 2023 Annual Meeting was hosted by the Technology Development Coordinating Center (TDCC) in-person and virtually from Tuesday, June 6, until Thursday, June 8, at The Sanford Consortium for Regenerative Medicine, La Jolla, CA.
… Hutter, Ph.D. NHGRI Stephanie Morris, Ph.D. NHGRI Genome Technologies: Protein-DNA Interactions Session Moderators: … San Diego 9:00 a.m. Single-cell and single-molecule profiling of protein-DNA interactions by MACHA Sebastian … Versatile, exponentially scalable methods for single cell molecular profiling Jean-Benoît Lalanne, Ph.D., University of …
Research Funding
Effort to accelerate understanding of the molecular basis of cancer using genome analysis technologies, including large-scale genome sequencing.
… next stage  (2015)   NIH-funded study uncovers range of molecular alterations in head and neck cancers, new potential … and National Cancer Institute Deputy Director for Advanced Technologies and Strategic Partnerships Anna D. Barker find … coordinated effort to accelerate our understanding of the molecular basis of cancer through the application of genome …
Event
NHGRI hosted the virtual Advanced Genomic Technology Development Meeting on May 27-29, 2020.
… challenges faced with advanced sequencing and genomic technologies. The meeting will bring together NHGRI Genomic …