This inventor holds 5 USPTO granted patents and 2 published patent applications, plus 2 CIPO patents and 1 EPO patent. Top assignees: Icahn School of Medicine at Mount Sinai, University of California, The Brigham and Women's Hospital, Inc.. Active years: 1998-2014.
Location History:
- New York, NY (US) (2012)
- Dobbs Ferry, NY (US) (1998 - 2014)
Company Filing History:
5 out of 535 
2 out of 15,988 
1 out of 1,424 
Years Active: 1998-2014
Title: Bruce D Gelb: Innovator in Genetic Diagnostics
Introduction
Bruce D Gelb is a prominent inventor based in Dobbs Ferry, NY (US). He has made significant contributions to the field of genetic diagnostics, particularly in relation to Noonan syndrome and its associated mutations. With a total of 5 patents, Gelb's work has advanced the understanding and diagnosis of genetic disorders.
Latest Patents
One of Gelb's latest patents focuses on SHOC2 mutations causing Noonan-like syndrome with loose anagen hair. This invention is directed to methods of diagnosing this syndrome by detecting mutations in the SHOC2 gene. A specific diagnostic mutation disclosed is an A-to-G transition at position 4, resulting in a mutation at position 2 of the SHOC2 amino acid sequence from serine to glycine. The invention also provides related sequences and kits for effective diagnosis. Another significant patent describes compositions and methods for detecting Noonan syndrome. This patent outlines diagnostic and therapeutic applications based on mutations in the RAS-specific guanine nucleotide exchange factor gene SOS1 and the serine/threonine protein kinase gene RAF1. It includes nucleotide sequences, amino acid sequences, probes, and primers related to these genes, as well as host cells expressing such variants.
Career Highlights
Throughout his career, Gelb has worked with esteemed institutions such as the Icahn School of Medicine at Mount Sinai and the University of California. His research has been pivotal in the field of genetics, particularly in understanding the molecular basis of various syndromes.
Collaborations
Gelb has collaborated with notable colleagues, including Marco Tartaglia and Len A Pennacchio. These partnerships have further enriched his research and contributions to genetic diagnostics.
Conclusion
Bruce D Gelb's innovative work in genetic diagnostics has led to important advancements in the understanding and treatment of genetic disorders. His patents reflect a commitment to improving diagnostic methods and therapeutic applications in the field of genetics.