We would like to thank everyone who entered our 2021 Abstract Competition. It is wonderful to read about the different ways Golden Helix software is being applied around the world. It is our pleasure to announce this year’s winners!
First Place: Viney Gupta – All India Institute of Medical Sciences – AIIMS
Digenic Inheritance in Juvenile Open-Angle
Professor Viney Gupta is a glaucoma specialist at the All India Institute of Medical Sciences (AIIMS), New Delhi, India. He finished his residency in Ophthalmology in 1996 from AIIMS and has been involved in teaching, clinical work, and research for almost 25 years. His primary research interest includes Pediatric and Juvenile glaucomas. He is currently the founding member and President of the Indian Paediatric glaucoma Society(IPGS). Prof. Viney is also an MBA in Health Administration.
Prof. Viney has published more than 170 papers in peer-reviewed journals and is a renowned national and international speaker. He has mentored the post-graduate thesis of more than 50 residents of Ophthalmology. Prof. Gupta’s primary research is focused on understanding the clinical and genetic aspects of Juvenile glaucomas.
On the subset of Juvenile glaucomas, Prof. Viney has the maximum work in the world. His team, over the years, has followed up on more than 600 unrelated cases of Juvenile glaucomas and their families. They have published on the long term progression rates among Juvenile glaucomas, the prevalence of different mutations among sporadic and familial forms of Juvenile glaucomas, and their quality of life.
Prof Viney, in 2017, published on the Inheritance patterns of Juvenile glaucoma after analyzing 336 families and concluded that contrary to what was thought previously about the disease being autosomal dominant, the disease was primarily either sporadic or autosomal recessive in their population and was not monogenic but had a strong genetic heterogeneity.
Beyond Academics and patient care, Prof. Viney likes to go on treks with his family and friends.
Second Place: Dr. Jair Antonio Tenorio – Medical and Molecular Genetics Institute (INGEMM)
Novel TRAF2 variant and KDR deletion are implicated in the pathogenesis of pulmonary arterial hypertension
I am a molecular geneticist, Ph.D. in biomedicine, and specialized in rare diseases of genetic basis. I have been working at the Medical and Molecular Genetics Institute at the Hospital Universitario La Paz in Madrid, Spain, for more than 10 years. During this time, I have been dedicated to the research and diagnosis of genetic disorders of diverse nature, including skeletal dysplasias, congenital malformations, genodermatosis, epileptic encephalopathy, pharmacogenetics, and growth disorders, describing for the first time a genetic syndrome associated with pathogenic variants in the RNF125 gene which is currently named Tenorio Syndrome by the OMIM database. In total, I have published more than 50 articles in scientific journals, book chapters, and publications in international congresses and conferences. Additionally, I spent some time as a visiting professor at Stanford University School of Medicine, California, USA.
More recently, I have focused on the study of Pulmonary Arterial Hypertension (PAH), a rare disease with high mortality, and in which knowledge about the genetic basis has been growing exponentially over the last few years. As a result, our group has recently described a new mechanism possibly associated with the development of PAH, which includes alterations in the TRAF2 gene, as well as a deletion that includes the KDR gene, in a patient with an associated form of the disease. The results of this work will increase our knowledge of the molecular basis of PAH, as well as the inheritance mechanisms associated with the disease and the diagnosis of associated forms of the disease.
I am a member of the ClinGen Pulmonary Hypertension expert group, which is in charge of reviewing and establishing the relationship of genes with the disease. In addition, I am part of the international research group PAH-ICON, which is made up of researchers from all over the world, who share an interest in genetic studies in this disease.
Besides work, my great passion is traveling around the world and getting to know other cultures, and spending time with my family.
Second place winner continued…..
Natalia Gallego Zazo (INGEMM)
I am a graduate in Biology, with a master’s degree in Cell Biology and Genetics and I am currently developing my Ph.D. thesis in the Molecular Biosciences program at the Autonoma University of Madrid. I started my research career in 2017 at the Institute of Medical and Molecular Genetics of the University Hospital La Paz, where I carried out my Final Degree Project based on the study of the genetic and molecular basis of a rare disease, Pulmonary Arterial Hypertension (PAH). I continued my training in 2019 with the completion of my Master’s Thesis on the same disease. Subsequently, in 2020 I have started the completion of my doctoral thesis in PAH. Since then, I have specialized in the field of human genetics and have gained experience in the application of molecular techniques for genetic diagnosis such as NGS, Sanger sequencing, and bioinformatics analysis tools.
Currently, my work is focused on the search for new genes associated with the development of PAH. As a result of this work, our group has described by whole exome sequencing a new variant in the TRAF2 gene and a deletion including the KDR gene in a patient with an associated form of PAH. These results represent a breakthrough in the knowledge of the genetic basis of the disease, which may have a great impact on patient care and the development of personalized treatments.
Third Place: Zaira Estrada Reyes – University of California Davis
Utilization of NGS data and genomic selection to rescue an endangered and heritage sheep breed from Florida
Dr. Zaira Estrada-Reyes is a Postdoctoral Employee at the University of California Davis. She is currently working with Dr. Huaijun Zhou and her research focuses on animal genomics. Her research interests also include the genetics and epigenetics controlling disease resistance and heat stress in different livestock species including beef cattle, sheep/goats, and poultry.
Several of her research efforts have been focused on the rescue of an endangered and heritage sheep breed from Florida which is known as Florida Cracker sheep. In collaboration with Dr. Owen Rae from the University of Florida, she has evaluated the genetics of disease resistance in this breed and is currently investigating the role of CNVs in controlling parasite resistance.
Zaira has published alongside her research collaborators in the International Journal for Parasitology, BMC Genomics, Parasite Immunology, and the Journal of Animal Science.
She previously received her Ph.D. in Animal Molecular and Cellular Biology from the University of Florida and has completed 2 years of Post-doctoral training.
Outside of research, Zaira enjoys spending time with her 5-year old daughter and her Basset Hound dog and exploring nature.
Again, we had a vast number of submissions for this contest. I’d like to thank everyone who put forward an abstract for their contributions. Please join me in congratulating the winners. Feel free to also check out some of our other blogs that contain important, useful news and updates for the next-gen sequencing community.