Gemma Marfany

Gemma Marfany is a prominent figure in the field of genetics, currently serving as a Full Professor of Genetics at the Universitat de Barcelona.12 Her research and academic contributions are primarily focused on the genetic and molecular basis of inherited retinal dystrophies (IRDs).1

Research and Expertise

Professor Marfany leads a research group at the Institute of Biomedicine of the University of Barcelona (IBUB), where she serves as the principal investigator.14 Her team's work is centered on:

1. Genetic diagnosis of families to identify new candidate genes and mutations related to IRDs
2. Functional analysis of IRD genes to understand their physiological roles in health and disease
3. Development of cell and animal models (zebrafish and mouse) to study IRDs1

Academic Positions and Affiliations

• Full Professor of Genetics at the Universitat de Barcelona2
• Member of the board of directors of the Institute of Biomedicine of the University of Barcelona (IBUB)4
• Member of the study council of the Biology Degree program4

Research Impact

Professor Marfany has made significant contributions to the field of genetics, particularly in the area of retinal inherited dystrophies. Some of her notable publications include:

• Research on the CERKL gene mutation causing autosomal recessive Retinitis Pigmentosa
• Studies on the assembly of the nova-regulated alternative splicing network in the vertebrate brain
• Work on the expression atlas of deubiquitinating enzymes in the adult mouse retina1

Professional Network

Gemma Marfany maintains an active professional presence on LinkedIn, where she has over 500 connections.2 Her ORCID ID is 0000-0001-7941-983X, which serves as a unique identifier for her scientific publications and academic work.5

Public Engagement

Beyond her research, Professor Marfany is involved in various academic and public engagement activities:

• She has been a speaker at events such as the Barcelona Deep Tech Summit, sharing her expertise with a broader audience3
• Professor Marfany has participated in discussions on important topics like higher education, health equity, and gender6

Gemma Marfany's work continues to contribute significantly to the field of genetics, particularly in understanding and potentially treating inherited retinal disorders.