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The Secrets of Lil Bub: Algeciras-born Scientist at the forefront of research into human genetics in Germany
Algeciras-born scientist Darío Jesús García Lupiañez, a member of the Department of Developmental Biology at the Max Delbruck Centre (MDC) for Molecular Medicine in the Helmholtz Association of German Research Centres, was part of the reception committee that greeted Chancellor Angela Merkel on the 28th of February.
This took place at the opening ceremony for the new Centre for Biology of Molecular Systems research building.
The presence of García Lupiañez among the scientific elite of the healthcare industry are a testament to the significance of his research into the human genome as well as the new heights achieved by himself and his team.
As Chancellor Merkel said herself, there is a need for excellence in order to fight disease through biomedical research.
According to Professor Martin Lohse, Director of MDC, this building is open to the ‘outside world’, that is to say, open to all forms interdisciplinary collaboration, and to welcome in the most prominent healthcare scientists from around the world.
The new MDC centre, which will be the second facility of its kind in the heart of Berlin, will house 250 researchers working in 16 laboratories at the Institute of Biology and Medical Systems.
The last public appearance made by García Lupiañez in Algeciras was during the Diverciencia Festival opening ceremony in April 2018. At this high-level conference, the researcher explained that changes to the human genome can cause health problems.
It was discovered that genomes have a ‘nucleus shape’, and that the origin of some diseases, such as congenital malformations, could be attributed to it. He also stressed that a genetic mutation could also be beneficial or neutral.
THE SECRETS OF LIL BUB
Darío J. García Lupiañez, alongside two other young researchers Daniel M. Ibrahim and Orsolya Symmons, have been working on an impressive project known as ‘LilBubhome.
The research entails studying the sequencing of the unusual genetics of Lil Bub’, a cat which has a number of mutations that affect its physical appearance and health.
The three scientists posited that the study of this feline’s genome sequence could help them understand certain human diseases.
Lil Bub suffers from dwarfism, polydactylism (with a total of 22 digits on its paws) and a deformation of its lower jaw which causes its tongue to permanently protrude from its mouth, as well as bulging eyes and osteopetrosis, also known as ‘marble bone disease’.
Images of the cat surfaced in the media and across social networks at the tail-end of 2011. Lil Bub went viral and immediately became a celebrity.
The scientists decided to take care of the cat for research purposes in order to better understand diseases found in wild animals and humans, on the premise that “…if we know the specific mutations, it is almost certain that therapies could be applied more efficiently”.
This was confirmed by the team as soon as the scientific project began. The research was funded through money raised online, which in just three days achieved its first target of $6,500.
WHAT IS THE HUMAN GENOME?
The human genome is the DNA sequence contained in the 23 pairs of chromosomes in the nucleus of every human diploid cell. Of the 23 pairs, 22 are autosomal chromosomes and one sex-determining pair (two X chromosomes in women, and one X and one Y in males).
The human genome project is expanding our knowledge of how DNA mutations in individuals can completely change the way of diagnosing, treating, and preventing a large number of diseases that affect humans, as well as providing the tools to better understand human biology.
