TightFittingGenes

Hello It's been a while but I am back for good with yet another intriguing episode. On today's episode, I interview Lisa Graziano. She is currently the Education and Training consultant of Prader-Willi California Foundation (PWCF). She was previously the executive director of PWCF. Prader-Willi syndrome is a rare genetic condition that affects about 1 in 10,000-15,000 live births every year. It is caused due to a defect on chromosome 15. Children affected with PWS have several complications including excessive appetite and overeating (hyperphagia), intellectual disabilities, lack of sexual development, and also severe growth retardation. The Prader-Willi California Foundation (PWCF) is a non-profit organisation established by parents of individuals with this syndrome. You can check their website out for more information or if you would like to contribute in any way to the same. I had an absolute good time speaking to her and just like I learned a lot about PWS, I hope, through this episode, you will be able to do the same. Want to know more about Prader-Willi syndrome? Here are some resources and links. 

Prader-Willi Syndrome Genetics: https://www.nature.com/articles/gim0b013e31822bead0 

How to manage Prader-Willi Syndrome? https://www.nhs.uk/conditions/prader-willi-syndrome/living-with/ 

Growth hormone treatments and cognitive functioning in children with Prader–Willi syndrome: https://eje.bioscientifica.com/view/journals/eje/182/6/EJE-20-0222.xml. 

Prader-Willi Syndrome Association USA: https://www.pwsausa.org/

PWCF(Prader-Willi California Foundation): http://www.pwcf.org/ 

Prader-Willi Syndrome Association UK: https://www.pwsa.co.uk/ 

International Prader-Willi Syndrome Organisation (IPWSO) - https://ipwso.org/ 

More links of the TightFittingGenes  

You can check out Instagram: https://www.instagram.com/tightfittinggenespodcast/?hl=en

Tissue engineering has been providing an alternative to the current problems in conventional practices of transplantation and tissue reconstruction. The topic about finding the right architecture for more complex structures has been a major interest in the recent times. There are many researchers working on this problem, and I had the chance to speak to one on this episode. Aysegul and her team using animal sources, have developed a scaffold for tendons which can be used as an off-the-shelf product. The method utilises a protocol called decellularization. Although decellularization has existed for a while, their protocol is a milder version which retains the “biochemical and biomechanical properties” of the developed tendon scaffold. She is an amazing researcher, but moreover, and amazing human being. Currently, being done with her postdoctoral studies in developing scaffolds in a more sustainable way, she helps us understand the importance of having sustainable biotech processes. You can read her work in porcine achilles tendon scaffolds here: https://www.sciencedirect.com/science/article/pii/S2468498820300019

abc

Janie F Shelton is a senior epidemiologist at 23andME, a DNA testing company that provides personalized health insights. She and her team co-authored a paper titled “Trans-ancestry analysis reveals genetic and nongenetic associations with COVID-19 susceptibility and severity”. In this paper, the team conducted a study with over 1,051,032 23andMe participants and were able to associate various genetic and non-genetic factors with COVID19’s severity. Interestingly, they were also able to understand why some ethnicities might be affected more than the rest through the trans ancestry GWAS (Genome Wide Association Studies). The team is also conducting several other researches to understand COVID19 more.

Resources