As we continue our exploration of rare diseases, Dr. Sam Patel examines their global impact, diagnostic challenges, and treatment gaps, offering insights for researchers, policymakers, and patient advocates working toward better solutions. Rare diseases may be individually uncommon, but together, they affect an estimated 300 million people worldwide (AllHealthPolicy.org, 2023). In the Read more…
As we continue our exploration of rare diseases, this article by Dr. Sam Patel, examines the challenges and opportunities in advancing research for rare conditions, providing actionable insights for researchers, policymakers, and patient advocates alike. For decades, rare disease patients and their families have been overlooked by traditional healthcare systems and Read more…
As we continue our series on SLC6A1 gene disorders, this latest blog entry by Dr. Sam Patel explores how induced pluripotent stem cells (iPSCs) and their differentiated progeny are transforming drug screening platforms, with a focus on antisense oligonucleotides (ASOs) as a therapeutic strategy for genetic conditions like SLC6A1-related disorders Read more…
As we continue our series on SLC6A1 gene disorders, Dr. Sam Patel delves into the function and cellular localization of the SLC6A1 gene in this second blog post. SLC6A1-related disorders are rare genetic conditions affecting young children, leading to seizures, developmental delays, and other neurological challenges. These disorders stem from Read more…
Please join SLC6A1 Connect in welcoming the following blog post from Sam Patel, PhD. Dr. Patel is a seasoned stem cell biologist with expertise in developing novel approaches to discover therapeutics for rare conditions, like SLC6A1 gene disorder. We are hopeful that reprogramming adult cells into Induced Pluripotent Stem Cells (IPSCs) Read more…