Introduction Nutrigenomics is the scientific study of how an individual’s genes influence their response to nutrients, and how nutrients in turn can affect gene expression (2). This emerging field explores the biological relationship between diet and the genome, aiming to explain why people may respond differently to the same foods (2). Traditional dietary guidelines are often designed as universal recommendations (5). However, genetic variation means that individuals metabol

Neurological diseases are disorders that are specially difficult for the general population to understand, but they are often even more complicated to explain for scientists and treating physicians. In general, we can make two broad distinctions between these diseases: inherited and acquired. The former has genetic and epigenetic causes and are the result of one or more pathological variations and SNPs (single nucleotide polymorphisms, small “mutations” that everybody has and

Introduction In the early 2010s, CRISPR transformed genetic research and quickly became a dominant tool in life sciences. As research progressed, newer techniques emerged to address some of its limitations. Two major developments, base editing and prime editing, were pioneered in the lab of David Liu. These approaches aim to make gene editing more precise while avoiding some of the challenges associated with traditional CRISPR methods. Base Editing First described in 2016, ba

Pharmacology is the auxiliary science of medicine that has helped us fight disease, pain and all kind of problems, but it has always encountered a problem: every person is quite unique from a genetic point of view, and that usually don’t represent a problem at all, most of the truly important differences are well known by physicians and are extremely rare from a statistical point of view; but in the last years we have got to know something we were previously ignoring complete

Crohn's disease (CD) represents a complex, chronic, and progressive inflammatory condition of the gastrointestinal tract. It is a subtype of inflammatory bowel disease (IBD) that causes chronic inflammation throughout the digestive tract. Unlike ulcerative colitis, CD can affect any segment from the mouth to the anus and often penetrates the deeper layers of the bowel wall. Because inflammation can penetrate deep into the bowel wall, it can lead to complications like strictur

Fatal Familial Insomnia is a rare, fatal, autosomal dominant neurodegenerative prion disease. FFI is caused by mutation in PRNP gene, causing misfolded proteins (prions) in the brain, particularly in thalamus, where sleep-wake cycle is controlled.

Why the Same Chemotherapy Can Help One Patient and Harm Another? Introduction Chemotherapy remains a cornerstone of cancer treatment across many malignancies, yet patient responses vary dramatically. Two individuals receiving the same regimen can experience entirely different outcomes, ranging from excellent tumour control to severe, life-threatening toxicity. For decades, these differences were largely attributed to age, organ function, or chance. Pharmacogenomics has reveal

By: Nesredin Hassen Yesuf LinkedIn | Email Introduction Acromegaly is a rare, chronic endocrine disorder caused by sustained overproduction of growth hormone (GH), typically due to a benign pituitary adenoma. The excess GH stimulates hepatic synthesis of insulin-like growth factor 1 (IGF-1), resulting in widespread tissue overgrowth and systemic complications [1]. Although distinct facial and skeletal changes eventually develop, the onset is gradual, and diagnosis often lags

By Stephen Beesley What is Cell and Gene Therapy? Cell and gene therapy (CGT) are advanced medical approaches that can treat a variety of diseases that derive from an underlying genetic dysfunction (could be either DNA or RNA). Gene therapy delivers genetic material (DNA or RNA) into a patient’s cells to correct or compensate for faulty genes, often using viral vectors such as adeno-associated virus (AAV) and lipid nanoparticles (LNP). This kind of therapy aims for a one-and

Nowadays, medical approaches evolve quite fast, as many investments and efforts are put in place in biomedical sciences research to improve patients' health and therapies success. In recent years, an innovative approach called CRISPR-Cas9 had advanced our success in correcting the development of several genetic diseases. In this article it will be described what CRISPR-Cas9 is, how it works and a recent case study of how this lab technique has been used to remove the extra ch

The idea of correcting a genetic disorder before a child is born once seemed purely fictional. Today, advances in genetic engineering have made this possibility increasingly realistic. At the center of this scientific shift is CRISPR, a powerful gene-editing technology that has dramatically changed how researchers study and manipulate DNA. Gene-editing tools have progressed through three major stages of development. The earliest methods relied on zinc-finger nucleases (ZFNs),

Introduction Despite the widespread success of statins and PCSK9 inhibitors in lowering low-density lipoprotein cholesterol (LDL-C), atherosclerotic cardiovascular disease (ASCVD) remains the leading cause of death globally. A significant portion of this "residual risk" is driven by Lipoprotein(a) [Lp(a)], a genetically determined lipoprotein that affects approximately 20% of the global population (>1.4 billion people). Unlike LDL-C, Lp(a) levels are resistant to diet, exerci

Harmon, R. M., Ayers, J. L., McCarthy, E. F., Kowalczyk, A. P., Green, K. J., & Simpson, C. L. (2025). Pumping the Breaks on Acantholytic Skin Disorders: Targeting Calcium Pumps, Desmosomes, and Downstream Signaling in Darier, Hailey-Hailey, and Grover Disease. The Journal of investigative dermatology , 145 (3), 494–508. https://doi.org/10.1016/j.jid.2024.06.1289 Pathology: Darier disease (DD), also known as dyskeratosis follicularis, is an inherited disease that is aut

Graphic illustration depicting sickle cell disease, retrieved from: https://my.clevelandclinic.org/health/diseases/4579-sickle-cell-anemia In the United States alone, 100,000 individuals suffer from sickle cell anemia, more commonly known as sickle cell disease. Out of this population, around 90,000 are of African American Descent; it is hypothesized that the gene mutation responsible (HBB) was acquired due ot the environmental defense mechanism of fighting against malaria, m

Introduction DICER1 is a gene that plays a crucial role in microRNA (miRNA) processing and, by extension, the regulation of gene expression. Germline mutations in DICER1 cause DICER1 syndrome, a rare autosomal dominant hereditary cancer predisposition syndrome primarily affecting children and young adults. Recognizing the clinical spectrum of DICER1-related disorders is essential for early detection, surveillance, and genetic counseling. What is the DICER1 Gene? The DICER1 g

When we think about developmental delays, we often picture children who simply need more time or support to reach certain milestones. But Angelman syndrome is something much more complex. It’s a rare genetic neurodevelopmental disorder that affects balance, movement, communication, and overall brain function. Despite its challenges, people with Angelman syndrome often have a uniquely warm, happy, and resilient presence, something many families talk about. Still, the condition

Introduction Many of us have occasionally felt very tired and achy, and perhaps thought that it could be due to iron deficiency. However, not many people would think that the symptoms they are experiencing could actually be caused by too much iron in their body. Over time, excess iron can build up in organs such as the liver, heart, and pancreas, which may lead to long-term complications, if left untreated. 1–3 What is hemochromatosis? Hemochromatosis is a condition in which

By Nikki Elmi By Nikki Elmi Ehlers-Danlos Syndrome (EDS) is a group of rare inherited connective tissue disorders that affect the body’s ability to produce or process collagen, an essential protein that provides strength and elasticity to skin, ligaments, blood vessels, and organs. First described by dermatologists Edvard Ehlers and Henri-Alexandre Danlos in the early 1900s, EDS has since been classified into 13 distinct subtypes based on genetic, biochemical, and clinical fe

Most people think of broken bones as temporary injuries, painful, but fixable. But imagine a condition where your body creates extra bones on its own, turning soft tissue like muscles, tendons, and ligaments into solid bone. That’s the terrifying reality of Fibrodysplasia Ossificans Progressiva (FOP), a rare, inherited disorder that slowly traps people inside a “second skeleton.” It’s one of the rarest diseases known to science, affecting only about 1 in 2 million people wo

Introduction: A Microbial Defense Becomes Medicine CRISPR , short for clustered regularly interspaced short palindromic repeats , was first discovered in bacteria and archaea as a natural defense mechanism against viruses. These sequences store snippets of viral DNA, effectively creating a genetic memory that allows the organism to recognize and destroy invaders. Over decades, scientists have harnessed this system to develop powerful gene-editing tools , with applications now