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Showing posts from June, 2026

Uncovering the Clinical Characterization and Mechanisms of Fibrodysplasia Ossificans Progressiva (FOP) By: Sharen Rego

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 Introduction Fibrodysplasia Ossificans Progressiva or FOP is an exceedingly rare, yet severely disabling genetic disorder, characterized by the abnormal formation of bone tissue outside of the normal human skeleton (heterotopic ossification). This can occur within soft tissues like the skeletal muscles, tendons, and ligaments. With an estimated one in two million people affected globally, FOP represents one of the most complex genetic conditions known to modern medicine. Raising awareness for this disorder is crucial, as early symptoms are often misdiagnosed as cancer, leading to harmful medical interventions like biopsies or routine muscle injections which trigger irreversible bone growth. Main Body At the cellular level, FOP is caused by a specific mutation in the ACVR1 gene located on chromosome 2. This gene provides instructions for making a specialized receptor protein that controls when and where the body builds bone tissue (such as during fetal development or when healing a...

Neutropenia: Understanding Causes, Symptoms, and Challenges By: Alexandra H. Nedeleu

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 Teen Med Spot Blog 28 June 2026 Neutropenia: Understanding Causes, Symptoms, and Challenges Neutrophils are the type of white blood cell that attack bacteria in blood and defends against bacterial infections. Neutropenia is a very rare blood condition that causes the body to have a reduced amount or lack of those neutrophils. Since the lack of cells, those who are diagnosed with neutropenia are more likely to have a greater risk of infection and many of those infections can be deadly. There are many ways that someone could be diagnosed with Neutropenia such as developing it during chemotherapy, certain viral infections, and others may even be born with it. To thoroughly understand the causes, it’s also important to understand the symptoms. Neutropenia doesn’t have symptoms it’s the infections that do. Symptoms for infections may include fever, fatigue, sore throat, etc. However, if you have mild neutropenia, you might not experience any symptoms because your body doesn’t have the ...

Understanding Sickle Cell Disease: Causes, Management, and Awareness By: Arwa Baghzali

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  Teen Med Spot 29 June 2026 Understanding Sickle Cell Disease: Causes, Management, and Awareness Anemia is a condition that is developed when the blood in our bodies cannot produce enough healthy red blood cells, meaning your body receives a lower-than-normal amount of oxygen-rich blood. In sickle cell disease – also known as sickle cell anemia – typical disc-shaped blood cells are distorted, often appearing crescent or sickle-like. This disorder is specifically genetic and inherited, and it is known to damage organs and shorten lifespans. Sickle cell disease is a prominent disease worldwide, affecting more than 100,000 people in the United States and roughly 8 million people globally. A shocking finding is that people who inherit only one copy of the sickle cell gene (sickle cell trait) naturally have a significant defense against malaria! In healthy individuals, blood cells are normally donut-shaped with an indentation in the center while also being flexible so they can easi...

Blau syndrome: A Rare Auto-Inflammatory Disorder By: Maria Tzortzis

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 Blau syndrome (BS) is a rare inherited autoinflammatory disorder affecting less than 1 in 1 million children worldwide. Typically, the disease has an early onset, affecting children around 3 to 4 years of age. Blau syndrome is characterized by dermatologic, rheumatologic, and ophthalmologic manifestations. Some symptoms consist of skin rashes, arthritis, and uveitis– a condition that causes inflammation of the uvea. It is caused by a change in the NOD2 gene, which is typically responsible for the development of a protein that plays an important part in immune system function. As of today, there is no treatment. Blau syndrome is primarily inherited through genetics. It is an autosomal dominant disorder, meaning only one parent needs to have Blau syndrome to give their child a 50% chance of developing it. It is possible for a child to inherit the gene mutation without the disease itself, and give their future children a 50% chance of developing it as well. In someone with Blau syndr...

Sickle Cell Anemia: Causes, Symptoms, and Advances in Medical Approaches By Sierra Raphael

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  Abstract This paper examines the genetic causes, complications, symptoms, and medical treatments of Sickle Cell Anemia. To further the advancement in the fight against this disease, the scope of understanding has to be broadened through reexamining our existing treatments as well as progress made. Sickle Cell Anemia is a disease that carries stigma fueled by misconceptions about its effects. Furthermore, evaluating and approaching the topic with the nuance needed to allow for productive collaboration is the goal of this paper. Introduction Sickle Cell Anemia (SCA) is one of the most prevalent blood disorders inherited in the world, touching the lives of millions of people, but predominantly those of African, South American, Middle Eastern, Mediterranean, and South Asian origin. Resulting from a mutation in the HBB gene (which encodes part of hemoglobin), the signature of this disease is the abnormal form of hemoglobin (hemoglobin S), with molecules that fuse to form sickle-shaped...

Schizophrenia Overview (Under-Funded and Under-Studied) - Maya Chahbi

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 Introduction: Schizophrenia is a neurological disorder that impacts how people feel,think,and behave.People with schizophrenia can lose touch in reality,which makes their everyday life hard.Many people with schizophrenia aren't even aware they have it.Schizophrenia is important because it is a cause of worldwide disability and early mortality.Schizophrenia impacts about 24 million people global to about 1 in 300 people. Causes: Currently, we do not know the exact cause of schizophrenia,but researchers believe that a mix of genetics,environment,and brain chemistry can play a part.Changes in specific naturally occurring in brain chemicals,like glutamate and dopamine, can play a part in schizophrenia.While researchers have not yet apply their current finding to new medications,these findings show that schizophrenia is a brain disease. Symptoms: The most common symptoms include delusions,hallucinations, and unorganized thinking and speech.Hallucinations can happen with any of the sens...

Endometriosis Overview (Under-represented disease) - Maya Chahbi

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 Endometriosis Introduction: Endometriosis is a condition often called painful because a tissue which is alike to the inner lining of the uterus grows outside the uterus.It frequently affects the ovaries,the tissue lining of the pelvis and fallopian tubes.Endometriosis can cause pain,particularly during menstrual periods.You may also develop fertility problems,but treatments can help relieve its complications.It mainly affects women and people who are born with a uterus during their reproductive years .It is important because it affects 1 in 10 reproductive-age individuals,causes enervating long-standing pelvic pain,and is the main cause for infertility. Causes: Endometriosis causes immune system condition,endometrial cell transport,and surgical scar complication.A problem with the immune system condition can make the body not be able to identify and destroy endometriosis tissues.Endometrial cell transport can move these cells to other parts of the body.During surgery to the stomac...

Fibrodysplasia Ossificans Progressiva: Science, Diagnose, and Treatments

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  24 June 2026 Fibrodysplasia Ossificans Progressiva: Science, Diagnose, and Treatments Fibrodysplasis Ossificans Progressiva or (FOP) is a rare genetic disease where the muscles, ligaments, and tendons become rock solid bone. Where it creates a second skeleton and immobilizes the body. It’s important for us to learn about this disease because it builds awareness for people who struggle with it and makes it known. This disease affects people who had a gene mutation during the early stages of embryonic development. But in some cases it can be inherited from parents but most cases are from a gene mutation in the ACVR1 receptor. Next, the science behind how one gets this disease is quite interesting. First it starts out as a cluster of cells and in those cells are stem cells. Where they can turn into any cell in the body, whether that be blood cells, bone cells, brain cells, and etc. And they multiply when we are sick or injured. Now in this area of needing a repair there are substanc...

The Question We Ignore: Mental Health Awareness. By: Seth Carnes

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        I'm sure we've all been asked the question when we were younger, “If all of your friends were to jump off a bridge, would you too?” Hearing this question come from my mom one day on the way back from school was so odd to me. I thought it was so weird and randomly prompted. I said what I thought to be the obvious answer, no, and then later followed up with my own question, why? Why are kids asked such a gruesome question every day, and what does their answer reveal about them? I later found out that this simple yes or no answer was intended to imply the mental health state that we were in as kids. But I mean, come on, how many of us actually answered truthfully, and if so, what were our parents supposed to do if they heard a response they didn't like?  Mental health can be described as an illness that affects a person's biological and chemical bases of their brain, causing a disruption in a person's behavior, thinking, or handling everyday life. Incidents...

Sickle Cell; Not Just The Disease By: Gabriella Jones

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    Sickle cell disease is a genetic disorder, meaning it is passed down from parent to child. But not every person with the sickle cell trait actually has sickle cell disease. Let’s use apples as an example. If you have one “red apple" and one “green apple”, you are still a red apple. So you don’t have sickle cell disease, but you still carry the trait. If two people with the sickle cell trait have a child, that still doesn’t mean their child will have sickle cell! Each parent can pass down a “red apple” or a “green apple,” meaning it is possible for their child to not inherit the sickle cell trait at all. Although this outcome is uncommon, having a child with only “green apples,” or sickle cell disease is equally uncommon. The most common outcome is having a child who also has one “green apple” and one “red apple” resulting in the sickle cell trait being carried down.  Unfortunately, people with the sickle cell trait can still experience complications related to the d...

How Does Sickle Cell Disease Affect Patients Psychologically? By: Katherine Jackson

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 Sickle cell disease is a genetic disorder that causes red blood cells to become rigid and crescent shaped, otherwise known as “sickly.” Red blood cells in patients without sickle cell disease, have disc shaped red blood cells. These cells cause issues within the body because they decrease blood flow and die far too quickly. This causes anemia, episodes of pain and discomfort, and potential organ damage. Not only does SCD, sickle cell disease, cause extreme physical trauma, it also negatively impairs the mental wellness of the patient. This disease is extremely overwhelming and confusing. It is a lifelong chronic illness that the patient must come to terms with. Some major psychological effects it can have are, but not limited to, depression, anxiety, insomnia, and social problems. These disorders are caused by the disease itself but also because of the amount of stigma surrounding SCD. Doctors often believe patients with SCD are “drug seekers” due to the amount of pain they are in...

Volunteer Spotlight: Sickle Cell Disease

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 Sickle Cell Disease Submitted by: Vanessa Furaha Date of Submission May 31, 2026 Abstract This research paper examines the biological and systemic challenges of Sickle Cell Disease (SCD) to support a public awareness campaign. SCD is a hereditary disorder where abnormal hemoglobin (Hbs) causes red blood cells to become rigid and sickle-shaped, leading to chronic pain and organ damage. This paper explains inhereitance patterns, noticing that if both parents have the sickle cell trait (HbAS), there is a 25% chance of their child will inherit the disease. Despite its prevalence, SCD faces a lack of funding and public awareness. By reviewing modern treatments like CRISPR-Cas9 and fetal hemoglobin (HbF) induction, this study argues that education and advocacy are necessary to improve healthcare equity and patient outcomes. Introduction Background of study Sickle Cell Disease (SCD) is a significant global health burden characterized by a genetic mutation in the hemoglobin protein. In in...