Sugandha Asthana, Ph.D

Cerebral palsy (CP) is a neurodevelopmental disorder that affects different parts of the brain in neonates. For a very long time, it was thought that this condition arose due to delivery complications, including delayed delivery, premature birth, and hypoxic conditions generated during delivery. Still, even after managing these conditions, the incidence rate didn't decrease significantly. Multiple studies and years later, it was observed that CP is not just a perinatal condition but also antenatal and postnatal. In antenatal care, the mother's health is crucial. If the mother has any infectious disease, such as CMV, rubella, toxoplasmosis, or Zika virus, it can penetrate the placental barrier and infect the baby, resulting in CP. Other conditions such as diabetes, hypertension and thyroid conditions can also increase the risk of CP. Apart from this, CP also develops due to chromosomal mutations and epigenetic modifications.

Symptoms of CP depend on which area of the brain is affected. The cortex is affected in spastic CP, resulting in increased muscle tone and increased reflexes. In dyskinetic CP, the basal ganglia are affected, causing involuntary, uncontrolled and repetitive movements with fluctuating muscle tone. Ataxic CP occurs when the cerebellum is affected, causing loss of coordination with hypotonia. In most cases, spastic CP is common, but in some cases, different brain regions are affected, resulting in mixed CP with a wide array of symptoms.

With advances in treatments, including therapies and medicines, most symptoms of CP can be managed. Novel treatment ideas such as glial cell transplantations, nanomedicine and stem cell therapy are under investigation and hold a bright future. Neurogenerative therapies are also being researched. The goal of these studies is to replace lost or injured brain tissue to restore its structure and function. These studies are in the experimental phase and face numerous difficulties, including problems with safety, efficacy and ethics.

Many individuals with CP have achieved fame as actors, writers, activists and comedians. This condition might be limiting, but it certainly isn't limitless.

With the hardships faced by women in their everyday life, one would think that at least their bodies would be in support, but that's not so! Stiff Person Syndrome affects women twice as much as men. Although this disorder is so rare that it is seen in 1 in 1 million people, women are still not spared!

This rare condition is caused when antibodies are formed against Glutamic Acid Decarboxylase (GAD), the rate-limiting enzyme for the synthesis of the inhibitory gamma-aminobutyric acid (GABA). This amino acid is an inhibitory neurotransmitter of the brain, which prevents misfiring of neurons and maintains muscle movement. With antibodies against GABA, the first symptoms observed in patients occur in the form of leg stiffness. This stiffness carries upwards and reaches the spinal cord, causing spasms. A person suffering from this condition has difficulty bending, which is referred to as Tin-Man syndrome. Another unique symptom observed in these patients is that they are sensitive to noise triggers. A loud noise in any form — music, loud banging, honking — results in the triggering of spasms in all the affected muscles.

This disease has been misdiagnosed because it falls under numerous other disorders called GABA disorders, the most common being neuropathy and myelopathy. This misdiagnosis results in delaying or even wrong treatment. Numerous studies are underway to distinguish this condition from other diseases and are focusing solely on its physical symptoms. Unfortunately, there is no cure, and symptomatic relief is given to patients via benzodiazepines, baclofen, and other GABAergic agents. This enhances GABAergic neurotransmission, relieving muscle stiffness and spasms. Other treatment plans involve immunomodulatory treatments (e.g., IVIg, plasmapheresis, rituximab) aimed at modifying the underlying autoimmune response.

The human body is an enigma; the cells that are supposed to protect end up hurting us the most! Such a rare autoimmune disorder caught the eyes of researchers, and improvement in diagnosis is still underway. Since the cohort size is small, patients do end up suffering because of misdiagnosis. But one should never give up hope. With the advent of gene therapy, maybe there is a brighter future for all of them.

The winter in the United States was brutal this year. With the snowstorms, chilly winds, and extreme temperatures, going outside seemed like a thing of the past! It felt like I was back in 2020 and there was a lockdown in place. Days after days of never-ending snow where even the trees struggled to survive, I noticed something growing on the walls of my balcony. What can grow when even breathing hurts? Turns out it was a type of mold! Welcome to the world of extreme adventures, where only one thing survives: Extremophiles!

Extremophiles are organisms that can live in extreme climatic conditions and are termed as follows:

Type	Condition	Examples
Thermophiles	High temperatures	Thermus aquaticus, Pyrococcus furiosus
Psychrophiles	Low temperatures	Moraxella sp., Flavobacterium sp.
Halophiles	High salinity (2–6M NaCl)	Halobacterium, Haloferax
Acidophiles	Low pH (<3)	Penicillium sp., Sulfolobus solfataricus
Alkaliphiles	High pH (>9)	Alkalibacillus sp.
Radiophiles	High radiation	Porphyra rosengurttii, Deinococcus radiodurans

Extremophiles are very smart and are able to thrive in extreme conditions because of modified cell membranes, strong DNA repair mechanisms, and very stable enzymes, which help them withstand high pressure, high temperature, and high salt concentration.

In thermophiles, it has been observed that there are an abundance of tyrosine, glutamate, and leucine, which favors ionic interactions, rigidity, and hydrophobicity. The opposite is true for psychrophiles, which are abundant in amino acids such as threonine, methionine, phenylalanine, and serine. Thermophiles also have a very robust DNA polymerase that retains its stability at high temperatures. You would have used these polymerases in your work as well: Taq polymerase (from Thermus aquaticus) and Pfu polymerase (from Pyrococcus furiosus).

Other than its uses in the laboratory, various extremophiles are being used in biotechnology industries. An ongoing study by H. Abdulsalam focuses on using radiophiles to generate microbial fuel cells, which would be operative in high-radiation conditions. This can aid in space exploration and nuclear waste management! Imagine the power of such a small creature!

Uses of extremophiles are being explored across industries, including food, biomedical, and cosmetic. Although there are multiple processing and low-yield challenges, these small creatures hold much power and will help in advancing science!