GeneInfo english

11/09/2025

If the child is diagnosed with F83 or F84, the best solution is a suitable DNA test.

24/02/2025

15/02/2025

If you are treating cancer, especially if it is an advanced form, it is good to use the following supplements:
- Amino acid Arginine
- S-Adenosyl methionine and
- Vitamin D.

15/12/2024

NEW AND UNIQUE – FOR DOCTORS AND PATIENTS!
How to improve the treatment of complex chronic conditions?

Personalized medicine as the key to better outcomes
1. Advances in molecular medicine:
The latest developments in molecular medicine allow for more accurate diagnostics, leading to targeted and more effective therapeutic approaches with improved outcomes for patients.
2. Personalized approach:
The best results are achieved by thoroughly assessing each patient as a unique case. For this purpose, multiomics tests have been developed to enable personalized treatment and therapies.
3. Challenges of a new field:
Although promising, this field brings many questions and uncertainties for both doctors and patients. Education and timely support are therefore essential for informed decision-making.

Free consultations for doctors and patients
To simplify the understanding of the significance and benefits of molecular testing, we offer free consultations.
Through these consultations, we provide:
• An evaluation of the importance of testing for a specific condition;
• Recommendations for appropriate tests;
• Guidelines and instructions for the optimal therapeutic approach based on test results.

How do consultations work?
Step 1:
With the patient’s consent (or on their initiative), send the existing clinical documentation with a brief description of the condition to the official email address:
📧 geneinfonis@gmail.com
Step 2:
After reviewing the documentation, our expert team will provide detailed feedback, including:
• What can be done in the specific case through molecular medicine;
• How personalized therapy can improve treatment outcomes.

25/10/2024

Live long and treat health conditions based on your DNA!

21/10/2024

Each of us is born with a certain number of harmful genes. Early detection of harmful genes enables the selection of the best decisions and solutions at critical moments of life, and in case the disease appears, it allows the selection of the best therapeutic approach at the earliest stage of disease onset.

30/09/2024

AMYOTROPHIC LATERAL SCLEROSIS (ALS)

Amyotrophic lateral sclerosis (ALS), also known as Charcot's disease or Lou Gehrig's disease, belongs to the group of neurological diseases of the central nervous system. It is a neurodegenerative disease that affects the upper and lower motor neurons. The condition arises due to the destruction of motor neurons.

The initial symptoms can vary. In the beginning, there may be muscle weakness, twitching, or cramping, and as the disease progresses, it gradually impairs walking, speech, swallowing, and eventually breathing. The disease most commonly appears between the ages of 45 and 55, although exceptions exist.

DIAGNOSIS: The diagnosis is based on clinical presentation, electrophysiological testing, and histological examinations. A precise diagnosis, including determining the ALS subtype, is made through genetic testing.

PRECISE DIAGNOSIS: ALS can manifest as either a familial (inherited) form or a sporadic form.

The familial form occurs when two or more family members are affected by ALS. This type has a clear genetic basis and typically appears earlier in life, accounting for approximately 10% of cases.

The sporadic form also has a genetic basis, but it is usually caused by new gene mutations or genes that were previously “hidden” (low expression). It generally appears later in life and represents about 90% of cases.

RECOMMENDATION: Use all available diagnostic resources to establish as precise a diagnosis as possible, including identifying the specific ALS subtype. This involves clinical evaluations and genetic testing (genetic counselling, family history, and finally, genetic testing). Today, gene panels (groups of suspect genes) are commonly used for ALS. The most commonly implicated genes are C9orf72, SOD1, TARDBP, FUS, as well as genes involved in protein sorting and recycling (UBQLN2, UBQLN4). Typically, a panel of 20 to 50 genes is tested.

This enables the most accurate treatment plan, prognosis, and risk assessment.

28/09/2024

Cancer - Personalized Approach

Cancer is a complex, multifactorial disease that requires the alignment of many factors. This process involves genes with various functions, signalling molecules, chromatin stabilizers, repair mechanisms, the extracellular matrix, and the immune system.

When cancer occurs early in life, it is most likely caused by a mutation in a gene with a critical function or a chromosomal break.

Genetic profiling and identifying altered genes are essential for selecting the optimal therapeutic approach.

Pathohistological findings, genetic profiling assisted by artificial intelligence, and the integrated knowledge that connects all these factors represent the best approach to diagnosing and creating a therapeutic plan for each patient. Every case is unique and requires a personalized approach.

25/09/2024

Researchers from the Icahn School of Medicine at Mount Sinai used a multi-omic analysis to explore late-onset Alzheimer’s disease.
They found that the ATP6V1A gene, crucial for brain signalling, is under-expressed in many Alzheimer's cases. This gene's low activity contributes to neurodegenerative symptoms.
In a lab study using cell lines and a Drosophila model, researchers validated the link between reduced ATP6V1A and Alzheimer's symptoms, especially when combined with amyloid and tau protein buildups. They identified a drug compound, NCH-51, that could boost ATP6V1A expression, offering potential neuroprotective benefits and therapeutic prospects for Alzheimer's and related diseases.
Link to the original article:
https://www.clinicalomics.com/topics/patient-care/neurological-disorders/multi-omic-analysis-reveals-possible-treatment-for-late-onset-alzheimers-disease/

22/09/2024

SMOKING AND CANCER

"My grandfather smoked and lived past 90, while my grandmother, who never smoked, got lung cancer at 60 and passed away. "

This is a common justification used by smokers. However, the reality is a bit different:

1. To***co smoke contains substances that increase the number of mutations in DNA, significantly raising the risk of developing lung and respiratory tract cancer. So, smoking directly increases the likelihood of these diseases.
2. Genetics play a key role. Some people have a "strong" repair mechanism—a process that quickly fixes damaged DNA. These individuals can smoke and still live a long life because their bodies effectively repair the damage caused by smoking. On the other hand, some people have a "weak" repair mechanism. For them, mutations are corrected more slowly, and even passive smoking can be enough to trigger the onset of cancer.
3. Unfortunately, in practice, whether someone has a "strong" or "weak" repair mechanism is often discovered only after lung or respiratory tract cancer has been diagnosed—by then, it's too late.

Today, it is possible to determine genetic risk and identify the responsible genes. However, the best prevention in fighting these diseases is simple: don’t smoke.