NeuroGene Nile

We're excited to share that
▪︎ 𝐃𝐫. 𝐀𝐦𝐫 𝐀𝐝𝐞𝐥
Neurogenetics Research Assistant
▪︎ 𝐃𝐫 𝐌𝐨𝐡𝐚𝐦𝐞𝐝 𝐆𝐚𝐦𝐚𝐥
Medical Genetics Assistant Lecturer- Faculty of Medicine

The founders of Neurogenetics Nile (NGN), will be joining OmicX Labs as an instructors for the upcoming workshop:

🧠 Neurogenetics: Bridging the Gap – From DNA to Symptoms

This workshop will explore the connection between genetics, molecular mechanisms, neuroanatomy, and clinical manifestations, providing practical insights into genetic variant interpretation and their relevance to neurological disorders.

At NGN, we're passionate about advancing neurogenetics education and awareness, and we're delighted to see initiatives that help bridge the gap between research and clinical practice.

We look forward to seeing you there and hope you'll join us for an engaging and insightful session.

📅 June 24, 2026
⏰ 7:00 PM
💻 Online

🚨 Not every neurological disorder starts in the brain...
Sometimes, it starts in the DNA.
بس السؤال الحقيقي:
How does a tiny change in a gene
lead to major changes in brain function? 🧠
━━━━━━━━━━━━━━━
لو دا سؤال شد انتباهك،
يبقى لازم تتعرف على عالم الـ NeuroGenetics.
مجال بيجمع بين:
🧬 Genetics
🧠 Neuroscience
⚕️ Clinical Applications
عشان يفسر الرحلة الكاملة:
From Variant ➜ Cell ➜ Brain ➜ Symptoms
━━━━━━━━━━━━━━━
🎙 Learn from experts:
Dr. Amr Adel
Neurogenetics Research Assistant
MSc of Neuroscience - Alexandria University
Dr. Mohamed Gamal
Medical Genetics Assistant Lecturer
Faculty of Medicine

وفي نهاية الورشة هتكون قادر تفهم:
✅ How genetic variants impact neural pathways
✅ Basics of neuroanatomy for geneticists
✅ Practical variant interpretation
✅ Real clinical connections

📅 24 June 2026
🕗 7 PM
💻 Online
🎟 Free Registration

To regist through form : https://lnkd.in/dN_nTUHY

To know more details about workshops or further events follow us on WhatsApp channel: https://lnkd.in/e3mUjkBs

Because understanding the mutation is important...
but understanding its effect is what really matters.

From Molecular to Clinical aspect of Rhizomelic Chondrodysplasia Punctata (RCDP)🧬🧠

Meet Rayan
At two months old, his brain began to misfire: subtle seizures, floppy muscles, and an MRI that revealed fragile, damaged white matter.

The cause wasn’t a large deletion or a dramatic mutation. It was hiding inside a slippery, seven‑letter stutter in his DNA!

In the PEX7 gene, there’s a short word: TGCGGTG
If you look at healthy genomes (check ensembl), you’ll see that word repeated twice, it's a normal genetic stutter in this gene. Almost all of us have it.
But Liam inherited an allele where the stutter kept going, not twice but three times: TGCGGTG TGCGGTG TGCGGTG

That third copy threw the entire gene out of frame.
The PEX7 protein which is a critical import receptor for peroxisomes was truncated almost immediately (p.Ala7GlyfsTer42).
No functional PEX7 means nothing gets into the peroxisome, which subsequently leading to:

The Left Path (Anabolism): The enzymes DHAPAT and AGPS fail to enter the peroxisome. These enzymes catalyze ether lipid synthesis. Their absence causes a profound plasmalogen deficiency. Because plasmalogens are major structural phospholipids in myelin sheaths, this deficiency leads directly to defective myelination.

The Right Path (Catabolism): The enzyme Phytanoyl-CoA hydroxylase (PHYH) is denied entry into the peroxisome. PHYH is required for the alpha oxidation of branched-chain fatty acids, this blockade causes an upstream accumulation of phytanic acid, which is highly cytotoxic to neurons and nervous tissue.

This all explains the white matter changes in the brain and severe developmental delay in RCDP1 patients, merging the genotypic and phenotypic data.

🧬🇪🇬 Canavan Disease Egyptian Case: A 3‑Year Diagnostic Journey.

A 4.5-year-old girl presented to our unit with macrocephaly, global hypotonia, head lag, spastic tetraparesis, and seizures. She had been diagnosed with cerebral palsy since age 1, with no genetic workup.
We listened to the history carefully from the parents: “she was fine at birth. At three months, she stopped following me with his eyes. Her head grew too fast, she couldn’t hold his neck. Currently, she can’t sit or speak.”

We knew immediately this was not cerebral palsy!
This was a classic leukodystrophy and the macrocephaly, hypotonia, and head lag pointed toward one specific diagnosis (Canavan disease)

📊Molecular Diagnosis (ASPA gene): revealed that a homozygous c.91G>T (p.Val31Phe) in exon 1 of ASPA gene – a pathogenic variant first reported in an Egyptian patient by Zaki et al. (2015). Parents are carriers and two older siblings died undiagnosed.

(A) Macrocephaly, frontal bossing, hypotonic posture.
(B) MRI: diffuse white matter high signal + globus pallidus involvement.
(C) MRS: striking NAA elevation (NAA/Cr >4).
(D) Sequencing analysis shows a homozygous G >T substitution at position 91 of the ASPA gene of the patient (case), indicated with an arrow, compared to a healthy control.
(E, F) ASPA Protein structural analysis showing the significant difference between valine and phenylalanine, respectively, in the context of chemical class and size (replacing valine with bulky side chain of Phe causes local distortion or steric clash). Additionally, the location of the helix is near critical residues (His21, Glu24) involved in zinc binding, so that a mutation near this region may abolish enzymatic activity.

In neurogenetics, not every DNA change causes disease!

📌 The ACMG/AMP (American College of Medical Genetics and Genomics and the Association for Molecular Pathology) guidelines standardise how we classify genetic variants.

Variants are interpreted following the ACMG five‑tier classification system:

🔴 Pathogenic (The variant is conclusively disease‑causing based on robust evidence)
🟠 Likely Pathogenic (Strong evidence supports a disease‑causing role, but the evidence is not yet sufficient to reach definitive pathogenic status)
🟡 Variant of Uncertain Significance VUS (Insufficient or conflicting evidence to determine whether the variant is benign or pathogenic)
🟢 Likely Benign (Strong evidence suggests the variant does not cause disease, but not enough to be conclusive)
🔵 Benign (Conclusive evidence that the variant has no effect on disease)

🧬Duchenne Muscular Dystrophy (DMD) is a severe X-linked recessive neuromuscular disorder. In Egypt, it is reported to be among the highest globally, estimated at 7.7 per 100,000 population!

One gene, one diagnosis, one chance for early intervention.

ضمور العضلات الدوشيني هو مرض وراثي بيأثر على الأعصاب والعضلات، متنحي ومرتبط بالكروموسوم اكس ، في مصر معدلاته من أعلى المعدلات عالميًا،
!حوالي 7.7 حالة لكل 100,000 نسمة

70% globally, 31% in Egyptian children, 35% consanguinity. The numbers speak for themselves!

Arabic in the first comment

Dear colleagues, researchers, and physicians,

We are excited to launch NeuroGene Nile (NGN) – the first Egyptian educational platform dedicated to neurogenetics and neurodevelopmental disorders, seen through the lens of our own patients, our own genes, and our own clinical reality.

Who We Are!

Our team consists of Egyptian physicians specializing in medical genetics and biotechnologists specializing in molecular genetics, united by a common background in neuroscience at the postgraduate level.

We aim to:

1- Post challenging cases from our unit, covering clinical presentation alongside genetic findings.
2- Build the first comprehensive Egyptian reference for neurogenetic and neurodevelopmental disorders.
3- We will organize online courses, workshops, and panel discussions – bringing together geneticists, neurologists, pediatricians.

🧠The Rationale behind creating this platform is that in Egypt, neurodevelopmental disorders are frequently encountered in daily practice. However, a critical gap exists between clinicians (neurologists, pediatricians, psychiatrists) who evaluate patients and molecular geneticists who interpret the genomic data.

💡We created NeuroGene Nile (NGN) to serve as the bridge. We speak both languages – clinical and molecular. Through cases, educational courses, and panel discussions.

So that NGN is the platform where clinicians and molecular geneticists speak the same language, for every Egyptian child with a neurodevelopmental disorder 🧠