Gene

Now, some sections of DNA are called genes.

Have you ever heard of that word, genes? Not like blue jeans, not like the jeans you wear, but jeans, G-E-N-E-S.

We're talking about lots of letters today, aren't we? Let's talk about jeans now, G-E-N-E-S.

See, many jeans give your cells instructions for making something called proteins.

Proteins help build parts of your body and do all kinds of important jobs inside your cells.

En LinkedIn me pueden encontrar, en Facebook me pueden encontrar, en Instagram, también estoy en Blue Sky.

En Instagram tengo una cuenta que es la personal y tengo una cuenta que se llama Global Gene, como Global Gene, con una doble hélice verde.

Tenemos ahí ya casi veintidós mil seguidores.

Todo se hace en español y estos veintidós mil seguidores son gente de toda América Latina interesada en la genómica.

No son solamente, pues obviamente no son científicos, es gente como tú, como, bueno, que no está exactamente en el mundo de la ciencia o pacientes, muchos, o personas del público en general de nuestra sociedad que están interesadas, curiosas y quieren aprender.

Y hacemos videítos cortos sobre genómica en salud, en otras áreas.

Entonces, en Instagram, en Global Gene también me pueden encontrar, ver videos si están interesados en aprender más sobre la genómica.

Nos pueden seguir ahí en, en Global Gene.

And that being the same kind of on or off...

What am I thinking of? Gene.

Gene.

Yeah.

In honor of gene, the same as like the cilantro tasting like soap.

Years ago, we had a philosopher of biology on the program who was questioning genes in the way you are, saying that this is a model that we have.

Gene is a model, right? Just like there's the Bohr model of the atom, the gene is a model.

But there are very specific genes that code for very specific proteins that we have discovered.

Absolutely.

You know? Judging by the content of their character, not the content of their genes.

And I don't mean G-E-N-E-S.

I mean J-E-A-N-S.

So it's just...

Today's story is about a gene that does that editing, and about how each child's version broke in its own way.

Today, we celebrate the work of Jasmine Lisveld, Kirsten Kutscha, Friederike Harms, and colleagues from the University Medical Center Hamburg-Eppendorf, Baylor College of Medicine, GeneDx, and partner centers in Israel, Norway, France, the Netherlands, and the United States, who have advanced our understanding of how splicing factors shape human development.

Their paper, De Novo Variants in the Essential Splicing Factor Gene SRSF3 Cause Variable Developmental Phenotypes, was published in the American Journal of Human Genetics in December 2026.

Let's start with splicing.

Most of our genes are written in pieces.

In our film picture, one editor has injured hands, another has lost its pass, and a third clings to the courier and will not let go.

What does this mean? The authors present SRSF3 as a new spliceosomopathy, a disorder of the splicing machinery, with a broad spectrum of features and developmental delay or intellectual disability as the most consistent ones.

Using the American College of Medical Genetics and Genomics guidelines, they preliminarily classified five of the six variants as likely pathogenic or pathogenic, and the frameshift in subject three as a variant of uncertain significance.

[laughs]

And, and I mean G-E-N-E-S, the right genetic makeup.

You have to be of that tribe and of that lineage.

So you have to have Levitical genes.

We are all S-I-N positive.

We're born that way.

It's part of our genetic makeup.

We were born fallen because of what Adam has done.

"For God so loved the world that he gave his only begotten Son." The word begotten is the word monogenus or monogenus.

It's spelled like, phonetically, mono, M-O-N-O, monogenes, G-E-N-E-S, monogenes, but it's pronounced in Greek as monogenus.

So the monogene means the super gene or singular gene or unique gene or unlike any other gene.

"For God so loved the world that he gave his only unique gene." And he placed it inside of a woman, and it terminated.

A new study brings much of this information together in a manually curated genetic and clinical resource.

A research paper published in Volume eighteen of Aging titled "A Manually Curated Gene Phenotype Catalog for Progeroid Syndromes and Premature Aging," developed an integrated catalog linking genes, premature aging syndromes, syndrome subtypes, and major clinical features.

The study was conducted by first author Nusa Likar and corresponding author Tanja Coné from the Biotechnical Faculty, University of Ljubljana, Slovenia.

Why progeroid syndromes matter for aging research.

The clinical categories covered a wide range of systems, including growth, cardiovascular, skeletal, neurological, endocrine, respiratory, genitourinary, metabolic, hematological, immune, and cancer-related features, as well as abnormalities affecting the skin, hair, muscles, head and neck, and other body regions.

The catalog was not simply assembled automatically.

The researchers manually standardized gene names according to Hugo Gene Nomenclature Committee, HGNC, guidelines while retaining older or alternative symbols to make earlier literature traceable.

Syndrome and subtype classification was primarily based on OMIM.