Silvana Pereyra

PhD in Biology. Human genetics, complex diseases. Assistant professor at @GeneticaFmed 🇺🇾
@fmed_divulga @SocUruguayaGen @PedecibaB
@spereyra.bsky.social

[Histología y Embriología Fmed @histoemb]

Curso teórico-práctico:
“Aspectos celulares y moleculares de la Reproducción. Nuevas Perspectivas en Fertilidad.”

19-29 Mayo de 2026
Facultad de Medicina

https://t.co/aTQIpfZrYR

[Silvana Pereyra @splepre]

Maravillas de la investigación

[Veera Rajagopal  @doctorveera]

A monumental moment in medical history: the first gene therapy for genetic hearing loss is now FDA approved. As a former Regeneron scientist, I feel very proud. I had the opportunity to hear about this programme while it was still in development. It’s one of the few programmes that, every time you came across it, you felt the medical breakthrough in your bones and privileged just to be there while it was happening.

At this moment, it’s important that we look 30 years back when researchers mapped a locus on chromosome 2 to congenital deafness in a Lebanese family (https://t.co/o8ltjHyLNy). They named it DFNB6 (later DFNB9) with no clue about the responsible gene. Three years later, the causal gene came to light: OTOF, encoding a protein called otoferlin (https://t.co/tBGlFPzaQd). Seven years after that, in 2006, pioneering work by Christine Petit revealed that otoferlin is a calcium sensor in the inner hair cell membrane, acting as a molecular trigger that converts sound into electric signals that the brain can read (https://t.co/oxXtifPrTZ). Twenty years fast forward, we now have a successful treatment. Thirty years from discovery to medicine.

OTOF-related deafness is congenital, caused by complete deficiency of otoferlin. In these children, the cochlea is structurally intact, hair cells are there, the mechanics of sound transmission work. It’s just that final step, where hair cells hand off the signal to the auditory nerve through neurotransmitter release, that doesn’t happen. Sound arrives and dies at the synapse. It’s deafness due to a defect in the synapse caused by the absence of a single protein, which is what made this a beautiful, clean target for gene therapy.

The treatment itself is a feat of molecular engineering. OTOF is too large to fit in a single AAV capsid. The team solved this elegantly by delivering the gene in two halves separately, which then get spliced to produce the full functional protein. A single surgical injection into the cochlea, a molecular miracle unfolds. Results from the CHORD trial were striking: of 20 evaluable patients, including children as young as 10 months, 80% showed meaningful hearing improvement, and by 48 weeks, 42% had achieved normal hearing including the ability to hear whispers. Otarmeni is not only the first gene therapy for deafness, it’s also the first dual-AAV therapy to be approved by the FDA.

There are very few things in medicine that come close to giving back a sense like vision, hearing, or touch that a human never had from birth. It’s almost God’s work. A parent witnessing their child who was born deaf hearing their voice for the first time, it’s a joy that no words can describe. Multiply that by the fact that it came from a single injection, a repaired gene, and 30 years of science. We are truly in the golden era of medicine.

Regeneron press release:
https://t.co/6zvdsT2uzI

Below video is from the NEJM publication of CHORD trial (Valayannopoulos et al. NEJM 2025)
https://t.co/YvIqwQ0SDu

[Silvana Pereyra @splepre]

@ernestomiquel 😱

[Silvana Pereyra @splepre]

Ahi estaremos dictando un taller sobre cómo analizar variantes genéticas humanas, junto a @MonicaCappetta

Inscripciones abiertas hasta el 4/feb aquí https://t.co/mXz0jq9YnO

@GeneticaFmed

[Ceibal @Ceibal_Uy]

Conocé la agenda de Campus del Sur y las propuestas de formación vinculadas a las diferentes áreas temáticas.

Un espacio de formación con talleres y conferencias con especialistas nacionales e internacionales.

📅 ¡Te esperamos del 10 al 12 de febrero! https://t.co/a4lLhaSYQp

[Mónica Cappetta @MonicaCappetta]

Así se vivió #MedicinaInvestiga en el stand de @GeneticaFmed!
Extracción de ADN, cromosomas, origami, electroforesis y mucho más!!

[Silvana Pereyra @splepre]

Hoy es el día mundial de la prematurez. A seguir trabajando para prevenir esta patología

[Mónica Cappetta @MonicaCappetta]

No hay nada mejor que monitorear los resultados de secuenciación en tiempo real!!
Analizando un panel de 90 genes mediante Adaptative sampling en MinION de @nanopore en muestras de Leucemia Mieloide Aguda.
Desde @GeneticaFmed buscamos implementar desarrollos costo-efectivos 💪🏻

[Silvana Pereyra @splepre]

Se viene! Te esperamos este viernes en @GeneticaFmed @fmedoficial

[Universidad de la República @Udelaruy]

¡Este viernes, vuelve #MedicinaInvestiga! 👩‍🔬

🙌 Vení a conocer esta feria de ciencias con stands, charlas y actividades que buscan acercar la investigación a toda la comunidad.

📅 31 de octubre
🕙 10 a 17h
📍 @fmedoficial
🎟️ Entrada libre y gratuita

[Silvana Pereyra @splepre]

Excited to share our new paper! Proud to contribute to the wonderful and expanding single-cell transcriptomics community in LATAM — and to this fantastic team who made it possible! 🙌
@GeneticaFmed

[Cell @CellCellPress]

Featuring a Commentary with a Latin American focus on transcriptomics. The regions’s genetic diversity, environment, and endemic infectious diseases offer opportunities to deploy these technologies for societal and scientific impact. https://t.co/1NJTivC0vJ

[Silvana Pereyra @splepre]

Un placer escuchar esta mesa, compartiendo miradas sobre este tema tan fascinante:
La Mesa de Científicos: ¿Qué es la divulgación científica y por qué es tan importante? https://t.co/KNsqtA03KG
Grandes todos los panelistas 💪@BTassino

[Mónica Cappetta @MonicaCappetta]

Look our last paper: the first study in #LatinAmerica that describes gene promoter methylation in Severe Preterm Birth using @nanopore technology!! 🧬🧬
https://t.co/eEiGJzf7m3

[PEDECIBA @PEDECIBA]

💡 ¿Puede la epigenética ayudar a entender el parto prematuro?

La #InvestigadoraPEDECIBA Silvana Pereyra estudia la metilación del ADN en recién nacidos para identificar factores genéticos vinculados a este fenómeno.

6° capítulo de la serie #DespegueCientífico

#CienciaUy

[Unidad Académica de Genética @GeneticaFmed]

🟥 ATENTOS 🟥

Convocatoria a estudiante para tesis de posgrado en Bioinformática o Ciencias Biológicas (PEDECIBA).

Más información a continuación:

[Wellcome Connecting Science Learning and Training @eventsWCS]

Apply for a free place on our #HelminthBio25 course, in Uruguay! 🇺🇾

⏰Deadline: 18 February 2025

Join experts from #LatAm for an introduction into accessing, analysing and presenting large-scale #genomics data, relevant to #helminth studies 🐛

📎 Info: https://t.co/a9QTorWpRv

[Mónica Cappetta @MonicaCappetta]

En el Laboratorio de Epidemiología Genética de @GeneticaFmed, la Dra. Silvana Pereyra viene estudiando marcadores genéticos, epigenéticos y de ARN en parto prematuro severo! Aportando su granito de arena para intentar disminuir esta patología en nuestro país!

[Universidad de la República @Udelaruy]

👩‍🔬 ¡Se viene Medicina Investiga, la feria de Ciencias de @fmedoficial!

🙌 Vení a conocer los trabajos de más de 80 investigadores e investigadoras en los stands, actividades, charlas y audiovisuales.

🗓️15/11
⏰10 a 17h
📍@fmedoficial y cercanías

➕info: https://t.co/JfQj0eyJnC

[Silvana Pereyra @splepre]

Nos reencontramos en Montevideo! #ALAG2026 @GeneticaFmed

[SUG (Soc. Uruguaya de Genetica) @SocUruguayaGen]

Tenemos buenas noticias para todos nuestros socios y amigos de américa latina, ¡el próximo #ALAG2026 será en Montevideo! Para que vayan calentando motores les dejamos el video de nuestra postulación a @alagenetica y esperamos verlos a todos en 🇺🇾

[Ricardo Chinchilla-Monge @RicardoChM06]

Gran honor el de presentar un trabajo colaborativo en #SingleCell de los participantes del #SingleCellRio23 en el Simposio de #SingleCellRio24. Otra demostración de la posibilidad de realizar trabajos colaborativos de alto calibre entre los países latinoamericanos.

[Daniela Robles @daniela-oaks.bsky.social @daniela_oaks]

And it's a wrap for #SingleCellRio2024! @BoroniMariana gives a great closing speech for this conference, with 100 participants from across Latin America and more! 🇧🇷🇲🇽🇨🇷🇺🇾🇻🇪🇦🇷🇵🇪🇨🇱🇨🇴 Thanks to all organisers for a great symposium 😀

[Mónica Cappetta @MonicaCappetta]

Algunas fotos de lo q fueron los talleres de genética ayer en la Feria de @CeibalSTEM_UY en Canelones!