Hena Jose

Through Christ, God reveals that his mercy is greater than our individual sins and even than those of the entire world. ascensionpress.com/blogs/articles…

Pope Leo XIV has released his prayer intention for April, inviting Catholics around the world to pray for priests facing moments of crisis in their vocation: In the name of the Father, and of the Son, and of the Holy Spirit. Amén. Lord Jesus, Good Shepherd and companion on the journey, today we place in your hands all priests, especially those going through moments of crisis, when loneliness weighs heavily, when doubt clouds their hearts, and when exhaustion seems stronger than hope. You who know their struggles and wounds, renew in them the certainty of your unconditional love. Let them feel they are not mere functionaries or lonely heroes, but beloved sons, humble and cherished disciples, and pastors sustained by the prayer of their people. Good Father, teach us as a community to care for our priests: to listen without judging, to give thanks without demanding perfection, to share with them the baptismal mission of proclaiming the Kingdom in word and deed, and to accompany them with closeness and sincere prayer. May we support those who so often support us. Holy Spirit, rekindle in our priests the joy of the Gospel. Grant them healthy friendships, networks of fraternal support, a sense of humor when things don’t go as expected, and the grace to always rediscover the beauty of their vocation. May they never lose trust in You, nor the joy of serving your Church with a humble and generous heart. Amen.

📢 Our April issue is live! go.nature.com/4cVoreb Reviews include: proteoform medicine; statistical methods to identify pleiotropy; the molecular evolution of parenting and sociality; how to monitor the biological effects of genome editing across scales

Good advice for lent

@NikoMcCarty I hope this helps...

"We need to treat every person with the notion of what their individual biology is." Serge Saxonov, cofounder and CEO at 10x Genomics, spoke about current developments in biology at the #ForbesHealth Summit. forbes.com/sites/rachelpe…

Now UK Biobank offers Nightingale metabolomics (250 metabolites) for the whole cohort (N=500,000), including 20,000 repeat measurements. Looking back in a few years, I think UKB will stand out as the initiative that taught us the importance of scale for biological discoveries.

Enjoyed reading the recent paper from gnomAD team on the modifiers of penetrance of clinically-relevant variants in 800k individuals in the gnomAD database. One example highlighted in the paper is extremely fascinating! It's a beautiful example of a loss of function (LOF) variant converting a pathogenic gain of function (GOF) into a benign variant. GJB2 encodes connexin 26, a gap junction protein that helps with cell-to-cell communication. This protein is highly expressed in cochlea, skin, cornea, among others. GJB2 is a well known hearing loss gene. Complete deficiency of GJB2 caused by homozygous LOF mutations causes autosomal recessive, non-syndromic hearing loss. There is also a rare syndrome called KID syndrome (Keratitis, Ichthyosis, deafness) caused by GJB2 mutations. This is a autosomal dominant condition caused by rare, heterozygous gain of function mutations (mostly de novo). In the gnomAD database, the authors found around 4000 pathogenic or likely pathogenic ClinVar variants in ~31k individuals. The authors investigated why these pathogenic variants are seen in the healthy individuals, looking specifically for disease modifying variants. One of the ClinVar pathogenic variants observed in 35 gnomAD individuals was a rare GOF missense variant p.Gly45Glu in GJB2, previously reported to cause KID syndrome. On a closer look, the authors found that almost all (34 out of 35) carried a protein-truncating LOF (p.Tyr136Ter) in cis, i.e., on the same chromosome as the GOF variant. What happened is the LOF truncated the last part of the GJB2 protein that forms 4th transmembrane domain, which is critical for the mature protein to oligomerize with other GJB2 proteins to form the ion channel. In the absence of LOF, the missense GOF exerts a toxic dominant negative effect on the oligomerized proteins resulting in KID syndrome. But in the presence of LOF, the GOF-carrying GJB2 truncated protein doesn't participate in oligomerization and so, doesn't become toxic. It turns out, all the 34 individuals carrying both the variants in cis are of East Asian ancestry and based on a previous report, this haplotype is seen in nearly 11,000 individuals in Japan. Reading this paper took me to another paper published in 2014 by Japanese researchers, where they report an extreme case of a mother with this haplotype giving birth a child with only the GOF variant resulting in KID syndrome. The authors describe this as a reversion event where the "safety lock" (i.e. the protective LOF) is removed from the "Pandora's box" (i.e. the haplotype) unleashing the lethal GOF to express. It seems due to a rare gene conversion event in the maternal meiosis, the LOF was kicked out from the chromosome that child got from the mother, leaving behind only the GOF to cause disease. Absolutely wild! References: Gudmundsson et al. Nat Comm 2025 nature.com/articles/s4146… Ogawa et al. PLoS Genet 2014 journals.plos.org/plosgenetics/a…

Towards genome editing for mitochondrial diseases nature.com/articles/d4158…

BREAKING NEWS The 2025 #NobelPrize in Physiology or Medicine has been awarded to Mary E. Brunkow, Fred Ramsdell and Shimon Sakaguchi “for their discoveries concerning peripheral immune tolerance.”

Seat of Wisdom, pray for us.

@TempusFugit4016 Oh what a beautiful writing on Mama Mary being Immaculate. When angel Gabriel calls Mary "full of grace" (kecharitomene), suggesting a unique, permanent state of divine favor that implies freedom from original sin, the only one in the Bible to be addressed that way by heaven

"The privilege of the Immaculate Conception and the fullness of grace did not withdraw Mary from pain, but rather made her all the more sensitive to suffer from contact with sin, the greatest of evils. Precisely because she was so pure, precisely because her heart was consumed by the love of God, Mary suffered pains to which our imperfection makes us insensible. We suffer if our self-love is wounded, or our pride, or our susceptibilities. Mary, however, suffered from sin, and that in the measure of her love of God Whom sin offends, and her love of Her Son Whom sin crucifies; she suffered in the measure of her love of us, whom sin wounds and kills. Thus the Immaculate Conception increased Mary's sufferings and disposed her to bear them heroically. Not one of them did she squander. All passed through her hands in union with those of her Son, thus to be offered up for our salvation." - Fr. Reginald Garrigou-Lagrange

@Totvs_tuus51320 This image is so powerful. Jesus who suffered for me and Jesus, King of Universe.

Blessed be Jesus Christ, true God and true man. Blessed be the name of Jesus. Blessed be his most Sacred Heart. Blessed be his most Precious Blood. Blessed be Jesus in the most Holy Sacrament of the Altar.

ICYMI: Why are eight #HealthyBabies causing such a stir in the world of #GenomicMedicine and #RareDisease? Find out in this week’s blog: ow.ly/feCu50WJHyC

When traditional sequencing ran out of answers, Gulsuner and AbuRayyan turned to Oxford Nanopore sequencing to uncover hidden deep intronic variants driving cancer. Learn more: nanoporetech.com/resource-centr…

New online! Tracing the evolution of sequencing into the era of genomic medicine bit.ly/45lEYUB

@thattradgal Mother of Divine Mercy, Thodupuzha, Kerala, India dioceseofkothamangalam.org/shrine-of-divi…

If you could have only one piece of artwork of Mary in your home, which would you choose? (Post a picture if you can! 😍)

@Calangel89 @thattradgal God bless

@thattradgal I have this one in my home. I cross stitched with over 60,000 stitches that I prayed a prayer on each stitch.

@Sachinettiyil God bless you and keep you and help you with digital evangelization. Mother Mary protect you in this mission

Requesting a Hail Mary as I celebrate my birthday today—glory be to Jesus for blessing me with another year of life 🙂

Nearly half of dementia cases could be prevented or delayed by tackling 14 risk factors starting in childhood, including two new risks—high cholesterol and vision loss, suggests report from the Lancet Commission on dementia. On #WorldBrainDay, explore the report ➡️ hubs.li/Q03y9GZR0