UCSF Center for Maternal-Fetal Precision Medicine

Genetic diseases underlying a spectrum of fetal effusions. Gulrajani NB, Lianoglou BR, Tick K, Sahin-Hodoglugil NN, Hodoglugil U, Devine P, Van Ziffle J, Norton ME, Sparks TN. Am J Obstet Gynecol. 2025 May 8:S0002-9378(25)00304-7. doi: 10.1016/j.ajog.2025.04.072. Epub ahead of print. PMID: 40348118.

Clinical study highlights utility of exome sequencing for different types of fetal effusions and discerns patterns in how genetic diseases present in utero. @UCSF offers genome sequencing for pregnancies with 1 or more fetal effusions through ongoing research (hydrops@ucsf.edu). AJOG: bit.ly/4mulOm2

27.05.2025 18:48 — 👍 0    🔁 0    💬 0    📌 0

Seminar Announcement. Evangelia Vlachodimitropoulou, MBBS, PhD, Consultant in Maternal & Fetal Medicine, King’s College Hospital, will present: "In Utero Transfusions Beyond 35 Weeks Gestation in Alpha Thalassemia Major." This international seminar series is hosted by the UCSF Center for Maternal-Fetal Precision Medicine. It is a 'virtual' event and requires registration at: Register: tinyurl.com/ATM-Jun2025.

SEMINAR: Please join us on 6/12, 8am PDT, when Dr. Evangelia Vlachodimitropoulou from King’s College Hospital, will present “In Utero Transfusions (IUT) Beyond 35 Weeks Gestation in Alpha #Thalassemia Major” REGISTER: tinyurl.com/ATM-Jun2025

21.05.2025 22:06 — 👍 0    🔁 0    💬 0    📌 0

Microscopic cross-section of a mouse head stained with fluorescent markers, showing ASO 449323–Cy3, yellow, and nuclei stained blue in the brain; STAT News logo in the corner with “In The Lab” in the lower left

Researchers have made a breakthrough in treating spinal muscular atrophy (SMA) before birth. Their innovative approach delivers a genetic therapy into amniotic fluid, and potentially opens a door to earlier, more effective treatments. More in @statnews.com by @mmolteni.bsky.social bit.ly/STAT-SMA

20.05.2025 19:42 — 👍 2    🔁 0    💬 0    📌 0

Fetal therapy offers hope for unborn patients suffering from the rare genetic disease Hunter Syndrome Some parents-to-be have to face the terrifying news that their unborn child has been diagnosed with a life-threatening genetic disorder.

Today, May 15, we proudly observe #MPSAwarenessDay and stand in solidarity with the #MPS community. We thank our patients who participated in the prenatal ERT #PEARLTrial. Their courage and their contributions are humbling. Meet one of these inspiring families: bit.ly/3OgxCZD #MPSAwarenessDay2025

15.05.2025 12:27 — 👍 0    🔁 0    💬 0    📌 0

Intra-amniotic antisense oligonucleotide treatment improves phenotypes in preclinical models of spinal muscular atrophy Antisense oligonucleotides delivered in utero can treat mouse models of SMA and can feasibly be administered to fetal lambs at midgestation.

Intra-amniotic ASO treatment improves phenotypes in preclinical SMA models, suggesting a promising, minimally invasive prenatal approach for SMA & early-onset neurological disorders. MacKenzie lab & @ucsanfrancisco.bsky.social @ucdavis.bsky.social @hopkinsmedicine.bsky.social teams bit.ly/4jV38tL

14.05.2025 18:12 — 👍 0    🔁 0    💬 0    📌 0

Slide for AGC 28th Annual Meeting keynote lecture by Tippi C. MacKenzie, MD, titled "Prenatal Gene Therapies for Severe, Early-Onset Genetic Diseases," scheduled for May 15.

Hear how gene therapies can address serious genetic diseases before birth. Dr. Tippi MacKenzie will deliver a George Stamatoyannopoulos Memorial Lecture at the @asgct.bsky.social Annual Meeting on May 15. #ASGCT2025 #GeneTherapy #PrenatalResearch #raredisease

14.05.2025 13:44 — 👍 5    🔁 3    💬 0    📌 0

10 years and counting. These are a few of the many remarkable people who contribute to the ambitious vision of our Center co-directors, Mary Norton and Tippi MacKenzie: A world where all children are born healthy.

02.05.2025 14:09 — 👍 2    🔁 0    💬 0    📌 0

After Losing 2 Children to Rare Genetic Disease, Family Celebrates Healthy Daughter Thanks to Therapy Pioneered by UCSF Doctor In a first-of-its-kind fetal therapy, Dr. Tippi MacKenzie, a pediatric surgeon at UCSF, began treating Ayla Bashir’s Pompe disease before she was even born. Garvin Thomas reports.

April 15 is #InternationalPompeDay. We stand w/the #Pompe community & are grateful to have been able to enroll 3 #IOPD patients in our prenatal ERT #PEARLTrial. We're excited by the positive impact, as seen in the story of the first family receiving the protocol www.nbcbayarea.com/news/local/b...

15.04.2025 14:53 — 👍 1    🔁 0    💬 0    📌 0

Attending #ACMGMtg25? Learn about the latest advances and clinical findings at our poster presentations and Learning Lounge on Thursday, March 20. We hope to connect with you in LA! #PEARLTrial @theacmg.bsky.social

19.03.2025 16:50 — 👍 0    🔁 0    💬 0    📌 0

March 18-21, 2025 is #MedicalGeneticsAwareness Week! Help us celebrate by sharing your joy about working in the medical genetics field in a short video (30-45 secs) posted to social media that week. Visit bit.ly/MGVideo2025 for details.

03.03.2025 19:22 — 👍 1    🔁 1    💬 0    📌 0

Honoring #RareDiseaseDay and the strength of the #rare community. Your voices drive progress, and together, we’re working toward better treatments. #RareDiseaseAwareness #PEARLTrial pearltrial.ucsf.edu

28.02.2025 13:18 — 👍 2    🔁 0    💬 0    📌 0

Join us at #WORLDSymposium for interim results from the @ucsanfrancisco.bsky.social #PEARLTrial a first-in-human Phase 1 trial of In Utero #EnzymeReplacementTherapy for Lysosomal Disorders (PI Tippi MacKenzie). Presented by Billie Lianoglou: Thurs, Feb 6, 8:30 am #WORLDSymposia
pearltrial.ucsf.edu

04.02.2025 15:16 — 👍 2    🔁 0    💬 0    📌 0

Congratulations to Center Co-Director Dr. Mary Norton on receiving the prestigious SMFM Lifetime Achievement Award! Honoring her leadership, advocacy, research, and dedication to maternal-fetal medicine. Well deserved! #SMFM #MaternalFetalMedicine #LifetimeAchievement

31.01.2025 20:16 — 👍 5    🔁 0    💬 0    📌 0

Also on Jan 29, Center Investigator Julia Brown will speak at the Genetics Scientific Forums about equity and ethics in reproductive genetics care. Don’t miss it! Full forum: bit.ly/3PEpvpJ (3 of 3)

17.01.2025 22:19 — 👍 0    🔁 0    💬 0    📌 0

And, SMFM Postgraduate Course “First Trimester Anatomic Imaging: A Critical Time to Evaluate the Pregnancy” with Mary Norton, MD on Jan 28. Full course: bit.ly/4gRF8Gq (2 of 3)

17.01.2025 22:19 — 👍 1    🔁 0    💬 1    📌 0

Excited for #SMFM2025? Don’t miss SMFM Postgraduate Course "Maternal Fetal Precision Medicine: From Early Diagnosis to Targeted Fetal Therapy” with Teresa Sparks, Mary Norton, Tippi MacKenzie, Billie Lianoglou, and Kate Swanson on Jan 29. Full course: bit.ly/4hlfAS3 (1 of 3)

17.01.2025 22:19 — 👍 5    🔁 1    💬 1    📌 0

Excited to see additional @ucsanfrancisco.bsky.social groups adding their voice to #Bluesky. A quick starter pack here. go.bsky.app/51oeVdV

17.12.2024 01:14 — 👍 9    🔁 6    💬 0    📌 0