UCSF Center for Maternal-Fetal Precision Medicine
@ucsfcmfpm.bsky.social
Using advanced technology, we discover genes that drive fetal anomalies & develop fetal molecular therapies to treat serious genetic diseases before birth.
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
May 27, 2025 at 6:48 PM
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
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
May 21, 2025 at 10:06 PM
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
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
May 20, 2025 at 7:42 PM
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
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
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.
bit.ly
May 15, 2025 at 12:27 PM
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
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
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.
bit.ly
May 14, 2025 at 6:12 PM
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
Reposted by UCSF Center for Maternal-Fetal Precision Medicine
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
May 14, 2025 at 1:44 PM
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
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.
May 2, 2025 at 2:09 PM
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.
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...
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.
www.nbcbayarea.com
April 15, 2025 at 2:53 PM
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...
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
March 19, 2025 at 4:50 PM
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
Reposted by UCSF Center for Maternal-Fetal Precision Medicine
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.
March 3, 2025 at 7:22 PM
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.
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
February 28, 2025 at 1:18 PM
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
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
pearltrial.ucsf.edu
February 4, 2025 at 3:16 PM
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
pearltrial.ucsf.edu
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
January 31, 2025 at 8:16 PM
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
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)
January 17, 2025 at 10:19 PM
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)
Reposted by UCSF Center for Maternal-Fetal Precision Medicine
Excited to see additional @ucsanfrancisco.bsky.social groups adding their voice to #Bluesky. A quick starter pack here. go.bsky.app/51oeVdV
December 17, 2024 at 1:14 AM
Excited to see additional @ucsanfrancisco.bsky.social groups adding their voice to #Bluesky. A quick starter pack here. go.bsky.app/51oeVdV