Diseases that predominantly affect children are too often unaddressed by the biopharmaceutical industry and government funding agencies.
"I have the utmost confidence that we can discover solutions to some of the most troubling health issues that affect children."
– Denny Sanford, Naming donor and Honorary Trustee
A world leader in providing solutions to childhood diseases
Our mission is to generate translational discoveries about such childhood diseases as diabetes, Duchenne muscular dystrophy, hypophosphatasia (bone disorders), and congenital disorders of glycosylation.
Recording
March 18, 2021
Fighting Rare Diseases
Finding Cures – Bringing Hope
Join us as we meet Hudson Freeze, Ph.D., José Luis Millán, Ph.D., and two of the patients they cured for a conversation on how their research is saving the lives of children facing rare disease.
Latest news
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Rare Disease Day gathers scientists, doctors and families
After a break during the pandemic, Rare Disease Day is back and better than ever. -
From child neurology to stem cells: An interview with Evan Snyder
In honor of his recent inclusion in a notable neurology textbook, we interviewed Sanford Burnham Prebys Professor Evan Snyder about how his work in child neurology and social work informed his foundational discoveries in the early history of stem cell research. -
This enzyme is one of the hardest working proteins in the body
Researchers led by Yu Yamaguchi, M.D., Ph.D., have shown that in the absence of a certain protein, levels of an important carbohydrate increase to up to 40 times their usual level. -
How microbes shape human health: an interview with Andrei Osterman
Microbes living in and on our bodies are key players in our health, and their power can be harnessed to enhance it. -
Fighting rare diseases: Finding treatments and bringing hope to families
Two patients whose lives were saved by discoveries made by Hudson Freeze, Ph.D., and José Luis Millán, Ph.D., joined the scientists for a conversation about what this work means to them and how their lives have been impacted. -
Hospitals were full. One scientist stepped up.
Physician-scientist Evan Snyder spent two weeks in a gymnasium-turned ICU caring for people with severe COVID-19. -
Sanford Burnham Prebys scientist joins historic effort to help children with rare disease
The consortium is funded by a $5 million, five-year NIH grant and will address decades of unresolved questions. -
Families find hope at our 10th Annual Rare Disease Day Symposium
The unofficial theme of Sanford Burnham Prebys’ 10th annual Rare Disease Day symposium can be summarized in one word:
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Parents gain answers about their child’s mysterious condition, thanks to SBP scientists
For the parents of a six-year-old Hispanic boy and a seven-year-old Qatari girl, answers remained elusive.
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Meeting the “man who saved my son’s life”
“I’ve got really cool stuff in my body,” 6-year-old Baraa Ismail proclaimed to
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SBP Rare Disease Day Symposium: We can’t do it alone
The 9th annual Rare Disease Day Symposium once again opened its doors to the global community with a genui
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Professor Hudson Freeze helps dreams come true for rare disease patient
When Morgan Webb Liddle is riding a horse, it’s one of the only times she feels “free,” she says.
Publications
Quantitative atomic force microscopy provides new insight into matrix vesicle mineralization.
Plaut JS, Strzelecka-Kiliszek A, Bozycki L, Pikula S, Buchet R, Mebarek S, Chadli M, Bolean M, Simao AMS, Ciancaglini P, Magrini A, Rosato N, Magne D, Girard-Egrot A, Farquharson C, Esener SC, Millan JL, Bottini M
Arch Biochem Biophys 2019 May 30 ;667:14-21
Cardiac Hyaluronan Synthesis Is Critically Involved in the Cardiac Macrophage Response and Promotes Healing After Ischemia Reperfusion Injury.
Petz A, Grandoch M, Gorski DJ, Abrams M, Piroth M, Schneckmann R, Homann S, Müller J, Hartwig S, Lehr S, Yamaguchi Y, Wight TN, Gorressen S, Ding Z, Kötter S, Krüger M, Heinen A, Kelm M, Gödecke A, Flögel U, Fischer JW
Circ Res 2019 May 10 ;124(10):1433-1447
Arrest of Fetal Brain Development in ALG11-Congenital Disorder of Glycosylation.
Mulkey SB, Ng BG, Vezina GL, Bulas DI, Wolfe LA, Freeze HH, Ferreira CR
Pediatr Neurol 2019 May ;94:64-69
Sphingosine 1-phosphate receptor 5 (S1PR5) regulates the peripheral retention of tissue-resident lymphocytes.
Evrard M, Wynne-Jones E, Peng C, Kato Y, Christo SN, Fonseca R, Park SL, Burn TN, Osman M, Devi S, Chun J, Mueller SN, Kannourakis G, Berzins SP, Pellicci DG, Heath WR, Jameson SC, Mackay LK
J Exp Med 2022 Jan 3 ;219(1)
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings.
Wilson MP, Garanto A, Pinto E Vairo F, Ng BG, Ranatunga WK, Ventouratou M, Baerenfaenger M, Huijben K, Thiel C, Ashikov A, Keldermans L, Souche E, Vuillaumier-Barrot S, Dupré T, Michelakakis H, Fiumara A, Pitt J, White SM, Lim SC, Gallacher L, Peters H, Rymen D, Witters P, Ribes A, Morales-Romero B, Rodríguez-Palmero A, Ballhausen D, de Lonlay P, Barone R, Janssen MCH, Jaeken J, Freeze HH, Matthijs G, Morava E, Lefeber DJ
Am J Hum Genet 2021 Nov 4 ;108(11):2130-2144
The Autophagy, Inflammation and Metabolism Center international eSymposium - an early-career investigators' seminar series during the COVID-19 pandemic.
Nieto-Torres JL, Durgan J, Franco-Romero A, Grumati P, Guardia CM, Leidal AM, Mandell MA, Towers CG, Wang F
J Cell Sci 2021 Oct 1 ;134(19)
Treatment with bone maturation and average lifespan of HPP model mice by AAV8-mediated neonatal gene therapy via single muscle injection.
Matsumoto T, Miyake K, Miyake N, Iijima O, Adachi K, Narisawa S, Millán JL, Orimo H, Shimada T
Mol Ther Methods Clin Dev 2021 Sep 10 ;22:330-337
Autophagy in major human diseases.
Klionsky DJ, Petroni G, Amaravadi RK, Baehrecke EH, Ballabio A, Boya P, Bravo-San Pedro JM, Cadwell K, Cecconi F, Choi AMK, Choi ME, Chu CT, Codogno P, Colombo MI, Cuervo AM, Deretic V, Dikic I, Elazar Z, Eskelinen EL, Fimia GM, Gewirtz DA, Green DR, Hansen M, Jäättelä M, Johansen T, Juhász G, Karantza V, Kraft C, Kroemer G, Ktistakis NT, Kumar S, Lopez-Otin C, Macleod KF, Madeo F, Martinez J, Meléndez A, Mizushima N, Münz C, Penninger JM, Perera RM, Piacentini M, Reggiori F, Rubinsztein DC, Ryan KM, Sadoshima J, Santambrogio L, Scorrano L, Simon HU, Simon AK, Simonsen A, Stolz A, Tavernarakis N, Tooze SA, Yoshimori T, Yuan J, Yue Z, Zhong Q, Galluzzi L, Pietrocola F
EMBO J 2021 Oct 1 ;40(19):e108863
Prenatal enzyme replacement therapy for Akp2 -/- mice with lethal hypophosphatasia.
Hasegawa A, Nakamura-Takahashi A, Kasahara M, Saso N, Narisawa S, Millán JL, Samura O, Sago H, Okamoto A, Umezawa A
Regen Ther 2021 Dec ;18:168-175