Human Genetics Program

José Luis Millán, Ph.D. and young patient

Gene effects

Most genetic disorders are present from birth and are quite rare, often affecting only one person in every several thousand or million.

While some of these genetic diseases are well known, such as sickle cell anemia and cystic fibrosis, others are so rare that there is only one affected person in the world. Whether a genetic disease affects thousands or just one person, there are many challenges for patients, their families, and caregivers, including the time it takes for many patients to get a correct diagnosis. 

Director's statement

Our focus is on the discovery of new genetic disorders and improving our understanding of those we already know. Using zebrafish, mouse models, patient cells and stem cell technologies, we are probing the pathological mechanisms of genetic disorders to address unanswered questions. Our fundamental research has led to clinically useful diagnostic tests and novel therapies for patients. Strong patient and advocacy relations serve as a foundation for our goal to shed light on the obscure paths of genetic disorders and provide solid information and guidance.

– Hudson Freeze, Ph.D., Program Director

Appointments

Publications

Inhibition of Tissue-Nonspecific Alkaline Phosphatase Attenuates Ectopic Mineralization in the Abcc6-/- Mouse Model of PXE but Not in the Enpp1 Mutant Mouse Models of GACI.

Li Q, Huang J, Pinkerton AB, Millan JL, van Zelst BD, Levine MA, Sundberg JP, Uitto J

J Invest Dermatol 2019 Feb ;139(2):360-368

A mammalian homolog of the zebrafish transmembrane protein 2 (TMEM2) is the long-sought-after cell-surface hyaluronidase.

Yamamoto H, Tobisawa Y, Inubushi T, Irie F, Ohyama C, Yamaguchi Y

J Biol Chem 2017 May 5 ;292(18):7304-7313

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.

Ferreira CR, Xia ZJ, Clément A, Parry DA, Davids M, Taylan F, Sharma P, Turgeon CT, Blanco-Sánchez B, Ng BG, Logan CV, Wolfe LA, Solomon BD, Cho MT, Douglas G, Carvalho DR, Bratke H, Haug MG, Phillips JB, Wegner J, Tiemeyer M, Aoki K, Undiagnosed Diseases Network., Scottish Genome Partnership., Nordgren A, Hammarsjö A, Duker AL, Rohena L, Hove HB, Ek J, Adams D, Tifft CJ, Onyekweli T, Weixel T, Macnamara E, Radtke K, Powis Z, Earl D, Gabriel M, Russi AHS, Brick L, Kozenko M, Tham E, Raymond KM, Phillips JA 3rd, Tiller GE, Wilson WG, Hamid R, Malicdan MCV, Nishimura G, Grigelioniene G, Jackson A, Westerfield M, Bober MB, Gahl WA, Freeze HH

Am J Hum Genet 2018 Oct 4 ;103(4):553-567

Visualization of Mineral-Targeted Alkaline Phosphatase Binding to Sites of Calcification In Vivo.

Amadeu de Oliveira F, Narisawa S, Bottini M, Millán JL

J Bone Miner Res 2020 Apr 28 ;

Golgi Acidification by NHE7 Regulates Cytosolic pH Homeostasis in Pancreatic Cancer Cells.

Galenkamp KMO, Sosicka P, Jung M, Recouvreux MV, Zhang Y, Moldenhauer MR, Brandi G, Freeze HH, Commisso C

Cancer Discov 2020 Mar 21 ;

Expanding the molecular and clinical phenotypes of FUT8-CDG.

Ng BG, Dastsooz H, Silawi M, Habibzadeh P, Jahan SB, Fard MAF, Halliday BJ, Raymond K, Ruzhnikov MRZ, Tabatabaei Z, Taghipour-Sheshdeh A, Brimble E, Robertson SP, Faghihi MA, Freeze HH

J Inherit Metab Dis 2020 Feb 12 ;

A Mutation Map for Human Glycoside Hydrolase Genes.

Hansen L, Husein DM, Gericke B, Hansen T, Pedersen O, Tambe MA, Freeze HH, Naim HY, Henrissat B, Wandall HH, Clausen H, Bennett EP

Glycobiology 2020 Feb 10 ;

Analysis of homologous and heterologous interactions between UDP-galactose transporter and beta-1,4-galactosyltransferase 1 using NanoBiT.

Wiertelak W, Sosicka P, Olczak M, Maszczak-Seneczko D

Anal Biochem 2020 Mar 15 ;593:113599

Defining the clinical phenotype of Saul-Wilson syndrome.

Ferreira CR, Zein WM, Huryn LA, Merker A, Berger SI, Wilson WG, Tiller GE, Wolfe LA, Merideth M, Carvalho DR, Duker AL, Bratke H, Haug MG, Rohena L, Hove HB, Xia ZJ, Ng BG, Freeze HH, Gabriel M, Russi AHS, Brick L, Kozenko M, Earl DL, Tham E, Nishimura G, Phillips JA 3rd, Gahl WA, Hamid R, Jackson AP, Grigelioniene G, Bober MB

Genet Med 2020 May ;22(5):857-866

Show All Publications