Hudson H. Freeze, Ph.D.
Principal Investigator/centerandlabs/childrenshealth/freezelab/PublishingImages/Hudson_Freeze_asbmb_square.jpg
Dr.  Freeze  joined  the  faculty  at  the  Sanford  Burnham  Institute  in  1988  and  served  as  the Director of the Glycobiology and  Carbohydrate Chemistry Program  from 2000-2008.   His work focuses on pathology resulting from faulty glycosylation, the process of adding sugar chains to proteins  and  lipids. Carbohydrates are required for proper secretion and targeting of thousands of proteins an often overlooked fact of biology.  He is driven by the search for novel therapeutics to treat patients with mutations leading to glycosylation defects called Congenital Disorders of Glycosylation or CDGs.  We invite you to learn about the children with CDGs, read their stories, and meet the researchers seeking a cure for their disorders.

Bobby Ng
Research Assistant and Lab Manager/centerandlabs/childrenshealth/freezelab/Lab%20Member%20Images/bobby2016.jpg
Bobby joined the lab in 2006 and for the past several years has been responsible for the coordination between physicians who have identified CDG cases and our lab. He tries to diagnose these incoming patient samples using various biochemical and genome sequencing techniques. Recently our lab has joined forces with the University of Washington Center for Mendelian Genomics to which he has worked very closely with to diagnose these cases.

He enjoys the many challenges of finding something new that hasn't been previously discovered; while helping families with CDG children understand more about their child's disorder. For many families not knowing the underlying cause of their child's disorder is the hardest part. This is why Bobby works on CDG, to help give families answers.

Bhumika Bhatt, Ph.D.
Postdoctoral Associate/centerandlabs/childrenshealth/freezelab/Lab%20Member%20Images/BhumikaPhoto_sm.jpg

Bhumika completed a B.Sc in Microbiology and M.Sc in Biomedical Sciences from the University of Delhi.  During her M.Sc, she studied interactions of a transcription regulator, hSin3B with core-repressor complex proteins and also characterized subdomains of Mad1 (a tumor suppressor) that interacts with hSin3B. She then moved to Austria to pursue her PhD in the lab of Dr. Egon Ogris at the Medical University of Vienna. In her PhD, she studied Protein Phosphatase 2A (PP2A) regulation, its substrate identification and its role in cell cycle control. In order to identify short-lived, transient substrates of PP2A, she has co-established an easy-to-use, inexpensive biochemical method. Additionally, she also investigated the role of phosphorylation of a regulatory subunit of PP2A, Rts1, in cell cycle as well as in PP2A holoenzyme assembly and activity. With her expertise in enzymology and molecular biology, she now focuses in unraveling the mechanism of NGLY1 function and interactors with a goal of determining a therapeutic strategy in NGLY1-deficient patients.

Mitali Tambe, Ph.D.
Postdoctoral Associate/centerandlabs/childrenshealth/freezelab/Lab%20Member%20Images/Mitali_sm.jpg
Mitali earned her Bachelors in Pharmaceutical Sciences (B. Pharm) degree from Mumbai University. During her undergraduate studies, Mitali developed an inclination towards Cellular biology and Pharmacology. She went on to pursue a Master’s degree in Pharmaceutical Sciences at Butler University, Indianapolis, where she studied the structure function relation of the dopamine D2 receptor in the lab of Dr. Medhane Cumbay. Mitali entered Purdue University in 2009 where she pursued a PhD in the department of Medicinal Chemistry and Molecular Pharmacology. At Purdue, Mitali worked on the neuroprotective activity of polyphenols in cellular models of Parkinson’s disease in the lab of Dr. Jean-Christophe Rochet. Mitali joined the Freeze Lab in 2015 and her research aims to understand the mechanistic details underlying the pathogenesis of the rare congenital disease involving NGLY1 deficiency using biochemistry and cell biology techniques.
Amy Zimmon
Research Administrative Specialist/centerandlabs/childrenshealth/freezelab/Lab%20Member%20Images/amyz.jpg
Amy Zimmon is a graduate of the University of California, Davis (B.A., English), and has served as Dr. Freeze’s Research Administrative Specialist since 2011. Amy is the administrative contact for Dr. Freeze and his lab, assisting with grant and manuscript preparation and submission, day-to-day tasks, and special events. Amy has organized the annual SBP Rare Disease Day Symposium for the past six years (2011-2016), and looks forward to continuing to serve the rare disease community through future projects with the Freeze lab.
Jonathan Wong
Lab Assistant/centerandlabs/childrenshealth/freezelab/Lab%20Member%20Images/jonathanwong.jpg
Jonathan Wong joined the Freeze lab in 2014 as a Lab Assistant.  Jonathan graduated from the University of California, San Diego in 2015 with a B.S. degree in Biochemistry and Cell Biology.
Jamie Smolin
Lab Assistant
Jamie Smolin was born and raised in San Diego and graduated with a BSci in Applied Biology from Rose Hulman Institute of Technology. Jamie joined the Freeze Lab in 2010 and has worked on the mannose project, PLE project, and now the NGLY1 project.