Hope, Care &
Collaboration

That's how we beat rare genetic disorders like PSMC5 genetic mutations.
Ollie and Yoni

Meet Our Experts

The team behind our research

Prof. Alfred Goldberg

Harvard Medical School​

Dr. Galen
Collins​

Harvard Medical School​

Siddharth Srivastava, MD

Harvard Medical School

Prof. David Rubinsztein

Cambridge Institute for Medical Research​

Jennifer M. Bain, MD, PhD​

Expertise in Pediatric Neurology

Prof. Lior Zangi

Expertise in Genomic Sciences

Digging, exploring, research, overarching love for their sons, and some luck brought these two families together.  Together, they vowed to promote better quality of life and treatments for their sons.

How did two random families come together to form the PSMC5 Foundation?

Research conducted by professionals in top-rated universities

How can we help you?

Do you need help with your child on a rare gene disorder or special needs? We've been through it. We're happy to help you!

We can help guide you.

It’s challenging to raise a child with special needs or rare genetic disorder.  Our families have already done the due diligence and navigated through the murky system.  We’re happy to share our process and tips.  Hopefully, we can point you in the right direction.

Our hope is that you’ll attain:

  • Educational guidance
  • Disease / Gene path of support
  • City / State funding availability

197

children and families supported

30,000

hours of care and support

6,683

research papers published

200+

community members in the area

It's been wonderful to be able to play a major role in this field's development - from a topic that few people thought worthy of study to one which is central to understanding many aspects of cell function.

We are currently working continuously to build awareness around our research. You can get involved with our efforts in the follow ways:

Your donation and support goes directly to our targeted research project to treat PSMC5 gene mutations.

Blog

As parents, we're in this together. Learn about our story. And how we can help others like you.

Prof. Alfred Goldberg

Alfred Goldberg has been associated with Harvard during his entire academic career: he earned his A. B. in 1963 and his Ph.D. in 1968 from Harvard University and was appointed an Assistant Professor at Harvard Medical School in 1969, immediately following one year as an Instructor. Dr. Goldberg has been a Professor at Harvard Medical School since 1977.

Dr. Galen Collins​

Title:Research Fellow in Cell Biology (INT)
Institution: Harvard Medical School
Department: Cell Biology
Address: Harvard Medical School, Cell Biology, 240 Longwood Ave, Boston MA 02115

Siddharth Srivastava, MD

I am a pediatric neurologist at Boston Children’s Hospital specializing in neurogenetics.

My research involves studying different genetic causes of neurodevelopmental presentations — such as autism, intellectual disability, cerebral palsy, and developmental regression — using the multimodal approach of gene discovery, cognitive/behavioral phenotyping, and biomarker identification. This approach not only pinpoints possible mechanisms of disease but also delineates appropriate targets for therapy in future clinical trials aimed at improving neurodevelopmental outcomes in these disorders.

Most recently, my work has focused on determining neuroimaging correlates of cognition and behavior in Phelan-McDermid Syndrome and Tuberous Sclerosis Complex, two developmental synaptopathies associated with a high prevalence of autism and intellectual disability.

Prof. David Rubinsztein

Prof. David Rubinsztein is a  Deputy Director of CIMR and is a Professor of Molecular Neurogenetics. He is also a professor at the UK Dementia Research Institute and a Honorary Consultant in Medical Genetics. He is in the department of Medical Genetics.

Jennifer M. Bain, MD, PhD

Dr. Jennifer Bain is a board-certified neurologist with special qualification in child neurology. She has studied CNS development from her PhD thesis studiying the response of the developing brain to hypoxic-ischemic injury to studying the neurological outcomes of children exposed to extracorporeal membrane oxygenation (ECMO), using electroencephalography (EEG) to monitor real-time brain activity and predict seizure outcomes. She works closely with a multidisciplinary team of neuropsychologists, psychiatrists and therapists working with children with neurodevelopmental, genetic and degenerative conditions. She runs the natural history study of HNRNPH2-related disorder and is currently working closely with developmental neuroscientists to use electroencephalography (EEG) to characterize brain dysfunction and correlate with behavioural phenotypes. The use of EEG as a non-invasive, validated, objective measures is currently being studied in this group to better understand and monitor neurodevelopment, and potentially predict future developmental trajectories of this disorder and other genetically-identified neurodevelopment disorders, such as other HNRNPs, KIF1A, GRIN disorders, SLC6A1 and ASXL3.

She is a member of The Columbia University Consortium on Neurodevelopmental Studies of Autism Spectrum and Related Disorders, has worked as a consultant for Simons Searchlight, presenting clinical information provided by families of individuals with neurodevelopmental disabilities and is a scholar in the Rare Disease Research Training Program, a National Institutes of Health (NIH) R25-funded program to provide support to early investigators in the field of rare disease and a clinical board member of Combined Brain Consortia.

Lior Zangi, PhD

Multi-Disciplinary Training Areas: Development, Regeneration, and Stem Cells [DRS], Genetics and Data Science [GDS]

Education: BSc, Hebrew University | MSc, Hebrew University Hadassah-Medical School |PhD, Weizmann Institute of Science