Lysogene awarded Innovation Passport by the UK MHRA for the GM1-gangliosidosis program

Paris, France — 20 December 2021 at 08:00 am CET — Lysogene (FR0013233475 – LYS), a phase 3 gene therapy platform Company targeting central nervous system (CNS) diseases, announced today that the Medicines and Healthcare products Regulatory Agency (MHRA) has awarded LYS-GM101 investigational gene therapy an ‘Innovation Passport’ for the treatment of GM1-gangliosidosis under the United Kingdom’s (UK) Innovative Licensing and Access Pathway (ILAP). The decision was made by the ILAP Steering Group, which is comprised of representatives from MHRA, National Institute for Health and Care Excellence (NICE), Scottish Medicines Consortium (SMC), All Wales Therapeutics and Toxicology Centre (AWTTC) and representatives from the ILAP Patient and Public Reference Group. The Innovation Passport is the entry point to ILAP, designed to accelerate the development and access to promising medicines in the UK, thereby facilitating and improving patient access to new medicines.

Geneticist Position

The Division of Medical Genetics in the Department of Pediatrics at Harbor-UCLA Medical Center is seeking a Geneticist to join an established academic program. The successful candidate will participate in the delivery of outpatient and inpatient care for individuals with genetic conditions, from birth to adulthood.  The Orphan Disease Unit focusing on lysosomal diseases within the Institute for Translational Genomics and Population Sciences at the Lundquist Institute, has opportunities for productive research collaborations.  The Lundquist Institute is one of the largest independent biomedical research institutions in the US.  

Interested applicants should email a curriculum vitae and cover letter to Lynne Smith, M.D. Chair, Department of Pediatrics, Harbor-UCLA Medical Center at: 

Activity of daily living in mucopolysaccharidosis IVA patients: Evaluation of therapeutic efficacy

Treatments for Mucopolysaccharidosis IVA (MPS IVA, also called Morquio syndrome type A) by enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT) are limited in efficacy depending on the age of initiation and clinical phenotype. Thus, this study aims to assess the effects of treatments on MPS IVA patients compared to untreated MPS IVA patients and an age-matched control group.

The full article can be viewed here.

Gaucher Awareness Video Premiere

The Gaucher Community Alliance is premiering its new video campaign to raise awareness about Gaucher disease during October’s Gaucher Awareness Month. The video shows the world the many ages, faces, ethnicities, languages and cultures it affects and will help medical professionals and people affected by Gaucher recognize symptoms.

Join us for the premiere online, hosted live by Adam Rose, fellow Gaucher patient, actor and TikTok star, and featuring Gaucher patients from around the world. The first 100 people to RSVP by September 1 will receive a special gift to enjoy during the premiere.

RSVP here:
Saturday, October 2, 2021
7:00 pm Eastern Time
(6pm Central, 5pm Mountain, 4pm Pacific)

One-year fellowship in Lysosomal Storage Diseases as a Health Sciences Clinical Instructor – apply at the University of California

The Division of Genetics and Genomic Medicine, Department of Pediatrics at the University of California, Irvine School of Medicine is offering a one-year fellowship program in Lysosomal Storage Diseases as a Health Sciences Clinical Instructor

The Fellowship program is designed to provide extensive training in the recognition, natural history, diagnosis, testing strategies, treatment, and management of lysosomal storage diseases (LSDs) and the co-morbidities.

The Fellowship is designed to provide extensive clinical training as well as opportunities for research and teaching in LSDs in a dynamic, fast paced setting. The trainee will complete 12 months of fellowship which includes approximately 50% in clinical training related to LSDs/inborn errors, and 50% in research activities. The trainee will receive guidance in designing, IRB requirements, good clinical practice and collecting data for a research project focused on an LSD Additionally the trainee will prepare a manuscript to a peer reviewed and present the research findings at the genetics conference, Lysosomal diseases WORLD meeting, Translational Science Day, and other conferences.

Minimum Requirements:
Candidates may include physicians or genetic counselors with an interest in metabolic disorder. Counselors may be board-certified or eligible for certification in Genetic counseling

Please contact Virginia Kimonis or +19492667946 for details



Document requirements

Reference requirements

  • 2-4 required (contact information only)

Lasting Lessons from the Pandemic: Advancing the Understanding of Special Education and Therapeutic Needs of Children with Neurodegenerative Disorders – special white paper for review

Check out this important discussion:

When the COVID-19 pandemic halted in-person instruction, educators, therapists, and parents faced unprecedented challenges as they sought to maintain the delivery of educational and therapeutic services. Without any kind of model, new methods of delivering special education and therapeutic services arose out of necessity: Educators and therapists faced the burden of learning in the moment. The abrupt transition to distance delivery presented a unique challenge for children with neurodegenerative conditions who require consistent and intensive instruction and treatment to maintain their fragile skills. This brief is designed for educators and therapists who play a critical role in protecting the neurocognitive function and quality of life of children with neurodegenerative conditions.

To learn more about these issues in depth , review the white paper available HERE.

Experts’ views on COVID-19 vaccination and the impact of the pandemic on patients with Gaucher disease

The current outbreak of the novel severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2), causing coronavirus disease 2019 (COVID-19), has become a worldwide pandemic with high morbidity and mortality in individuals with chronic disorders.1 The pandemic introduced many unanticipated challenges for patients with chronic and rare diseases, such as Gaucher disease (GD).2 GD is the most common inborn error of metabolism, caused by biallelic glucosylceramidase beta (GBA) variants and affecting the recycling of cellular glycolipids; GD manifests as hepatosplenomegaly, thrombocytopenia, anaemia and bone disease.3

The entire article is available here.

National MPS Society 2021 Research Grant: Now accepting submissions

MPS Society grants Cycle II now open for submission of Letters of Intent (LOI) due July 15, 2021

To access the National MPS Society’s Grant Submission Portal, please use the following link:

Here is more information about the MPS Society’s grants program.

Letter from Sue Kahn, Executive Director, NTSAD: Starting a new chapter after stepping down from leadership

National Tay-Sachs & Allied Diseases Association

June 2021   

Dear NTSAD Community,   
It’s with mixed emotions that I share with you that after nearly 14 years, I am stepping down from my role as NTSAD’s executive director at the end of October. I am looking forward to starting a new chapter in my life, knowing that NTSAD remains strong. I will help facilitate a smooth transition in leadership and support the board of directors who has initiated the search for my successor.    

It has been my great honor to lead NTSAD. I am proud of the extraordinary progress in research as well as our ongoing efforts to put the needs of families first with comprehensive resources, programs, and services. Together, we have accomplished more than I ever hoped when I joined NTSAD in 2007. Currently, there are 14 drug development programs and clinical trials underway, and industry continues to invest in developing therapies for Tay-Sachs, Canavan, GM1 gangliosidosis, and Sandhoff diseases.
NTSAD is one of the oldest and most respected patient advocacy groups in the rare community and remains in a position of financial strength with healthy reserves. I am immensely grateful to our dedicated board of directors and compassionate NTSAD staff.

In addition, NTSAD has a five-year strategic plan in place, and recently broadened research direction focusing on clinical development, early diagnosis, newborn screening, and translational research. During the last two decades, NTSAD invested in much of the early research that has led to today’s drug development programs and clinical trials. Since 2002, NTSAD has awarded more than $4 million in research grants that have been leveraged to more than $30 million in additional grants from the National Institutes of Health and other institutions.
The people, the organization, and my work all mean so much to me. This role has allowed me to connect with inspiring people, starting with the families who allow us to share in the darkest and brightest days of their journey, and who will move mountains to advocate for their child or themselves, support others, and raise money for research. I also have been honored to work closely with brilliant and dedicated experts who are making a brighter future possible through research, clinical care, or developing new treatments. It has been a blessing to meet so many people who have influenced me and touched my heart.

The work continues, and I look forward to celebrating with you when effective treatments are found. My heart will remain with the NTSAD Community, always.
With gratitude, 

P.S. If you have any questions about the search, please contact

National MPS Society Family Meeting

SAVE THE DATE! — Join us June 19-20 and 26-27 for our 35th Annual Family Conference! Taking place virtually, this conference will focus around the theme of remaining connected and the overlap within diagnoses, but highlight and recognize the uniqueness of each through individualized sessions for each syndrome type. The conference features clinicians, scientists, researchers, FDA representatives, advocacy, family support, and much more. More information here, registration information coming soon!