November 19, 2020November 19, 2020
Latest NORD Webinar Offers Insights on Starting Nonprofit, Patient Registry
News, syndicated
Leaders in the U.S. rare disease community came together recently for a webinar to present helpful information on how ... Read more
November 19, 2020November 19, 2020
Taysha, Invitae Partner to Offer Genetic Testing for Lysosomal Storage Disorders, Epilepsy
News
Taysha Gene Therapies and Invitae have announced a partnership to support Invitae’s Detect Lysosomal Storage Diseases (Detect LSDs) and ... Read more
November 12, 2020November 12, 2020
Cause of Death Unknown in Child Participating in LYS-SAF302 Gene Therapy Trial
News
One of the children participating in the Phase 2/3 trial of LYS-SAF302, Lysogene’s gene therapy candidate for Sanfilippo syndrome ... Read more
November 10, 2020November 10, 2020
Subtypes of Sanfilippo Syndrome
Health Insights
Sanfilippo syndrome is a progressive genetic disorder marked by continual damage to brain cells and early death. There are ... Read more
November 6, 2020November 6, 2020
NORD Hosting ‘RareLaunch’ Workshops to Help Start Rare Disease Non-profits
News, syndicated
The National Organization for Rare Disorders (NORD)’s RareLaunch training program will host two days of free virtual workshops in ... Read more
November 5, 2020November 5, 2020
Hearing Loss Common in Young Patients With MPS Disorders, Study Finds
News
Hearing loss is the most common auditory complaint among young patients with different forms of mucopolysaccharidosis (MPS), including Sanfilippo syndrome, ... Read more
November 3, 2020November 3, 2020
Speech Therapy for Sanfilippo Syndrome
Health Insights
Sanfilippo syndrome is a rare genetic disorder related to the metabolism of a large sugar molecule called heparan sulfate. ... Read more
October 30, 2020October 28, 2020
The Roller Coaster of Parenting a Special Needs Child
Columns, Parenting a Sanfilippo Child – a Column by Kelly Wallis
Raising a special needs child is challenging. It is physically tiring and emotionally draining. But it is incredibly rewarding, ... Read more
October 29, 2020October 29, 2020
‘Save Connor’ Video Raising Funds for First-ever Clinical Trial in Sanfilippo Type C
News
An emotional video about a boy with Sanfilippo syndrome and his parents’ fight to save him has raised about $244,000 ... Read more
October 27, 2020October 28, 2020
UK Organization ‘Same But Different’ Announces ‘Glimmer of Hope’ Photo Contest Winner
News, syndicated
A photo of a bespectacled young boy, his red baseball cap slightly askew as he enjoys time outside, will ... Read more
October 27, 2020October 27, 2020
Emotions You May Feel After a Diagnosis of Sanfilippo Syndrome
Health Insights
The genetic disorder Sanfilippo syndrome, also known as mucopolysaccharidosis type III, is so rare that most physicians are unfamiliar with it. ... Read more
October 22, 2020October 21, 2020
Living My Own Life as a Sanfilippo Sibling
Columns, Finding My Peace with Sanfilippo – a Column by Emily Wallis
You live with many fears when a family member is diagnosed with a terminal disease. However, there is a ... Read more

November 19, 2020November 19, 2020

Latest NORD Webinar Offers Insights on Starting Nonprofit, Patient Registry

News, syndicated

Leaders in the U.S. rare disease community came together recently for a webinar to present helpful information on how to start a nonprofit and patient registry. They shared about ... Read more

November 19, 2020November 19, 2020

Taysha, Invitae Partner to Offer Genetic Testing for Lysosomal Storage Disorders, Epilepsy

News

Taysha Gene Therapies and Invitae have announced a partnership to support Invitae’s Detect Lysosomal Storage Diseases (Detect LSDs) and Behind the Seizure programs by offering free genetic testing to ... Read more

November 12, 2020November 12, 2020

Cause of Death Unknown in Child Participating in LYS-SAF302 Gene Therapy Trial

News

One of the children participating in the Phase 2/3 trial of LYS-SAF302, Lysogene’s gene therapy candidate for Sanfilippo syndrome type A, has died. The exact cause of death is ... Read more

November 10, 2020November 10, 2020

Subtypes of Sanfilippo Syndrome

Health Insights

Sanfilippo syndrome is a progressive genetic disorder marked by continual damage to brain cells and early death. There are four subtypes of Sanfilippo, each caused by a specific genetic ... Read more

November 6, 2020November 6, 2020

NORD Hosting ‘RareLaunch’ Workshops to Help Start Rare Disease Non-profits

News, syndicated

The National Organization for Rare Disorders (NORD)’s RareLaunch training program will host two days of free virtual workshops in December, with the aim of empowering leaders to start non-profit ... Read more

November 5, 2020November 5, 2020

Hearing Loss Common in Young Patients With MPS Disorders, Study Finds

News

Hearing loss is the most common auditory complaint among young patients with different forms of mucopolysaccharidosis (MPS), including Sanfilippo syndrome, a small study suggests. According to investigators, these findings highlight ... Read more

November 3, 2020November 3, 2020

Speech Therapy for Sanfilippo Syndrome

Health Insights

Sanfilippo syndrome is a rare genetic disorder related to the metabolism of a large sugar molecule called heparan sulfate. The buildup of heparan sulfate causes damage to the brain ... Read more

October 30, 2020October 28, 2020

The Roller Coaster of Parenting a Special Needs Child

Columns, Parenting a Sanfilippo Child – a Column by Kelly Wallis

Raising a special needs child is challenging. It is physically tiring and emotionally draining. But it is incredibly rewarding, too. Some days leave me feeling like I know nothing ... Read more

October 29, 2020October 29, 2020

‘Save Connor’ Video Raising Funds for First-ever Clinical Trial in Sanfilippo Type C

News

An emotional video about a boy with Sanfilippo syndrome and his parents’ fight to save him has raised about $244,000 toward a first-ever clinical trial that could give the youngster ... Read more

October 27, 2020October 28, 2020

UK Organization ‘Same But Different’ Announces ‘Glimmer of Hope’ Photo Contest Winner

News, syndicated

A photo of a bespectacled young boy, his red baseball cap slightly askew as he enjoys time outside, will be featured on the front cover of an upcoming calendar ... Read more