Our DNA can tell us more information than you might think. As ‘the codebook for life’, it has many stories to tell. Your DNA can give us insights into your unique story. For example, we can trace back your ancestry, test how your body may react to foods, and even predict how you can react to some medications before you take them. Genomics, the area of science that investigates all DNA, can also be used throughout your lifespan to help inform your clinical care. Below are just some examples of when genomic medicine can be used. Image adapted from: Shendure et al., 2020 These tests, often only requiring saliva or a small amount of blood, can provide a wealth of knowledge that can be used to help maximise your health! As explored in a previous blog post, carrier screening is a great example of genomic testing that can dramatically change the lives of people and their family planning choices. Storytime I would now like to introduce you to Cindy. Cindy is an excited and slightly nervous (fictional) first-time mother. She is 11 weeks pregnant and is currently considering what prenatal testing she would like to do. There are a couple of options, but she decides to undergo a non-invasive prenatal screening (NIPT). This screening test looks at the developing baby’s DNA in the mother’s blood. Not long after submitting the test, Cindy received her result. The doctor tells Cindy that her baby has a high chance of having a serious genetic condition, and more diagnostic testing is needed to confirm this result. After more accurate testing, she received a diagnosis from a genetic counsellor. Cindy was shocked and worried about the future of her baby. After more talking, the counsellor explained that treatment was available. Months later, Cindy gives birth to a beautiful girl, Sarah. She starts the treatment that gives Sarah the best chance of living with her condition. Sarah still has some minor health complications but has the potential to live a healthy life! Source: Pixabay via Michelle_Raponi As shown in this story, Genomic testing can be lifesaving! It can provide families with answers and hope. Without this genetic screening test, there was no way of knowing that Sarah had this condition and the family would not be able to access early treatment. Sarah may have become ill without anyone knowing the cause of her illness for some time. Being able to identify the condition your loved one is presenting with is often a long and very stressful time for families, as many NP-C parents will know. Genetic testing is an option to identify known conditions much earlier so treatment can begin as soon as possible. In the case of Cindy, her chances of a ‘normal’ pregnancy journey were lost. However, the new path doesn’t have to be grim. With tech development and a better understanding of genomic medicine, babies like Sarah have a better chance of living their life to the fullest. Prenatal testing is just one example of genomic testing. There are so many other areas where this testing can make a real difference in people’s lives. I understand that Cindy’s story does not entirely reflect the NP-C experience, as there is not yet a highly effective treatment for all people diagnosed. However, with more research and time, this may be the future of the condition. I wanted to write this post to show you what this testing can do and how it helps people. I hope that genomic testing is a little less mysterious now. It really is an exciting area that could lead to more diagnoses, support, and treatment. Stay supported and supportive, Ellie

Raised $15,496.10 #fundraiser #RacingforaCause #SupportLocals #DungaDerby #TabulamRacing Amazing fundraisers held in Northern NSW in honour of local #NPCwarrior Tommy. In a heartwarming display of community support and determination, there were two incredible fundraisers to raise funds and awareness for Niemann-Pick type C (NPC) disease. The events brought together passionate individuals who were committed to making a difference in the lives of those affected by this rare genetic disorder. Among the standout efforts were the Dunga Derby group's successful fundraising evening at the Tabulam Racecourse and the Tabulam Race Day, where the local race club rallied behind the cause. Let's dive into the details of this inspiring event. Dunga Derby's Remarkable Contribution: We couldn't help but be amazed by the astounding success of the Dunga Derby group's fundraising evening. Their unwavering dedication and strong sense of community led them to raise a significant amount of money solely within their group. The generosity displayed by the Dunga Derby participants demonstrated the power of unity, as they banded together to support the Australian NPC Disease Foundation. Their efforts not only brought in substantial funds of $12,250.50, but also created a ripple effect, inspiring others to contribute to this worthy cause. Tabulam Race Day's Support: The Tabulam Race Club, recognizing the importance of supporting the Australian NPC Disease Foundation, graciously offered their assistance during the Tabulam Race Day. Despite the scorching heat, the club's members and volunteers rallied behind the cause, raising an incredible $3,245.60. One standout individual, Colleen McQueen, went above and beyond, dedicating the entire day to running around and selling raffle tickets. Her relentless efforts were truly commendable and played a significant role in the success of the event. Jockey Contributions: The solidarity displayed by the racing community was evident through the heartwarming gestures of the jockeys. They gifted Tommy, a brave individual battling NPC disease, with a pair of race goggles and signed jockey pants, also known as silks. These sentimental tokens symbolized the jockeys' support and encouragement for Tom's journey and reflected the unity that exists within the racing fraternity. Such acts of kindness not only touched the hearts of those present but also serve as a reminder of the incredible impact that can be made when individuals from different walks of life come together for a common cause. The fundraisers for the Australian NPC Disease Foundation were a resounding success, thanks to the unwavering support and dedication of the Dunga Derby group, the Tabulam Race Club, and the racing community as a whole. The event showcased the power of collective action, as individuals from various backgrounds and organizations united to make a difference in the lives of those affected by NPC disease. The funds raised will undoubtedly contribute to vital research, patient support, and increased awareness of this rare genetic disorder. Interested in organising your own raffle or fundraiser? Contact us today for free advice and resources.

Pfrieger's Digest for Niemann-Pick type C: Summaries of research advances on selected peer-reviewed publications in scientific journals. By Frank W. Pfrieger, PhD Institute of Cellular and Integrative Neurosciences Centre National de la Recherche Scientifique / University of Strasbourg Strasbourg, France Read the full article here: Covers the period from April 2023 to September 2023 Includes publications related to Niemann-Pick type A-B called Acid Sphingomyelinase Deficiency or ASMD. Please feel free to distribute and forward this issue, and to send feedback to: fw-pfrieger@gmx.de or frank.pfrieger@unistra.fr Support research for a cure of Niemann-Pick disease type C in Australia:

October is Niemann-Pick disease type C Month to raise awareness for those living with and dying from NP-C. To find a solution, we need to first know the issue. The average time to diagnose NP-C is five years. Each year this foundation aims to reduce the time to diagnose by supporting the Australian professional and local community who are unfamiliar with NP-C to recognise the key signs and symptoms of the disease. We are watching our children slowly lose their ability to play, learn, walk, eat... and live. Help us raise awareness of the incurable and neurologically degenerative conditions: Niemann-Pick type C (NPC) and Acid sphingomyelinase deficiency (ASMD). All funds donated or raised will be contributed towards supporting families and research conducted at The Florey Institute of Neuroscience and Mental Health. To find out more about us, visit our website: #NPDawareness #CureNPC #NiemannPickOz Join us to raise awareness🎗for NPC! Edit and download customised social media profile images Edit and/or download read-to-go social media awareness posts Like, follow and share from our social media channels Facebook @NiemannPickOz Instagram @NiemannPickOz Twitter @NiemannPickOz LinkedIn /anpdf Print a downloadable poster below for your local shop or workplace Donate online to help us fund ground-breaking research or financially supporting families left in the NDIS gap or Nominate the ANPDF in your own fundraiser Customisable Social Media Profile Pics Follow the link and edit your online profile pic via Canva. There are three simple profile image templates to pick from. Just drag and drop your photo on to the template and download the file when you're done! Images and Social Posts Below images are available to download or edit online via Canva. #NPDawareness #CureNPC Jump online to personalise your own Niemann-Pick Awareness Month Social Media Posts. Simply drag your preferred photo over the frame and double-click it to re-position the image within the post. Link to editable posts here: Canva Or you can select from the below images that are ready to download and share straight away. Flyers and Posters Download these print-ready posters for your local business or fundraisers by clicking the images below. For PDF print-ready files, email deanna@npcd.org.au. Save the Date! Keep an eye out for our next major charity event in 2024. We have gone back to the drawing board and completely reinvented our annual charity event to bring you something new, bold and interactive - a charity event like no other! Save the date, for our 'Minds in Motion' cocktail event on June 22nd. Stay tuned for more info.

"We remain steadfast in our key priorities to the NPC community," - Zevra Therapeutics Read the full statement from Zevra Therapeutics here: Read the full statement from Kisbee Therapeutics here: To join our fight, as well as fund vital research for a cure, support the Australian NPC Disease Foundation in its goals of "Research. Cure. Persevere." Ways to support NP-C in Australia: Donate online Shop at our online NPC store Fundraise your way! Check our free resources and inspo online.

The story of NP-C began with Irene. Irene was a 17-month-old girl admitted for treatment in a Berlin Children’s Hospital. She had a swollen abdomen (stomach area) and was in a “quite miserable nutritional state”. Albert Niemann was a German intern at the hospital. He had never seen a case like Irene’s in his studies and was at a loss for what it could be. He tried treating her for syphilis but unfortunately, she did not respond and sadly, passed away in 1914. Niemann published a case report, detailing Irene’s condition. This was later picked up by German pathologist, Ludwig Pick who was curious about this mystery fatal condition. After years of study, he was able to explain that the condition was caused by a problem in Irene’s metabolism (the body’s ability to break down organic material). The term ‘Niemann-Pick’ (NP) was first used in the literature for the diagnosis of a 17-month-old boy in 1926, 12 years after Irene's case. Due to the wide range of ages and symptoms in people living with NP, scientists thought they were all separate forms of the same condition. It wasn’t until the 1980s that scientists were able to explain that there were two different causes, and therefore two different conditions that were previously thought to be the one ‘Niemann-Pick Disease’. These separate conditions are known as NP-C and Acid sphingomyelinase deficiency (ASMD). ASMD used to be known as NP-A and NP-B but now they are referred to a singular condition. NP-C today In 2023, over a hundred years since the case of Irene, we now have access to clinical trial medications that can help to treat NP-C. There is also the hope that gene therapy, a treatment that can change the expression of important genes, could be the next major step in treating this disease. This therapy is complex, however, five different laboratories across the world have published papers that show that it could be a promising and effective treatment for NP-C. Gene therapy has already been used to treat Spinal Muscular Atrophy (SMA), a rare inherited condition that causes muscle weakness and can be fatal. The treatment, Spinraza, is now publicly funded in Australia. We can hope that with more time, gene therapies will progress to clinical trials for the treatment of NP-C as well. For those interested, I will write a future blog to help explain what this therapy may involve. Overall, NP-C research has come a long way for a condition that is so rare and severe. Now, there is hope with the INPDR patient registry and developing technologies that research will find better outcomes for those living with NP-C. The hope is that one day, children like 17-month-old Irene, the first NP-C patient, will be able to access a treatment that can maximise their ability to have a long and healthy life. Stay supportive and supported, Ellie

When talking with rare condition families, it is common to hear that they have gone through a ‘diagnostic odyssey’. This is essentially the years-long journey that involves a loved one seeing a range of health specialists and undergoing many tests to eventually discover their rare condition diagnosis. But what if you knew what your chances were of having a child with a rare condition before your baby was born, or even conceived? With carrier screening, you can know your chances of having a child with NP-C. Carrier screening is a type of genetic test that can identify DNA changes that may increase your chance of having a child with NP-C, or a range of other inherited conditions. This knowledge may empower you to make more informed decisions regarding your family’s future. Who are carriers? NP-C is a recessive condition. This means that both copies of the NPC gene need to be affected for symptoms to develop. Carriers on the other hand, only have one affected gene copy. They carry the affected gene in their body, with the healthy copy producing enough NPC protein to keep them functioning normally. All parents of children with NP-C are carriers of the condition. Without having an affected child or getting a genetic test there is simply no way of knowing what you carry in your DNA. As children receive 50% of their DNA from each parent, it is important to know what could be passed down. 1 in 20 people was found to carry disease-causing genes for three of the most common rare genetic conditions: cystic fibrosis, spinal muscular atrophy, and fragile X syndrome. Shockingly, 90% of carriers had no known family history. Therefore, screening all couples regardless of family history is important when planning to start or expand a family. If both individuals in a couple are carriers, there is a 1 in 4 chance of having a child with NP-C. Many studies have demonstrated the benefit of this testing for couples, and projects like Mackenzies Mission are trying to show how it could be utilised on a national scale. Guidelines recommend that testing is offered to all reproductive couples, in the hope that providing them with this knowledge will lead to more informed reproductive decision-making. These decisions are highly personal and consulting a healthcare professional such as a genetic counsellor is strongly recommended to ensure the test is right for you. If you're interested in learning more check out this fact sheet and this testing information page. Stay supportive and supported, Ellie Collins, F. S. (2010). The language of life : DNA and the revolution in personalized medicine / Francis S. Collins. Harper. Archibald et al. (2018). Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests. Genetics in Medicine: Official Journal of the American College of Medical Genetics and Genomics, 20(5), 513–523. https://doi.org/10.1038/gim.2017.134

The Australian NPC Disease Foundation hosted an inspiring event this year, the 2023 NPC Conference, which took place at the prestigious Florey Institute of Neuroscience and Mental Health. This conference was a significant occasion for patients, clinicians, and researchers, providing a platform to share the latest clinical and research updates on Niemann-Pick disease. The conference spanned two days, from June 1st to June 2nd, and was filled with informative sessions and heartfelt stories. It was attended by 50 people from various walks of life in the NPC community both in-person and virtually. The mornings were dedicated to keynote speakers who are at the forefront of NPC research, followed by panel discussions on upcoming clinical trials and research developments. These sessions offered insights into the progress being made in the fight against NPC and the potential treatments on the horizon. The afternoons were reserved for focused panels discussing the care and management of NPD. These discussions were particularly valuable as they included perspectives from allied organizations and individuals living with the disease, providing a holistic view of the challenges and solutions in managing NPD. The Australian NPC Disease Foundation has been instrumental in bringing attention to NPC and supporting those affected by it. Their efforts in organizing the 2023 NPC Conference have not only facilitated knowledge sharing but also fostered a sense of community among those impacted by this rare disease. As we look to the future, the outcomes of the 2023 NPC Conference will undoubtedly influence the direction of NPC research and patient care. The dedication of the Australian NPC Disease Foundation and the collective efforts of the NPC community give us hope for a future where Niemann-Pick disease is no longer a daunting diagnosis but a manageable condition. #NPConf2023 #familyfirst #conference Acknowledgments The ANPDF is grateful to their key partners and sponsors that enabled the attendance of our patients from all over Australia both in-person and virtually. Venue Partner - The Florey Institute of Neuroscience and Mental Health Major Sponsor - National Disability Conference Initiative Grant funded by the Australian Government Department of Social Services Contributors - Soroptimist International of Melbourne, Machine Screen Printers Thank you to the organising committee; Deanna Carpino, Andrew Carpino, Ya Hui Hung, Pip Johnston, Joy Lee, Mark Walterfang, and Mandy Whitechurch - for their tireless hours that were volunteered for the success of this event. Special mention to first-time ANPDF volunteer, Tailah Griffin, for her help on the day as both photographer and attendee coordinator and returning host, Felicity Munro. Thank you to all the new and returning speakers who kindly gave their time to delivering their experience and expertise to our Australian audience. Thank you to all involved.

"IntraBio Announces Positive Pivotal Trial Results of IB1001 for the Treatment of Niemann-Pick Disease Type C" Read the full article here: IB1001 showed a clinically meaningful improvement in symptoms, functioning, quality of life, and cognition in both pediatric and adult patients with NPC IB1001 was safe and well-tolerated with a favorable safety profile consistent with previous clinical and pre-clinical studies Based on these positive results, IntraBio plans to file for marketing authorization with IB1001 with the FDA and EMA To join our fight, as well as fund vital research for a cure, support the Australian NPC Disease Foundation in its goals of "Research. Cure. Persevere." Ways to support NP-C in Australia: Donate online Shop at our online NPC store Fundraise your way! Check our free resources and inspo online.

Raised $477.27 #MothersDay #raffle Winners: 1ST PRIZE WINNER Ticket Number 52 (From Armstrong Creek, VIC) 2ND PRIZE WINNER Ticket Number 76 (From St Kilda, VIC) 3RD PRIZE WINNER Ticket Number 86 (From St Kilda, VIC) Interested in organising your own raffle or fundraiser? Contact us today for free advice and resources.

When I say the word “genetics”, what comes to mind? You may already be familiar with the word “gene” or maybe “DNA” but what do these terms mean? Understanding these words may be more important than you might think. So, let us break it down. A question for you What did you inherit from your parents? Some would say that you inherited the shape of your nose, hair colour, or eye colour. Source: Alexas_Fotos via Pixabay It’s common to hear “she has her father’s nose” or “you have your mother’s blue eyes”. For me, I get comments on my bright blue eyes. My response is usually ‘thank you! It runs in the family. This is true. Some traits, such as the blue eye colour, can be passed down through families. But how does this happen? Well, the instructions for our body to function and develop are found in a biological instruction manual called DNA. It’s often presented as a twisted string shape like the image below. DNA is simply 4 letters representing chemical compounds – i.e. A T G C which when placed in specific sequences create the instructions for our body to function. We normally receive half of our DNA from our biological mother and half from our biological father. However, everyone has a slightly different sequence of letters, and that’s why we are all different. Genetics is the study of our genes, which are made up of segments of DNA. Genes code for proteins that are essential to keep our cells and body functioning normally. Proteins made by our body have many important roles. For example, they can directly impact traits such as eye colour or skin pigment. Look at the example below to see how a gene can be linked to a physical trait. In this case, the flower colour gene is linked with the purple colour of a flower. Source: Khan Academy, "Overview of Gene Expression" in "Intro to gene expression (central dogma)" So, when someone refers to your ‘genetics’ – they are talking about the genes you have. Specifically, what is the variation of a gene you carry? There are many variations of the same gene. These different variations are referred to as alleles (pronounced “ell-eels”). Everyone has two alleles. One allele you inherit from your biological mother, and one from your father. Sometimes can also be born with a new variation of a gene that is not in your family. Most variations of genes result in normal protein function, but a small change can lead to changed protein function. When protein function is affected, it can cause inherited conditions such as NP-C. To be affected by NP-C, both alleles need to have a changed protein function. If only one allele has changed function, but there is still a copy with normal protein function then the person is referred to as a carrier of NP-C. Bringing it together Whether it’s blue eyes or an inability to process cholesterol in your cells, genes play a big role in who we are and how we function. If you are interested to know more, stay tuned for future posts on this topic. In the meantime, Melbourne Genomics and Australian Genomics both have some great resources and information. Stay supportive and supported, Ellie P.S. Don't forget to read my first post to see who I am and why I started NP-C Corner.

I understand that a large portion of readers will be parents, carers, or family members of somebody with NP-C. Therefore, I don’t need to state just how emotionally, physically, and mentally draining it can be to keep up with the demands of this rare disease for everyone involved. It’s common for carers and parents to put the NP-C individual first. It doesn’t take much to understand why – a single day can be a juggling act of meds, various medical appointments, support worker shifts, and day-to-day essential tasks such as preparing vitamised meals. It can almost be compared to a full-time job. Unfortunately, it can sometimes lead to very little time for taking care of your own health. The situation for carers Research from South Australia has found that unpaid carers such as family members, were more likely to report struggling from psychological distress and described their health status as poor to fair (on a scale of poor to excellent). They were also at higher risk of chronic conditions such as high blood pressure and cholesterol. These conditions can have serious consequences if they go untreated. So, I wanted to write to you, the amazing carers of our NP-C community, and try to provide some awareness of how important your own health is. You are important too I understand that you want to be a good parent and caregiver. But please remember that the ability to provide support is limited by your own health. You can only support someone if you have the capacity to. The stress bucket model by Brabban and Turkington (2002) is a good way to visualise this idea. To begin, imagine a bucket of water. The water is the stressors of life (for example, your carer commitments or job) that flow into the bucket. Without a place to be let out, this water will fill and fill and eventually will spill out of the bucket. This is the point of burnout, compassion fatigue, and severe stress. In other words, you have no more capacity to support or manage your life as you want to. So, we need to find ways to let the water out. We need to make holes in the bucket. One hole could be spending time with friends, and another could be meditation or prayer. Finding time to exercise or be outside can also help keep your bucket from overflowing. This idea is also explained in a nice 1-minute video below. What does this mean for you? So, think about what is going into your bucket and what is helping you let the stress out. Source: ‘What to do when your ‘stress bucket’ is full – tips for dealing with worry and stress for young carers” by Carer Support Wiltshire The Mental Health UK website has a free worksheet to help you think and hopefully, take action to keep your stress level within your capacity. If you feel like you need a bit of help with this, please keep in mind that Australia has a mental health treatment program that you can utilise. This program helps cover the costs of psychological support and can be a really great way to help manage your stress bucket. It is never too late to change your situation. It doesn’t have to be major changes, but taking small steps day-to-day can make a big difference. Stay supportive and supported, Ellie Brabban, A. & Turkington, D. (2002) The Search for Meaning: detecting congruence between life events, underlying schema and psychotic symptoms. In A.P. Morrison (Ed) A Casebook of Cognitive Therapy for Psychosis (Chap 5, p59-75). New York: Brunner-Routledge