Latest news with #VonWillebrandDisease
Scoop
26-05-2025
- Health
- Scoop
New Zealand Farm Dog Genetic Study Shows Top Five Health Risks
Press Release – Pamu Farms The Massey University research team behind the Right Dog for the Job project has so far analysed the DNA of 249 farm dogs, most sourced from Pmu (Landcorp Farming Ltd) farms. The initial tranche of the first genetic study of working farm dogs in New Zealand has uncovered five significant inherited health conditions across the selected huntaway and heading dog populations. The Massey University research team behind the Right Dog for the Job project has so far analysed the DNA of 249 farm dogs, most sourced from Pāmu (Landcorp Farming Ltd) farms. The study looks for genetic variants linked to disease, paving the way for better breeding practices and improved working dog health. 'We have been encouraging our shepherds to get their dogs tested as part of the Right Dog Project,' says Pāmu CE Mark Leslie. 'It's not only good for their breeding decisions, but ultimately building research and development of genetic information about working dogs will contribute to improving the health of farm dogs across the motu.' The study has so far genome-sequenced 130 huntaways, 104 heading dogs, and 15 mixed breeds. Researchers focused on 400 known genetic mutations previously reported in other dog breeds, pinpointing 27 variants present in New Zealand's farm dogs — five of which could lead to serious health issues. The five most notable genetic conditions found include: Vitamin B12 Deficiency (CUBN variant) – Can cause poor growth and health if untreated (6 carriers). Neuronal Ceroid Lipofuscinosis (NCL) (CLN8 variant) – A severe brain disease leading to loss of movement, seizures, and blindness (21 carriers). Mucopolysaccharidosis IIIA (SGSH variant) – A rare neurological disorder affecting huntaways (5 carriers). Degenerative Myelopathy (DM) (SOD1 variant) – A spinal cord disease that can result in progressive mobility loss (46 carriers, 5 affected dogs). Von Willebrand Disease (VWF variant) – A bleeding disorder that makes dogs vulnerable to excessive blood loss (9 carriers, 1 affected dog). Since these conditions are recessive, dogs carrying only one affected gene do not develop the disease. However, if two carriers are bred together, up to 25% of their puppies could be affected. The findings demonstrate the importance of genetic testing working dogs before breeding them, to avoid producing puppies with life-threatening conditions.
Scoop
26-05-2025
- Health
- Scoop
New Zealand Farm Dog Genetic Study Shows Top Five Health Risks
The initial tranche of the first genetic study of working farm dogs in New Zealand has uncovered five significant inherited health conditions across the selected huntaway and heading dog populations. The Massey University research team behind the Right Dog for the Job project has so far analysed the DNA of 249 farm dogs, most sourced from Pāmu (Landcorp Farming Ltd) farms. The study looks for genetic variants linked to disease, paving the way for better breeding practices and improved working dog health. 'We have been encouraging our shepherds to get their dogs tested as part of the Right Dog Project,' says Pāmu CE Mark Leslie. 'It's not only good for their breeding decisions, but ultimately building research and development of genetic information about working dogs will contribute to improving the health of farm dogs across the motu.' The study has so far genome-sequenced 130 huntaways, 104 heading dogs, and 15 mixed breeds. Researchers focused on 400 known genetic mutations previously reported in other dog breeds, pinpointing 27 variants present in New Zealand's farm dogs — five of which could lead to serious health issues. The five most notable genetic conditions found include: Vitamin B12 Deficiency (CUBN variant) – Can cause poor growth and health if untreated (6 carriers). Neuronal Ceroid Lipofuscinosis (NCL) (CLN8 variant) – A severe brain disease leading to loss of movement, seizures, and blindness (21 carriers). Mucopolysaccharidosis IIIA (SGSH variant) – A rare neurological disorder affecting huntaways (5 carriers). Degenerative Myelopathy (DM) (SOD1 variant) – A spinal cord disease that can result in progressive mobility loss (46 carriers, 5 affected dogs). Von Willebrand Disease (VWF variant) – A bleeding disorder that makes dogs vulnerable to excessive blood loss (9 carriers, 1 affected dog). Since these conditions are recessive, dogs carrying only one affected gene do not develop the disease. However, if two carriers are bred together, up to 25% of their puppies could be affected. The findings demonstrate the importance of genetic testing working dogs before breeding them, to avoid producing puppies with life-threatening conditions.
Time of India
09-05-2025
- Health
- Time of India
Govt hosp performs C-section on woman with rare disease
Mangaluru: Government Lady Goschen Hospital here has successfully performed surgery on a pregnant woman suffering from life-threatening haemophilia, giving a new lease of life to both mother and woman, who inherited Von Willebrand Disease (VWD), a bleeding disorder, had received treatment at a private hospital since childhood. After getting married, she conceived but faced the risk of bleeding due to haemophilia during pregnancy, which could be disease is primarily caused by a deficiency of Factor VIII, which is crucial in stopping bleeding. This factor needs to be artificially administered regularly. Unfortunately, treatment for this rare condition, affecting one in a lakh, is not easily accessible, and the injections derived from plasma are expensive. Operation Sindoor PM Modi meets NSA, chiefs of armed forces amid spike in tensions with Pak India's air defence systems shoot down Pak drones in J&K, Punjab & Rajasthan Several airports in India to be closed till May 15 - check list The costs proposed by private hospitals were beyond her expectations. In such cases, maternal death is almost medical superintendent Dr Durgaprasad MR said despite understanding the seriousness of her condition, the woman, caught in a dilemma due to family reasons, was determined to become a mother, even at the cost of her life. "Her relatives consulted Dr Sharath Kumar at Wenlock Blood Bank about the supply of Factor VIII injections . Given the complexity of her pregnancy, Government Lady Goschen Hospital took on the challenge of ensuring the safety of both mother and child. The govt arranged for the weekly administration of the necessary injections throughout her pregnancy. She was admitted to the hospital 20 days before her expected delivery date, and a caesarean section was safely performed with all preparations in place. The govt provided 25,000 units of this rare and expensive injection during her care," Dr Durgaprasad and gynaecologists Dr Anupama Rao, Dr Siriganesh, Dr Namitha, anaesthetists Dr Sumesh Rao, Dr Ranjan, and the nursing staff at the hospital helped in the task. After about 10 days of postnatal care, the woman returned home.
Yahoo
15-04-2025
- Health
- Yahoo
Dr. Jonathan Roberts: Leading expert in rare bleeding disorders
PEORIA, Ill. (WMBD) — His passion lights a path forward for those with rare bleeding disorders. 'I'm involved in helping to craft policies that help to shape national guidelines and recommendations for management with people with other bleeding disorders,' said Dr. Jonathan C. Roberts, MD. Dr. Jonathan Roberts is the associate medical director and research director for the Bleeding and Clotting Disorders Institute (BCDI) in Peoria. 'I'm very fortunate that I'm uniquely suited, that I can share my personal experience and really connect with my patients on a personal level when they're right in front of me,' said Dr. Roberts. 'I also am able to impact the larger global community because I have a unique voice and perspective when it comes to policymaking and research endeavors in that regard. I myself have severe hemophilia A, so from being a very small child I had the personal drive that I wanted to take care of people who had a similar disorder to what I have. That led to a lifelong pursuit and then ultimately my career and what I do day-to-day.' He recently received the Rod Niederman Humanitarian Award for his services to the international community. 'This award is in memory of a fellow blood brothers we like to call each other who had severe hemophilia, who passed away from the HIV epidemic that happened to the bleeding disorder community back in the eighties and very early nineties,' said Dr. Roberts. 'That affected my family as well. I had two uncles with severe hemophilia a who ended up succumbing to HIV before the treatments got as good as they are now. In my early childhood [that] was a huge personal motivating factor, to see my uncles suffer to then, you know, help other people who have similarly been affected. So, this humanitarian award is really in memory of that generation.' He pours himself into helping people with Hemophilia, Von Willebrand Disease, and more. His reach goes far beyond the Greater Peoria area, reaching a global stage. 'Lecturing at patient events, across the state, across the country,' said Dr. Roberts. 'I've been invited some places internationally for research collaborations and serving as faculty. I'll speak at a local patient event or I'll speak at our national/international conferences with oral presentations and publications.' With more than 70 peer-reviewed research publications, Dr. Roberts hopes to continue crafting and creating breakthrough research to make a difference in everyone's lives. World Hemophilia Day is April 17. Donate to BCDI Learn More about services offered BCDI leaders hosted their 14th Annual Trivia Night The Great Outdooors last Friday where supporters helped surpass a fundraising goal of $150,000. Contributions help BCDI's foundation to support patients, aid in education efforts, uplift scholarship opportunities, and more. 'Our staff here at BCDI who put it on – we couldn't do it without them,' said Dr. Roberts. 'It gets better and better every year.' If you missed the trivia event, BCDI leaders are preparing for their inaugural Food Trunk Frenzy. Copyright 2025 Nexstar Media, Inc. All rights reserved. This material may not be published, broadcast, rewritten, or redistributed.
