Joan Nampiima’s Post

(6/9) We are excited to disclose our second genetic disease program: Fabry disease. In #Fabrydisease, which effects approximately 8,000 people in the U.S., harmful levels of Gb3 accumulate in blood cells and tissues throughout the body, due to insufficient αGal enzyme activity, which can lead to a range of symptoms, including potentially life-threatening ones such as kidney failure, heart failure and stroke.     We have created the first non-inhibitory chaperone, which is designed to stabilize the αGal protein without inhibiting its activity, thus enabling greater Gb3 clearance across organs. We expect this program to enter the clinic in the second half of 2025.

Alpha-1 Antitrypsin deficiency is the most common genetic risk factor for COPD as well as liver disease in children. Early diagnosis is essential and lung damage is not reversible. SPIFE Touch A1AT allows identification of clinically relevant phenotypes on up to 40 samples per gel. Separations are clear for greater ease in interpretation. https://lnkd.in/gFaXq6kM

November is #Alpha1Awareness Month! Join us in raising awareness for Alpha-1 Antitrypsin Deficiency (AATD), a genetic condition that can lead to serious lung and liver diseases. We are committed to help accelerate new therapies to these patients. ICYMI, here's our webinar with Dr. Barjaktarevic on the topic. https://hubs.la/Q02Wy3vZ0 #AATD

Kidney disease  Part 2  Because of the increasing noncommunicable diseases (NCDs) and other risk factors, the burden of Chronic Kidney Disease (CKD) is increasing worldwide. Chronic kidney disease affects approximately 10% of the world's adult population (1). https://lnkd.in/drYGY6Xy). Certain normal variations of the HLA-DQA1 gene have been associated with increased risk of autoimmune disorders, which occur when the immune system malfunctions and attacks the body's own tissues and organs. It is unclear how different versions of the HLA-DQA1 gene influence the risk of developing autoimmune disorders. https://lnkd.in/dqE_sa9H What does the HLA-DQA1 gene do?Normal Function. The HLA-DQA1 gene provides instructions for making a protein that plays a critical role in the immune system.https://https://lnkd.in/dYfdmXgu. When I said genetic disorders is important, food lifestyles, exercise….. can you see the results from this genetic disorder every where? 

APDS is a progressive primary immunodeficiency (PI). Clinical manifestations usually start in infancy with severe, recurrent sinopulmonary infections. The onset of symptoms is heterogeneous and progressive and can vary even within the same family. Early diagnosis is crucial to help guide disease management. An APDS diagnosis can be confirmed with a genetic test. Learn more about APDS clinical features at https://lnkd.in/g6PVUpTS. #apds #primaryimmunodeficiency #allaboutapds

July is National Hemochromatosis Screening & Awareness Month! Did you know that hemochromatosis is one of the most common genetic disorders, affecting 1 in 200 people? This month, we aim to shed light on this often-overlooked condition and its impact on individuals and families. What is Hemochromatosis? Hemochromatosis is a condition where the body absorbs too much iron from the diet. The excess iron is then stored in various organs, primarily the liver, heart, and pancreas, which can lead to serious health problems if left untreated. Symptoms to Watch For: Fatigue Joint pain Abdominal pain Diabetes Heart abnormalities Early diagnosis and treatment are crucial to prevent complications. Treatment typically involves regular phlebotomy (blood removal), which helps reduce iron levels in the body. At R&B Labs, we are committed to raising awareness about hemochromatosis and providing convenient, mobile phlebotomy services to support those in need. https://lnkd.in/e73ZvUYK Join us this month in spreading awareness and supporting those affected by hemochromatosis. Together, we can make a difference! #HemochromatosisAwareness #HealthAwareness #Phlebotomy #IronOverload #Mobilephlebotomyservices

Alzheimer's disease (AD) and Testosterone? This interesting article published this year shows a benefit for testosterone in women BUT not men with apolipoprotein E ε4 allele (APOE-ε4). APOE-ε4 is the strongest genetic risk factor for AD. https://lnkd.in/gXd6ASXv

Today we acknowledge #WorldSickleCellDay. The millions of people living with this group of genetic blood disorders face significant #unmetneeds and limitations. • People with #sicklecelldisease (SCD) face significant unmet needs and limitations • It is a group of disorders marked by intense #paincrises, anaemia, recurring infections and hospitalisations • While #progress has been made and people with SCD in some parts of the world are living longer… They deserve more. That’s why we are committed to a future where it is possible to #liveunlimited with sickle cell disease. See more about our work... https://lnkd.in/dNx4DvfM #WSCD2024 #novonordisk #Spain #WorldSickleCellDay

Autosomal dominant PKD (ADPKD) is the most common type of polycystic kidney disease (PKD) and one of the most common genetic kidney diseases. About 9 out of every 10 people with PKD have ADPKD. ADPKD causes cysts to grow in your kidneys and can also affect other organs, especially the liver. Download the guide from American Kidney Fund to further understand the disease and learn your next steps toward treatment #kidneydiease #kidneyfund #kidneytrials #polycystickidneydisease

Alpha 1 antitrypsin deficiency, often called Alpha 1, is a genetic condition where the body does not produce enough of the alpha 1 antitrypsin (AAT) protein. This deficiency can lead to serious lung and liver diseases. It’s estimated that 116 million people worldwide are carriers of abnormal Alpha 1 genes. November is Alpha-1 Awareness Month in the U.S. Learn more about the disease, its symptoms, diagnosis and available treatments here: https://bit.ly/3NW2NJ4