Farewell #ASH24. It has been a real pleasure, a great source of information, and an amazing opportunity for collaborations.
I’ve enjoyed sharing my experiences, and I only regret I could not share even more of the amazing hematology with everyone.
For those with lifelong bleeding, bruising, and/or low platelets but no diagnosis, the NHGRI RUNX1 Program can offer focused testing for those without the resources to get more comprehensive testing elsewhere at no cost. Enrollment in our study is also free of cost.
bsky.app/profile/drda...
Enrollment in our study is absolutely free. For those who can join us in Bethesda at the NIH we are able to provide transportation and lodging. And we cover the costs of all testing (which is only to your level of comfort and desired involvement) #RUNX1
We also encourage all of our study participants and their families to connect with RUNX1 Research Program where they will find an amazing community of caring providers, researchers, and most importantly other people also on their RUNX1 Journeys. #RUNX1 #HemeSky #Platelets
www.runx1-fpd.org
If you or someone you know or provide care for has RUNX1 Familial Platelet Disorder, please reach out to the NHGRI RUNX1 Natural History Study. #HemeSky #RUNX1 #FPD
www.genome.gov/Current-NHGR...
This not only deprives these patients of the best care and prevention, but blinds us to the full extent of RUNX1 biology.
Sadly, Dr. Bisi Lawal shows that minorities continue to struggle to receive attention at both the local and national level, and when they do, they are more likely to be the ones with more severe and/or advanced disease, or already progressed to malignancy. #ASH24 #HemeEquity
Diversity in research is essential for research equity and equipoise. This is important for treatment AND natural history studies. At NHGRI #RUNX1 Natural History Study we strive to learn about ALL people with FPDMM.
#ASH24 #HemeTwitter @ash-hematology.bsky.social
At an #ASH24 that saw the wonderful blinatumomab results, it is frightening that pediatric AIHA can have mortality rates approaching 10%. We need better diagnostics, understanding and treatments.
Dr. Rachael Grace of @bostonchildrens.bsky.social presents a comprehensive analysis of pedi AIHA. Half of patients will have one episode. For the it is a recurrent condition. With 70% untested, there is a need for more universal genetics to help stratify risks/treatment. #ASH24 #HemeSky
How rare is “rare”?
Dr. M Mar Mañú Pereira (ERN EuroBloodNet / Vall d’Hebron) presents uRADAR data demonstrating that with transnational efforts we can better identify, study, and even treat vanishingly uncommon disorders, which may actually be more prevalent than we think #ASH24 #HemeSky
Importantly, side effects and reactions were as good as, if not better than, iron sucrose
Iron deficiency is a critical issue during pregnancy. Oral repletion is inefficient with side effects. Traditional IV is intensive. Mary Morgan (Sunnybrook/ UofToronto) provides compelling data for ferric derisomaltose total dose infusion to treat pregnancy related #IDA #ASH24 #HemeSky
We think (rightly) of myeloid malignancy in IBMFS/CPS, but as Dr. Yael Kusne of @mayocliniccancer.bsky.social shows, DDX41 can be associated with lymphoid malignancies, too. Complicated by subsequent MN later in life. Great work characterizing the spectrum of DDX41 cancers. #ASH24 #HemeSky
Dr. Neha Nagpal of @bostonchildrens.bsky.social presents a synthetic eTERC that interestingly leads to longer telomeres, reduced cellular senescence, and is effective across multiple #telomere mutations. #ASH24 @teamtelomere.bsky.social
Although there is confounding, such as lead time, HCT for HRF has a better prognosis than after the development of malignancy. Importantly, younger patients do better. Work like this will help us to come to better-honed consensus guidelines for treating SDS and others. #ASH24
In #SDS, the accumulation of TP53 clones over 3% VAF and other features (HRF) defines a high risk subgroup that may be more amenable to early intervention #ASH24
When do you pull the trigger on transplant in IBMFS/CPS?
As Felicia Andresen of @bostonchildrens.bsky.social with the SDS Registry discusses, the ideal would be after the development of high risk features, when risk crosses a threshold, but before transformation #ASH24 #HemeSky
This slide by Felicia Andersen of @bostonchildrens.bsky.social is so important, specifically the little red box.
ICC/WHO criteria are so important, but there are so many quirks to IBMFS/CPS monitoring. Work by registries and natural history studies is critical for defining these. #ASH24
Why do I study rare diseases?
I love the patients and am fascinated by their disease.
But as noted by Dr. Matteo Della Porta, rare monogenic disorders can teach us about the biology and treatment of more common, multifactorial diseases. #ASH24 @ash-hematology.bsky.social #EHA
Follow up of NHlBI Danazol for #TBD by Dr Nick Lee:
Danazol remains safe and effective. Most require life-long treatment for count support, but organ dysfunction and infection (esp pulmonary) continues. Absent other risks (e.g., immune AA), clonal expansion is not seen. #ASH24 #HemeSky
Love is all around…and so are variants.
Dr. Lisa McReynolds: @ncicancer.bsky.social IBMFS/CPS genes may be as prevalent as about 0.2%, with high penetrance. Some of these are associated with higher and/or earlier rates of malignant transformation. We need management guidelines #ASH24 #HemeSky
#ASH24 features cutting-edge developments for treating blood disorders, but #HamWassermanLecture by Dipty Jain critically remind us true change comes from dedication and commitment to our patients, and even simple interventions can be life-changing for thousands, if not millions.
DBA may be one of the most polygenic disorders (don’t quote me), but a defining feature is which ribosomal subunit is affected. Plethora of data defining the importance of the specific subunit to HSPCs in DBA by Yuefeng Tang of @northwellhealth.bsky.social #ASH24 #HemeSky
Gene therapy will come to DBA, but given its complex genetics, that time is still far off. However, work using alternative non-chemotherapeutic conditioning such as that by Leah Swartzrock of @stanfordmedicine.bsky.social is making the current cure, HCT, safer for patients. #ASH24 #HemeSky
Almost daily there is a new heritable BMF gene. ERCC6L2 is one of these new kids on the block. Sometimes it takes a bit to stress a stem cell, but when you do it right as Roman Schimmer has, TP53 (yes, that gene again) pops out as a (maladaptive) compensatory pathway.
#ASH24 #HemeSky
It’s hard to believe that #ASH24 hasn’t technically started yet! Looking forward to more great work today.
Correlating specific variants with risk is the holy grail of IMBFS/CPS research, but findings can be so fleeting. We will succeed only with determination, careful subsetting, and examining large cohorts as occurs through collaboration as shown by Lili Kotmayer of St. Jude. #ASH2024 #HemeSky
What’s a shameless plug without a link?!?
www.genome.gov/Current-NHGR...
